Malattia muscolare legata all'X la cui causa è l'incapacità di sintetizzare la distrofina, proteina coinvolta nel mantenimento dell'integrità del sarcolemma. Le fibre muscolari sono sottoposte ad un processo di degenerazione e rigenerazione. Le manifestazioni cliniche comprendono debolezza dei muscoli prossimali nei primi anni di vita, pseudoipertrofia e cardiomiopatia. La malattia esordisce di solito in adolescenza ed ha un decorso lentamente progressivo. (Adams et al., Principles of Neurology, 6th ed, p1415) (Medline Thesaurus)

Questa è la più frequente e la meglio conosciuta delle distrofie muscolari dell'infanzia. Insorge precocemente nell'infanzia ed ha un decorso relativamente rapido e progressivo. L'incidenza della malattia è compresa tra 13 e 33/100.000 all'anno o di circa 1/3300 nati vivi di sesso maschile, in ogni parte del mondo. C'è una forte familiarità; visto che la malattia è trasmessa come carattere X-linked recessivo, si manifesta prevalentemente nei maschi. Circa il 30% dei pazienti hanno una storia familiare negativa e si sa che rappresentano mutazioni spontanee.
Occasionalmente una grave distrofia muscolare prossimale si può sviluppare in giovani ragazze. Ciò può avere diverse spiegazioni: (1) se la femmina ha un solo cromosoma X, come avviene nella sindrome di Turner (X0), e se questo cromosoma porta il gene in questione, svilupperà la malattia esattamente come un maschio. (2) Potrebbe verificarsi anche, secondo il cosiddetto principio di Lyon, una inattivazione del cromosoma X paterno normale in una grande proporzione di cellule embrionali. Tuttavia, la maggior parte dei casi di distrofia infantile femminile si è dimostrata essere una distrofia dei cingoli degli arti di tipo recessivo.
La distrofia muscolare di Duchenne si osserva nel terzo anno di vita e comunque sempre prima del sesto anno, ma quasi la metà dei pazienti mostra evidenza di malattia prima di cominciare a camminare. Molti di questi pazienti presentano anche ritardo psicomotorio, e la debolezza muscolare all'inizio può passare inosservata. Il primo indizio può essere una creatina chinasi (CK) elevata. In un altro gruppo di bambini, l'incapacità a camminare o a correre, ad un'età in cui dovrebbero saperlo, fare li conduce all'attenzione del medico; oppure, pur avendo raggiunto queste tappe di sviluppo, questi bambini diventano meno attivi di prima e più predisposti alle cadute.
La crescente difficoltà a camminare, a correre e a salire le scale, la tendenza a cadere all'indietro e l'andatura anserina diventano sempre più evidenti col passare del tempo. Inizialmente sono coinvolti i muscoli ileopsoas, quadricipiti e glutei; poi si indeboliscono i muscoli pretibiali (piede cadente e marcia in punta di piedi). I muscoli del cingolo pettorale e gli arti superiori vengono colpiti dopo quelli pelvicrurali; poi, più o meno in questo ordine, vengono colpiti i muscoli serrati, la parte inferiore dei pettorali, il grande dorsale, i bicipiti e i muscoli brachioradiali. L'ingrossamento dei polpacci e di alcuni altri muscoli è progressivo nelle fasi precoci della malattia, ma la maggior parte dei muscoli, anche quelli che originariamente si erano ingrossati, alla fine diminuisce di volume; solo i gastrocnemi, e in misura minore il vasto laterale e i deltoidi, restano costantemente ingrossati, è questa peculiarità può attrarre l'attenzione prima che la debolezza diventi evidente. I muscoli ingrossati hanno una consistenza compatta, elastica ('gommosa') e di regola sono leggermente meno forti e più ipotonici di quelli non affetti (pseudoipertrofia). Raramente, tutti i muscoli all'inizio si presentano voluminosi e tonici, perfino quelli del volto, come accadde in uno dei casi descritti da Duchenne (un 'Ercole Farnese'); in questo caso, si tratta di una vera ipertrofia.
I muscoli del cingolo pelvico, della colonna lombosacrale e delle spalle diventano deboli ed emaciati, rendendo ragione di certe peculiari caratteristiche cliniche. La debolezza dei muscoli addominali e paravertebrali spiega la postura lordosica e l'addome protrudente, in stazione eretta, e il dorso arrotondato in posizione seduta. La debolezza bilaterale degli estensori delle ginocchia e delle anche interferisce con l'equilibrio e con attività come salire le scale o alzarsi da una sedia o dalla posizione chinata. In stazione eretta e camminando, il paziente appoggia i piedi larghi per aumentare la superficie della sua base d'appoggio. Per alzarsi dalla posizione seduta, il paziente dapprima flette il tronco sulle anche, appoggia le mani sulle ginocchia e poi solleva il tronco spingendo con le mani sulle cosce. Per alzarsi da terra, il bambino dapprima si mette a quattro zampe estendendo al massimo le braccia e le gambe, poi si appoggia con le mani alternativamente allea coscia corrispondente (un segno questo tradizionalmente chiamato di Gowers). Alzandosi dalla posizione supina, il paziente gira la testa e il tronco e si mette seduto spingendosi da una parte. S. A. K. Wilson usò una frase alliterativa per descrivere le caratteristiche stranezze della stazione eretta e della marcia, e disse che il paziente 'sta a cavalcioni quando è in piedi e dondola quando cammina'. Il dondolamento è dovuto a debolezza bilaterale dei muscoli glutei medi. Non raramente il paziente lamenta dolore ai polpacci. La perdita di forza dei muscoli che fissano la spalla al torace (il dentato anteriore, il trapezio inferiore e il romboide) provoca una caduta della scapola, e, stando davanti al paziente, qualche volta si possono vedere gli angoli delle scapole al di sopra della spalla.
Con l'avanzare della malattia, la debolezza e l'atrofia si estendono ai muscoli delle gambe e degli avambracci. I muscoli che vengono selettivamente colpiti sono i flessori del collo, gli estensori del polso, i brachioradiali, la parte costale del grande pettorale, il grande dorsale, i bicipiti, i tricipiti, il tibiale anteriore e i peroneali. I muscoli oculari, facciali, e delle mani di solito sono risparmiati, benché nelle fasi avanzate della malattia si possa avere anche deficit di forza dei muscoli della faccia e dello sternomastoideo e del diaframma.
Gli arti di solito sono sciolti, ma con l'avanzare della disabilità, si formano contratture fibrose causate dal mantenere gli arti sempre nella stessa posizione e dallo sbilanciamento tra agonisti e antagonisti. Nella prima fase, in cui il cammino è conservato, i piedi assumono una postura equinovara, dovuta alla brevità dei muscoli posteriori del polpaccio, che agiscono senza la normale opposizione dei muscoli pretibiali e peroneali. Più tardi, i muscoli posteriori della coscia si accorciano definitivamente a causa della mancanza di contrazione dei muscoli quadricipiti indeboliti. In modo simile, si sviluppano contratture ai flessori dell'anca, per via della relativamente maggiore debolezza dei muscoli estensori dell'anca ed addominali. Ciò causa sbilanciamento pelvico e lordosi compensatoria per mantenere l'equilibrio statico. Le conseguenze di queste contratture spiegano la postura abituale del paziente con distrofia di Duchenne: lordosi lombare, flessione e adduzione dell'anca, flessione del ginocchio e flessione plantare. Quando le contratture diventano gravi, contribuiscono in maniera importante alla perdita della deambulazione che si ha alla fine. Quando il cammino ormai non è più possibile, di solito, si manifestano scoliosi, dovuta alla disuguale debolezza dei muscoli paravertebrali, e contratture in flessione degli avambracci.
I riflessi tendinei sono diminuiti. Le ossa sono sottili e demineralizzate, e i centri di ossificazione presentano un ritardo di ossificazione.
La muscolatura liscia è risparmiata, ma il cuore di solito è colpito. Si possono manifestare aritmie di molti tipi. L'elettrocardiogramma mostra onde R prominenti nelle derivazioni precordiali destre, e onde Q profonde nelle precordiali sinistre e nelle derivate dagli arti. In molti casi si osserva un modesto grado di ritardo mentale, non progressivo.
Roses e colleghi hanno studiato le femmine portatrici della malattia (per es. le madri dei bambini affetti) e hanno descritto un modesto deficit di forza e ingrossamento dei polpacci così come valori elevati di CK e anomalie all'elettromiogramma e alla biopsia muscolare (tutte di grado modesto) in più dell'80% dei casi. Un piccolo numero di portatrici manifesta un modesto grado di miopatia che può mimare la distrofia dei cingoli degli arti. Le fibre muscolari di questi pazienti (denominanti portatori sintomatici) mostrano un pattern unico di immunocolorazione a mosaico: alcune fibre contengono distrofina, in altre è assente. Questa informazione è particolarmente utile nella consulenza genetica.


ALTRE DISTROFINOPATIE
Vi sono numerosi rari tipi di anomali e della distrofina.
Una, descritta da Gospe e collaboratori, è una SINDROME MIALGIE-CRAMPI-MIOGLOBINURIA, X-linked, con una delezione del primo terzo del gene della distrofina al locus Xp21. Le alterazioni muscolari sono modeste e relativamente non progressive.
Un'altra distrofinopatia è una forma di CARDIOMIOPATIA X-LINKED, caratterizzata da insufficienza cardiaca progressiva in giovani, senza evidenza clinica di debolezza dei muscoli scheletrici; la biopsia del muscolo scheletrico rivela una ridotta immunoreattività alla distrofina.
In un altro tipo ancora, un DEFICIT DI GLICEROLO-CHINASI è associato con un grado variabile di ipoplasia surrenalica, ritardo mentale e miopatia.
(Adams et al. Principles of Neurology. 2001)


ANATOMIA PATOLOGICA
Negli stadi precoci della distrofia di Duchenne, le caratteristiche più tipiche sono un'importante degenerazione e fagocitosi segmentale di singole fibre o di gruppi di fibre e l'evidenza di attività rigenerativa (basofilia o iperplasia del sarcoplasma e nucleolazione dei nuclei del sarcolemma, e presenza di miotubi e miociti). La necrosi promuove un processo rigenerativo o riparativo, che spiega la biforcazione delle fibre e il raggruppamento di piccole fibre con nuclei sporgenti.
Il sarcoplasma e il sarcolemma necrotici vengono rimossi da parte di fagociti mononucleari (macrofagi). Ci possono essere nella regione anche scarsi linfociti T; i vasi sanguigni sono normali. Vi è una ialinizzazione del sarcoplasma di molte fibre degenerate e non. Alla fine si hanno alterazioni istologiche che sono comuni a tutti i tipi di distrofie muscolari in stato avanzato: perdita di fibre muscolari, fibre residue di dimensioni più grandi o più piccole del normale.
Si pensava che l'ipertrofia del muscolo fosse il risultato di un ingrossamento indotto dall'attività delle sole fibre muscolari che stanno vicine alle fibre colpite. Ma si possono avere casi di ipertrofia vera dei muscoli interi che precede il primo segno di debolezza, che sono difficile da spiegare. Queste grosse fibre possono essere già presenti quando sono ancora poche le fibre in degenerazione. La pseudoipertrofia è dovuta a sostituzione lipocitica delle fibre muscolari degenerate, ma nelle fasi precoci la presenza di molte fibre ingrossate contribuisce in maniera rilevante all'ingrossamento del muscolo. Quindi una vera ipertrofia lascia il posto ad una pseudoipertrofia. L'aumento dei lipociti, la fibrosi e l'ispessimento della parete vasale sono modificazioni secondarie. La sottigliezza delle fibre residue (probabilmente atrofia) è una caratteristica istologica importante. È ancora incerto se ciò rappresenti una progressiva insufficienza del metabolismo cellulare e una riduzione in volume di tutti i costituenti del sarcoplasma, o uno stadio di rigenerazione delle fibre muscolari danneggiate. Alla fine le fibre degenerano e scompaiono, presumibilmente a motivo dell'esaurimento della capacità rigenerativa dopo insulti ripetuti o per necrosi via via più estesa.
Negli stadi avanzati del processo distrofico, rimangono solo poche fibre muscolari sparse, solitarie in un mare di cellule adipose. È interessante osservare che lo stadio avanzato della polimiosite cronica assomiglia alla distrofia muscolare in quanto la popolazione di fibre è depleta, le fibre residue sono di dimensioni variabili e le cellule adipose e i tessuti fibrosi dell'endomisio sono aumentati: restano solo le fibre ipertrofizate della distrofia muscolare. Questa somiglianza ci informa che molte delle tipiche modificazioni della distrofia muscolare non sono specifiche, esprimendo solo la cronicità del processo miopatico.
Infine, va ribadito che in tutte le forme di distrofia muscolare i neuroni spinali e i loro assoni alle radici e nei nervi periferici sono essenzialmente normali.
(Adams et al. Principles of Neurology. 2001)

La morte di solito avviene a seguito di infezioni polmonari ed insufficienza respiratoria, e talvolta scompenso cardiaco. La morte di solito avviene nella tarda adolescenza, e non più del 20-25% dei pazienti sopravvive fino ai 25 anni. Gli ultimi anni di vita si trascorrono in sedia a rotelle, e alla fine il paziente è allettato.
(Adams et al. Principles of Neurology. 2001)

Il progresso più importante nella nostra conoscenza delle distrofie muscolari di Duchenne e di Becker è stata la scoperta, da parte di Kunkel, di un gene anomalo nel cromosoma X, che è condiviso da queste malattie, e del suo prodotto genico. Distrofina è il nome che è stato assegnato alla proteina codificata dal gene affetto. Il dosaggio biochimico di questa proteina e la sua dimostrazione istochimica vicino al sarcolemma ha reso possibile una accurata diagnosi dei fenotipi Duchenne e Becker ed ha chiarito la relazione tra queste due malattie. La distrofina è assente nei pazienti con fenotipo Duchenne, mentre è presente, ma strutturalmente anomala nel fenotipo Becker. Tuttavia, il fenotipo che cade tra la forma classica di Duchenne e la Becker (i tipi intermedio o 'escluso') è caratterizzato da una quantità di distrofina più bassa del normale. Come già detto, le distrofie muscolari di Duchenne e di Becker sono chiamate distrofinopatie.
Una forma leggermente diversa di distrofina, che prende origine da una parte diversa del gene, è stata trovata nei neuroni cerebrali e truncali, nelle cellule del Punkiinje e nelle cellule di Schwann a livello dei nodi di Ranvier. Un deficit di questa distrofina può, in alcuni casi, spiegare il modesto ritardo mentale.
Nel muscolo cardiaco e scheletrico normale, la distrofina si localizza nella faccia citoplasmatica del sarcolemma, dove interagisce con la F-actina del citoscheletro (il filamento che rinforza la struttura della cellula muscolare). La distrofina è anche legata ad un complesso di proteine del sarcolemma, note come proteine (DAPs) o glicoproteine (DAGs) associate alla distrofina. In questo complesso rivestono particolare importanza biologica le proteine adalina (difettosa in una particolare distrofia dei cingoli degli arti) e una glicoproteina da 156-kDa chiamata alfa-distroglicano. Il complesso distrofina-glicoproteina funzione come una struttura di legame trans-sarcolemmatica tra il citoscheletro del sub-sarcolemma e la matrice extracellulare.
La perdita della distrofina porta alla perdita della DAPs e alla distruzione del complesso proteina-distroglicano. Questa distruzione rende il sarcolemma suscettibile a rotture o a lacerazioni durante la contrazione muscolare, un'ipotesi coerente con le anomalie ultrastrutturali che caratterizzano la distrofia di Duchenne.
I difetti di membrana e le alterazioni associate nella sottostante regione della fibra rappresenta una precoce e basilare modificazione patologica nella distrofia di Duchenne e rende conto della fuoriuscita nel siero della CK e di altri enzimi muscolari.
L'identificazione della distrofina ha reso possibili molti test altamente sofisticati per la diagnosi delle distrofie di Duchenne e di Becker, così come dello stato di portatore.
L'analisi del gene della distrofina, da DNA ottenuto da globuli bianchi o da 50 mg di muscolo scheletrico, può dimostrare la mutazione genica nei pazienti Duchenne e Becker, e discriminare tra le due malattie con elevata accuratezza. L'analisi della distrofina tramite metodi di immunocolorazione e immunoblotting è il sistema decisivo per distinguere tra la Duchenne, la Becker, lo stato di portatore ed altre malattie muscolari. Byers e colleghi hanno messo a punto un dosaggio ELISA per misurare i livelli di distrofina in campioni di biopsia muscolare. Si tratta di un mezzo rapido e relativamente poco costoso per stabilire la diagnosi di distrofia muscolare di Duchenne-Becker e per distinguerle da altre malattie non correlate.
(Adams et al. Principles of Neurology. 2001)

Vedi diagnosi delle distrofie muscolari

Nella maggior parte delle famiglie, la diagnosi prenatale è di facile acquisizione tramite la ricerca molecolare della delezione del DNA, usando i villi corionici o gli amniociti, o tramite l'analisi del linkage. Tuttavia, in alcuni casi, i metodi molecolari non riescono a fornire una diagnosi definitiva, ed è in questi casi che la biopsia muscolare fetale in utero può rappresentare un'opzione diagnostica.
(Nevo et al. Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy. Prenat Diagn 1999 Oct;19(10):921-926).

Vedi terapia delle distrofie muscolari

Abdulrazzak-H; Noro-N; Simons-JP; Goldspink-G; Barnard-EA; Gorecki-DC
Structural diversity despite strong evolutionary conservation in the 5 '-untranslated region of the P-type dystrophin transcript
MOLECULAR-AND-CELLULAR-NEUROSCIENCE. MAR 2001; 17 (3) : 500-513

Adams,-V; Gielen,-S; Hambrecht,-R; Schuler,-G
Apoptosis in skeletal muscle.
Front-Biosci. 2001 Jan 1; 6D1-D11

Ahmad,-A; Brinson,-M; Hodges,-B-L; Chamberlain,-J-S; Amalfitano,-A
Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for duchenne muscular dystrophy.
Hum-Mol-Genet. 2000 Oct 12; 9(17): 2507-15

Ahuja,-R; Kalra,-V; Saxena,-A; Dua,-T
Prevalence and patterns of cardiac involvement in duchenne muscular dystrophy.
Indian-Pediatr. 2000 Nov; 37(11): 1246-51

Al-Ani-FS; Hamdan-FB; Shaikhly-KI
In situ measurements of muscle fiber conduction velocity in Duchenne muscular dystrophy
SAUDI-MEDICAL-JOURNAL. MAR 2001; 22 (3) : 259-261

Alderton,-J-M; Steinhardt,-R-A
How calcium influx through calcium leak channels is responsible for the elevated levels of calcium-dependent proteolysis in dystrophic myotubes.
Trends-Cardiovasc-Med. 2000 Aug; 10(6): 268-72

Aleman-V; Osorio-B; Chavez-O; Rendon-A; Mornet-D; Martinez-D
Subcellular localization of Dp71 dystrophin isoforms in cultured hippocampal neurons and forebrain astrocytes
HISTOCHEMISTRY-AND-CELL-BIOLOGY. MAR 2001; 115 (3) : 243-254

Anderson,-J-E; Weber,-M; Vargas,-C
Deflazacort increases laminin expression and myogenic repair, and induces early persistent functional gain in mdx mouse muscular dystrophy.
Cell-Transplant. 2000 Jul-Aug; 9(4): 551-64

Angelini-C; Bonifati-DM
New therapies in muscular dystrophies
NEUROLOGICAL-SCIENCES. 2000; 21 (5) Suppl. S : S919-S924

Ansved-T
Muscle training in muscular dystrophies
ACTA-PHYSIOLOGICA-SCANDINAVICA. MAR 2001; 171 (3) : 359-366

Bach,-J; Ishikawa,-Y; Tatara,-K
Pulmonary manifestations of neuromuscular disease.
Pediatr-Pulmonol. 2001 Jan; 31(1): 89-90

Bakker,-J-P; de-Groot,-I-J; Beckerman,-H; de-Jong,-B-A; Lankhorst,-G-J
The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature.
Clin-Rehabil. 2000 Aug; 14(4): 343-59

Baranov,-V-S; Baranov,-A-N
Gennaia terapiia monogennykh nasledstvennykh zabolevanii. Miodistrofiia Diushenna.
Vopr-Med-Khim. 2000 May-Jun; 46(3): 279-92

Barona-Zamora,-P
Musculo y corazon.
Med-Clin-(Barc). 2001 Jan 13; 116(1): 18-9

Baum,-O; Feussner,-M; Richter,-H; Gossrau,-R
Heme oxygenase-2 is present in the sarcolemma region of skeletal muscle fibers and is non-continuously co-localized with nitric oxide synthase-1.
Acta-Histochem. 2000 Aug; 102(3): 281-98

Beenakker-EAC; van-der-Hoeven-JH; Fock-JM; Maurits-NM
Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry
NEUROMUSCULAR-DISORDERS. JUL 2001; 11 (5) : 441-446

Benson-MA; Newey-SE; Martin-Rendon-E; Hawkes-R; Blake-DJ
Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain
JOURNAL-OF-BIOLOGICAL-CHEMISTRY. JUN 29 2001; 276 (26) : 24232-24241

Biggar,-W-D; Gingras,-M; Fehlings,-D-L; Harris,-V-A; Steele,-C-A
Deflazacort treatment of Duchenne muscular dystrophy.
J-Pediatr. 2001 Jan; 138(1): 45-50

Bolanos-Jimenez-F; Bordais-A; Behra-M; Strahle-U; Sahel-J; Rendon-A
Dystrophin and Dp71, two products of the DMD gene, show a different pattern of expression during embryonic development in zebrafish
MECHANISMS-OF-DEVELOPMENT. APR 2001; 102 (1-2) : 239-241

Boutou-E; Matsas-R; Mamalaki-A
Isolation of a mouse brain cDNA expressed in developing neuroblasts and mature neurons
MOLECULAR-BRAIN-RESEARCH. JAN 31 2001; 86 (1-2) : 153-167

Braun-U; Paju-K; Eimre-M; Seppet-E; Orlova-E; Kadaja-L; Trumbeckaite-S; Gellerich-FN; Zierz-S; Jockusch-H; Seppet-EK
Lack of dystrophin is associated with altered integration of the mitochondria and ATPases in slow-twitch muscle cells of MDX mice
BIOCHIMICA-ET-BIOPHYSICA-ACTA-BIOENERGETICS. JUN 1 2001; 1505 (2-3) : 258-270

Burkin,-D-J; Wallace,-G-Q; Nicol,-K-J; Kaufman,-D-J; Kaufman,-S-J
Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice.
J-Cell-Biol. 2001 Mar 19; 152(6): 1207-18

Buzzini-SRR; Macmillan-C
gamma-sarcoglycanopathy in two Palestinian-American siblings
CLINICAL-PEDIATRICS. FEB 2001; 40 (2) : 115-117

Camirand-G; Caron-NJ; Asselin-I; Tremblay-JP
Combined immunosuppression of mycophenolate mofetil and FK506 for myoblast transplantation in mdx mice
TRANSPLANTATION-. JUL 15 2001; 72 (1) : 38-44

Cao-B; Pruchnic-R; Ikezawa-M; Xiao-X; Li-J; Wickham-TJ; Kovesdi-I; Rudert-WA; Huard-J
The role of receptors in the maturation-dependent adenoviral transduction of myofibers
GENE-THERAPY. APR 2001; 8 (8) : 627-637

Capozzoli,-G; Auricchio,-F; Accinelli,-G
Total intravenous anaesthesia without muscle relaxants in a child with diagnosed Duchenne muscular dystrophy.
Minerva-Anestesiol. 2000 Nov; 66(11): 839-40

Carlson-CG; Roshek-DM
Adult dystrophic (mdx) endplates exhibit reduced quantal size and enhanced quantal variation
PFLUGERS-ARCHIV-EUROPEAN-JOURNAL-OF-PHYSIOLOGY. JUN 2001; 442 (3) : 369-375

Carretta,-D; Santarelli,-M; Vanni,-D; Carrai,-R; Sbriccoli,-A; Pinto,-F; Minciacchi,-D
The organisation of spinal projecting brainstem neurons in an animal model of muscular dystrophy. A retrograde tracing study on mdx mutant mice.
Brain-Res. 2001 Mar 23; 895(1-2): 213-22

Chamberlain,-J-S
Muscular dystrophy meets the gene chip: new insights into disease pathogenesis.
J-Cell-Biol. 2000 Dec 11; 151(6): F43-5

Chamberlain,-J-S; Benian,-G-M
Muscular dystrophy: the worm turns to genetic disease.
Curr-Biol. 2000 Nov 2; 10(21): R795-7

Chan-KG; Galasko-CSB; Delaney-C
Hip subluxation and dislocation in Duchenne Muscular Dystrophy
JOURNAL-OF-PEDIATRIC-ORTHOPAEDICS-PART-B. JUL 2001; 10 (3) : 219-225

Chaturvedi,-L-S; Mittal,-R-D; Srivastava,-S; Mukherjee,-M; Mittal,-B
Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy.
Clin-Genet. 2000 Sep; 58(3): 234-6

Chaturvedi,-L-S; Srivastava,-S; Mukherjee,-M; Mittal,-R-D; Phadke,-S-R; Pradhan,-S; Mittal,-B
Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene.
Indian-J-Med-Res. 2001 Jan; 11319-25

Chen,-Y-W; Zhao,-P; Borup,-R; Hoffman,-E-P
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.
J-Cell-Biol. 2000 Dec 11; 151(6): 1321-36

Chen-SS; Wang-DC; Chen-TJ; Yang-SL
Administration of Chinese herbal medicines facilitates the locomotor activity in dystrophin-deficient mice
AMERICAN-JOURNAL-OF-CHINESE-MEDICINE. 2001; 29 (2) : 281-292

Chen-YW; Zhao-P; Borup-R; Hoffman-EP
Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathophysiology
JOURNAL-OF-CELL-BIOLOGY. DEC 11 2000; 151 (6) : 1321-1336

Childers,-M-K; Okamura,-C-S; Bogan,-D-J; Bogan,-J-R; Sullivan,-M-J; Kornegay,-J-N
Myofiber injury and regeneration in a canine homologue of Duchenne muscular dystrophy.
Am-J-Phys-Med-Rehabil. 2001 Mar; 80(3): 175-81

Claudepierre,-T; Dalloz,-C; Mornet,-D; Matsumura,-K; Sahel,-J; Rendon,-A
Characterization of the intermolecular associations of the dystrophin-associated glycoprotein complex in retinal Muller glial cells.
J-Cell-Sci. 2000 Oct; 113 Pt 193409-17

Corbett-MA; Robinson-CS; Dunglison-GF; Yang-N; Joya-JE; Stewart-AW; Schnell-C; Gunning-PW; North-KN; Hardeman-EC
A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy
HUMAN-MOLECULAR-GENETICS. FEB 15 2001; 10 (4) : 317-328

Cornu,-C; Goubel,-F; Fardeau,-M
Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy.
J-Physiol. 2001 Jun 1; 533(Pt 2): 605-16

Cotton,-S; Voudouris,-N-J; Greenwood,-K-M
Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients.
Dev-Med-Child-Neurol. 2001 Jul; 43(7): 497-501

Cozzi-F; Cerletti-M; Luvoni-GC; Lombardo-R; Brambilla-PG; Faverzani-S; Blasevich-F; Cornelio-F; Pozza-O; Mora-M
Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development
ACTA-NEUROPATHOLOGICA. MAY 2001; 101 (5) : 469-478

Crilley,-J-G; Boehm,-E-A; Rajagopalan,-B; Blamire,-A-M; Styles,-P; Muntoni,-F; Hilton-Jones,-D; Clarke,-K
Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophy.
J-Am-Coll-Cardiol. 2000 Nov 15; 36(6): 1953-8

Crosbie,-R-H
NO vascular control in Duchenne muscular dystrophy.
Nat-Med. 2001 Jan; 7(1): 27-9

Dalakas-MC
Progress in inflammatory myopathies: good but not good enough
JOURNAL-OF-NEUROLOGY-NEUROSURGERY-AND-PSYCHIATRY. MAY 2001; 70 (5) : 569-573

Dalakas-MC; Koffman-B; Fujii-M; Spector-S; Sivakumar-K; Cupler-E
A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM
NEUROLOGY-. FEB 13 2001; 56 (3) : 323-327

Dalloz,-C; Claudepierre,-T; Rodius,-F; Mornet,-D; Sahel,-J; Rendon,-A
Differential distribution of the members of the dystrophin glycoprotein complex in mouse retina: effect of the mdx(3Cv) mutation.
Mol-Cell-Neurosci. 2001 May; 17(5): 908-20

De-Bruin,-P-F; Ueki,-J; Bush,-A; Y--Manzur,-A; Watson,-A; Pride,-N-B
Inspiratory flow reserve in boys with Duchenne muscular dystrophy.
Pediatr-Pulmonol. 2001 Jun; 31(6): 451-7

Del-Bo-R; Torrente-Y; Corti-S; D'-Angelo-MG; Comi-GP; Fagiolari-G; Salani-S; Cova-A; Pisati-F; Moggio-M; Ausenda-C; Scarlato-G; Bresolin-N
In vitro and in vivo tetracycline-controlled myogenic conversion of NIH-3T3 cells: Evidence of programmed cell death after muscle cell transplantation
CELL-TRANSPLANTATION. MAR-APR 2001; 10 (2) : 209-221

Di-Donna-S; Renault-V; Forestier-C; Piron-Hamelin-G; Thiesson-D; Cooper-RN; Ponsot-E; Decary-S; Amouri-R; Hentati-F; Butler-Browne-GS; Mouly-V
Regenerative capacity of human satellite cells: the mitotic clock in cell transplantation
NEUROLOGICAL-SCIENCES. 2000; 21 (5) Suppl. S : S943-S951

Dirik,-E; Aydin,-A; Kurul,-S; Sahin,-B
Limb girdle muscular dystrophy type 2A presenting with cardiac arrest.
Pediatr-Neurol. 2001 Mar; 24(3): 235-7

Dorling-J; Salt-A
Evidence based case report - Assessing developmental delay
BRITISH-MEDICAL-JOURNAL. JUL 21 2001; 323 (7305) : 148-149

Ebihara,-S; Guibinga,-G-H; Gilbert,-R; Nalbantoglu,-J; Massie,-B; Karpati,-G; Petrof,-B-J
Differential effects of dystrophin and utrophin gene transfer in immunocompetent muscular dystrophy (mdx) mice.
Physiol-Genomics. 2000 Sep 8; 3(3): 133-44

Effat,-L-K; El-Harouni,-A-A; Amr,-K-S; El-Minisi,-T-I; Abdel-Meguid,-N; El-Awady,-M
Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.
Dis-Markers. 2000; 16(3-4): 125-9

Emery,-A
Duchenne muscular dystrophy or Meryon's disease.
Lancet. 2001 May 12; 357(9267): 1529

Emery,-A-E; Emery,-M-L
Lockhart Clarke (1817-1880): his role in the early history of muscular dystrophy.
Neuromuscul-Disord. 2000 Oct; 10(7): 530-3

Endesfelder,-S; Krahn,-A; Kreuzer,-K-A; Lass,-U; Schmidt,-C-A; Jahrmarkt,-C; von-Moers,-A; Speer,-A
Elevated p21 mRNA level in skeletal muscle of DMD patients and mdx mice indicates either an exhausted satellite cell pool or a higher p21 expression in dystrophin-deficient cells per se.
J-Mol-Med. 2000; 78(10): 569-74

Engel-U; Bohlander-SK; Bink-K; Hinney-B; Laccone-F; Bartels-I
Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism
HUMAN-REPRODUCTION. JAN 2001; 16 (1) : 63-66

Escolar,-D-M; Henricson,-E-K; Mayhew,-J; Florence,-J; Leshner,-R; Patel,-K-M; Clemens,-P-R
Clinical evaluator reliability for quantitative and manual muscle testing measures of strength in children.
Muscle-Nerve. 2001 Jun; 24(6): 787-93

Espinos-E; Liu-JH; Bader-CR; Bernheim-L
Efficient non-viral DNA-mediated gene transfer to human primary myoblasts using electroporation
NEUROMUSCULAR-DISORDERS. MAY 2001; 11 (4) : 341-349

Essex,-C; Roper,-H
Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay.
BMJ. 2001 Jul 7; 323(7303): 37-8

Faist-V; Konig-J; Hoger-H; Elmadfa-I
Decreased mitochondrial oxygen consumption and antioxidant enzyme activities in skeletal muscle of dystrophic mice after low-intensity exercise
ANNALS-OF-NUTRITION-AND-METABOLISM. MAR-APR 2001; 45 (2) : 58-66

Fajkusova-L; Lukas-Z; Tvrdikova-M; Kuhrova-V; Hajek-J; Fajkus-J
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation
NEUROMUSCULAR-DISORDERS. MAR 2001; 11 (2) : 133-138

Fassati-A; Bresolin-N
Retroviral vectors for gene therapy of Duchenne muscular dystrophy
NEUROLOGICAL-SCIENCES. 2000; 21 (5) Suppl. S : S925-S927

Fenichel,-G-M; Griggs,-R-C; Kissel,-J; Kramer,-T-I; Mendell,-J-R; Moxley,-R-T; Pestronk,-A; Sheng,-K; Florence,-J; King,-W-M; Pandya,-S; Robison,-V-D; Wang,-H
A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne dystrophy.
Neurology. 2001 Apr 24; 56(8): 1075-9

Feussner-M; Richter-H; Baum-O; Gossrau-R
Association of soluble guanylate cyclase with the sarcolemma of mammalian skeletal muscle fibers
ACTA-HISTOCHEMICA. JUL 2001; 103 (3) : 265-277

Fibbi,-G; Barletta,-E; Dini,-G; Del-Rosso,-A; Pucci,-M; Cerletti,-M; Del-Rosso,-M
Cell invasion is affected by differential expression of the urokinase plasminogen activator/urokinase plasminogen activator receptor system in muscle satellite cells from normal and dystrophic patients.
Lab-Invest. 2001 Jan; 81(1): 27-39

Fishel,-B; Zhukovsky,-G; Legum,-C; Jossiphov,-J; Alon,-M; Peer,-G; Iaina,-A; Nevo,-Y
A case of Bartter's syndrome, gout and Becker's muscular dystrophy.
Clin-Exp-Rheumatol. 2000 May-Jun; 18(3): 426-7

Fitzgerald-KM; Hashimoto-T; Hug-TE; Cibis-GW; Harris-DJ
Autosomal dominant inheritance of a negative electroretinogram phenotype in three generations
AMERICAN-JOURNAL-OF-OPHTHALMOLOGY. APR 2001; 131 (4) : 495-502

Fletcher,-S; Ly,-T; Duff,-R-M; McC-Howell,-J; Wilton,-S-D
Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy.
Neuromuscul-Disord. 2001 Apr; 11(3): 239-43

Fortina,-P; Cheng,-J; Kricka,-L-J; Waters,-L-C; Jacobson,-S-C; Wilding,-P; Ramsey,-J-M
DOP-PCR amplification of whole genomic DNA and microchip-based capillary electrophoresis.
Methods-Mol-Biol. 2001; 163: 211-9

Fortina,-P; Cheng,-J; Kricka,-L-J; Waters,-L-C; Jacobson,-S-C; Wilding,-P; Ramsey,-J-M
DOP-PCR amplification of whole genomic DNA and microchip-based capillary electrophoresis.
Methods-Mol-Biol. 2001; 163: 211-9

Frank,-G-R; Smith,-R-E
Effective growth hormone therapy in a growth hormone deficient patient with Duchenne muscular dystropy without evidence of acceleration of the dystrophic process.
J-Pediatr-Endocrinol-Metab. 2001 Feb; 14(2): 211-4

Frigeri-A; Nicchia-GP; Nico-B; Quondamatteo-F; Herken-R; Roncali-L; Svelto-M
Aquaporin-4 deficiency in skeletal muscle and brain of dystrophic mdx mice
FASEB-JOURNAL. JAN 2001; 15 (1) : 90-98

Frischhut,-B; Krismer,-M; Stoeckl,-B; Landauer,-F; Auckenthaler,-T
Pelvic tilt in neuromuscular disorders.
J-Pediatr-Orthop-B. 2000 Oct; 9(4): 221-8

Fukudome,-T; Shibuya,-N; Yoshimura,-T; Eguchi,-K
Short-term effects of prednisolone on neuromuscular transmission in the isolated mdx mouse diaphragm.
Tohoku-J-Exp-Med. 2000 Nov; 192(3): 211-7

Galvagni-F; Capo-S; Oliviero-S
Sp1 and Sp3 physically interact and co-operate with GABP for the activation of the utrophin promoter
JOURNAL-OF-MOLECULAR-BIOLOGY. MAR 9 2001; 306 (5) : 985-996

Garcia-Tovar-CG; Perez-A; Luna-J; Mena-R; Osorio-B; Aleman-V; Mondragon-R; Mornet-D; Rendon-A; Hernandez-JM
Biochemical and histochemical analysis of 71 kDa dystrophin isoform (Dp71f) in rat brain
ACTA-HISTOCHEMICA. APR 2001; 103 (2) : 209-224

Gaschen-F; Burgunder-JM
Changes of skeletal muscle in young dystrophin-deficient cats: a morphological and morphometric study
ACTA-NEUROPATHOLOGICA. JUN 2001; 101 (6) : 591-600

Georgesco,-M; Salerno,-A
Les activites spontanees en electromyographie. Interets pratiques.
Neurophysiol-Clin. 2000 Oct; 30(5): 289-305

Geuna-S; Borrione-P; Fornaro-M; Giacobini-Robecchi-MG
Adult stem cells and neurogenesis: Historical roots and state of the art
ANATOMICAL-RECORD. JUN 15 2001; 265 (3) : 132-140,141

Gibson,-B
Long-term ventilation for patients with Duchenne muscular dystrophy : physicians' beliefs and practices.
Chest. 2001 Mar; 119(3): 940-6

Gieseler-K; Mariol-MC; Bessou-C; Migaud-M; Franks-CJ; Holden-Dye-L; Segalat-L
Molecular, genetic and physiological characterisation of dystrobrevin-like (dyb-1) mutants of Caenorhabditis elegans
JOURNAL-OF-MOLECULAR-BIOLOGY. MAR 16 2001; 307 (1) : 107-117

Gillis,-J-M
An attempt of gene therapy in Duchenne muscular dystrophy: overexpression of utrophin in transgenic mdx mice.
Acta-Neurol-Belg. 2000 Sep; 100(3): 146-50

Goldring,-K; Jones,-G-E; Watt,-D-J
A factor implicated in the myogenic conversion of nonmuscle cells derived from the mouse dermis.
Cell-Transplant. 2000 Jul-Aug; 9(4): 519-29

Gong,-Q-Y; Phoenix,-J; Kemp,-G-J; Garcia-Finana,-M; Frostick,-S-P; Brodie,-D-A; Edwards,-R-H; Whitehouse,-G-H; Roberts,-N
Estimation of body composition in muscular dystrophy by MRI and stereology.
J-Magn-Reson-Imaging. 2000 Sep; 12(3): 467-75

Gotze-C; Hackenberg-L; Liljenqvist-U; Halm-H
Operative correction and stabilisation of neuromuscular scoliosis: A critical analysis of the 2-4 year results
ZEITSCHRIFT-FUR-ORTHOPADIE-UND-IHRE-GRENZGEBIETE. JAN-FEB 2001; 139 (1) : 31-39

Grain,-L; Cortina-Borja,-M; Forfar,-C; Hilton-Jones,-D; Hopkin,-J; Burch,-M
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls.
Neuromuscul-Disord. 2001 Mar; 11(2): 186-91

Grain-L; Cortina-Borja-M; Forfar-C; Hilton-Jones-D; Hopkin-J; Burch-M
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls
NEUROMUSCULAR-DISORDERS. MAR 2001; 11 (2) : 186-191

Griffin-JL; Williams-HJ; Sang-E; Clarke-K; Rae-C; Nicholson-JK
Metabolic profiling of genetic disorders: A multitissue H-1 nuclear magnetic resonance spectroscopic and pattern recognition study into dystrophic tissue
ANALYTICAL-BIOCHEMISTRY. JUN 1 2001; 293 (1) : 16-21

Griffin-JL; Williams-HJ; Sang-E; Nicholson-JK
Abnormal lipid profile of dystrophic cardiac tissue as demonstrated by one- and two-dimensional magic-angle spinning H-1 NMR spectroscopy
MAGNETIC-RESONANCE-IN-MEDICINE. AUG 2001; 46 (2) : 249-255

Gronert-GA
Cardiac arrest after succinylcholine - Mortality greater with Rhabdomyolysis than receptor upregulation
ANESTHESIOLOGY-. MAR 2001; 94 (3) : 523-529

Grounds,-M-D
Myoblast transfer therapy in the new millennium.
Cell-Transplant. 2000 Jul-Aug; 9(4): 485-7

Hammerer-Lercher,-A; Erlacher,-P; Bittner,-R; Korinthenberg,-R; Skladal,-D; Sorichter,-S; Sperl,-W; Puschendorf,-B; Mair,-J
Clinical and experimental results on cardiac troponin expression in Duchenne muscular dystrophy.
Clin-Chem. 2001; 47(3): 451-8

Hartel-JV; Granchelli-JA; Hudecki-MS; Pollina-CM; Gosselin-LE
Impact of prednisone on TCF-beta 1 and collagen in diaphragm muscle from mdx mice
MUSCLE-AND-NERVE. MAR 2001; 24 (3) : 428-432

Hatzakorzian,-R; Robbins,-R; Plourde,-G
Spinal anesthesia at the cervicothoracic level.
Anesthesiology. 2001 Jul; 95(1): 266-8

Hausmanowa-Petrusewicz,-I; Fidzianska,-A; Niebroj-Dobosz,-I; Dorobek,-M; Bojakowski,-J
Dystrophinopathies in females.
Folia-Neuropathol. 2000; 38(1): 7-12

Hawke-TJ; Garry-DJ
Myogenic satellite cells: physiology to molecular biology
JOURNAL-OF-APPLIED-PHYSIOLOGY. AUG 2001; 91 (2) : 534-551

Hayashi,-Y-K; Tezak,-Z; Momoi,-T; Nonaka,-I; Garcia,-C-A; Hoffman,-E-P; Arahata,-K
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy.
Neuromuscul-Disord. 2001 May; 11(4): 350-9

Heller,-K-D; Wirtz,-D-C; Siebert,-C-H; Forst,-R
Spinal stabilization in Duchenne muscular dystrophy: principles of treatment and record of 31 operative treated cases.
J-Pediatr-Orthop-B. 2001 Jan; 10(1): 18-24

Heslop,-L; Beauchamp,-J-R; Tajbakhsh,-S; Buckingham,-M-E; Partridge,-T-A; Zammit,-P-S
Transplanted primary neonatal myoblasts can give rise to functional satellite cells as identified using the Myf5nlacZl+ mouse.
Gene-Ther. 2001 May; 8(10): 778-83

Heslop,-L; Beauchamp,-J-R; Tajbakhsh,-S; Buckingham,-M-E; Partridge,-T-A; Zammit,-P-S
Transplanted primary neonatal myoblasts can give rise to functional satellite cells as identified using the Myf5nlacZl+ mouse.
Gene-Ther. 2001 May; 8(10): 778-83

Hill-NS
Noninvasive ventilation in chronic obstructive pulmonary disease
CLINICS-IN-CHEST-MEDICINE. DEC 2000; 21 (4) : 783-797,X

Hinton,-V-J; De-Vivo,-D-C; Nereo,-N-E; Goldstein,-E; Stern,-Y
Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of duchenne muscular dystrophy.
J-Int-Neuropsychol-Soc. 2001 Jan; 7(1): 45-54

Hochman,-J-A; Woodard,-S-A; Cohen,-M-B
Exacerbation of autoimmune hepatitis: another hepatotoxic effect of pemoline therapy.
Pediatrics. 1998 Jan; 101(1 Pt 1): 106-8

Hodgetts,-S-I; Beilharz,-M-W; Scalzo,-A-A; Grounds,-M-D
Why do cultured transplanted myoblasts die in vivo? DNA quantification shows enhanced survival of donor male myoblasts in host mice depleted of CD4+ and CD8+ cells or Nk1.1+ cells.
Cell-Transplant. 2000 Jul-Aug; 9(4): 489-502

Hodgetts,-S-I; Grounds,-M-D
Complement and myoblast transfer therapy: donor myoblast survival is enhanced following depletion of host complement C3 using cobra venom factor, but not in the absence of C5.
Immunol-Cell-Biol. 2001 Jun; 79(3): 231-9

Hoogerwaard,-E-M; Ginjaar,-H-B; Wilde,-A-A; Leschot,-N-J; de-Voogt,-W-G; de-Visser,-M
Het hartzeer van een spierdystrofie.
Ned-Tijdschr-Geneeskd. 2000 Nov 11; 144(46): 2181-4

Hoogerwaard,-E-M; Schouten,-Y; van-der-Kooi,-A-J; Gorgels,-J-P; de-Visser,-M; Sanders,-G-T
Troponin T and troponin I in carriers of Duchenne and Becker muscular dystrophy with cardiac involvement.
Clin-Chem. 2001 May; 47(5): 962-3

Hopf,-C-G; Eysel,-P
One-stage versus two-stage spinal fusion in neuromuscular scolioses.
J-Pediatr-Orthop-B. 2000 Oct; 9(4): 234-43

Hopkins,-J-C; Bia,-B-L; Crilley,-J-G; Boehm,-E-A; Sang,-A-E; Tinsley,-J-M; King,-L-M; Radda,-G-K; Davies,-K-E; Clarke,-K
Muscular dystrophy: from gene to patient.
MAGMA. 2000 Nov; 11(1-2): 7-9

Hrdlicka-I; Zadina-J; Krejci-R; Srbova-A; Kucerova-M
Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
FOLIA-BIOLOGICA. 2001; 47 (3) : 81-87

Hussain-T; Mangath-H; Sundaram-C; Anandaraj-MPJS
Expression of the gene for large subunit of m-calpain is elevated in skeletal muscle from Duchenne muscular dystrophy patients
JOURNAL-OF-GENETICS. AUG 2000; 79 (2) : 77-80

Hyde,-S-A; Steffensen,-B-F; Floytrup,-I; Glent,-S; Kroksmark,-A-K; Salling,-B; Werlauff,-U; Erlandsen,-M
Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy.
Neuromuscul-Disord. 2001 Mar; 11(2): 165-70

Iandelli,-I; Gorini,-M; Misuri,-G; Gigliotti,-F; Rosi,-E; Duranti,-R; Scano,-G
Assessing inspiratory muscle strength in patients with neurologic and neuromuscular diseases : comparative evaluation of two noninvasive techniques.
Chest. 2001 Apr; 119(4): 1108-13

Ichida-F; Tsubata-S; Bowles-KR; Haneda-N; Uese-K; Miyawaki-T; Dreyer-WJ; Messina-J; Li-H; Bowles-NE; Towbin-JA
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
CIRCULATION-. MAR 6 2001; 103 (9) : 1256-1263

Iwanczak,-F; Stawarski,-A; Potyrala,-M; Siedlecka-Dawidko,-J; Agrawal,-G-S
Early symptoms of Duchenne muscular dystrophy--description of cases of an 18-month-old and an 8-year-old patient.
Med-Sci-Monit. 2000 May-Jun; 6(3): 592-5

Jakubiczka,-S; Mitulla,-B; Liehr,-T; Arnemann,-J; Lehrach,-H; Sudbrak,-R; Stumm,-M; Wieacker,-P-F; Bettecken,-T
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.
Prenat-Diagn. 2000 Oct; 20(10): 842-6

Jankowski-RJ; Haluszczak-C; Trucco-M; Huard-J
Flow cytometric characterization of myogenic cell populations obtained via the preplate technique: Potential for rapid isolation of muscle-derived stem cells
HUMAN-GENE-THERAPY. APR 2001; 12 (6) : 619-628

Jarvinen,-O; Lehesjoki,-A-E; Lindlof,-M; Uutela,-A; Kaariainen,-H
Carrier testing of children for two X-linked diseases: A retrospective study of comprehension of the test results and social and psychological significance of the testing.
Pediatrics. 2000 Dec; 106(6): 1460-5

Jay,-V; Vajsar,-J
The dystrophy of Duchenne.
Lancet. 2001 Feb 17; 357(9255): 550-2

Kaji-EH; Leiden-JM
Gene and stem cell therapies
JAMA-JOURNAL-OF-THE-AMERICAN-MEDICAL-ASSOCIATION. FEB 7 2001; 285 (5) : 545-550

Kalra,-V
Muscular dystrophies.
Indian-J-Pediatr. 2000 Dec; 67(12): 923-8

Kamogawa-Y; Biro-S; Maeda-M; Setoguchi-M; Hirakawa-T; Yoshida-H; Tei-C
Dystrophin-deficient myocardium is vulnerable to pressure overload in vivo
CARDIOVASCULAR-RESEARCH. JUN 2001; 50 (3) : 509-515

Kanzato,-N; Suehara,-M; Mayumi,-H; Hirata,-K; Ohta,-M; Kuniyoshi,-M; Kuniyoshi,-K
[Tracheopulmonary-subcutaneous fistula associated with anaerobic subcutaneous abscess on mechanical ventilator support in a patient with Duchenne muscular dystrophy]
Rinsho-Shinkeigaku. 2000 May; 40(5): 490-3

Kapsa-R; Quigley-A; Lynch-GS; Steeper-K; Kornberg-AJ; Gregorevic-P; Austin-L; Byrne-E
In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement
HUMAN-GENE-THERAPY. APR 2001; 12 (6) : 629-642

Karpati,-G; Lochmuller,-H
When running a stop sign may be a good thing.
Ann-Neurol. 2001 Jun; 49(6): 693-4

Kerst,-B; Mennerich,-D; Schuelke,-M; Stoltenburg-Didinger,-G; von-Moers,-A; Gossrau,-R; van-Landeghem,-F-K; Speer,-A; Braun,-T; Hubner,-C
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.
Neuromuscul-Disord. 2000 Dec; 10(8): 572-7

King,-A-G; Thomas,-K-A; Eiserloh,-H-L; Mills,-T-E; Pisciotta,-D-N
Analysis of the STIF technique for spino-pelvic fixation: clinical results in 19 patients with neuromuscular scoliosis.
J-Pediatr-Orthop. 2000 Sep-Oct; 20(5): 667-76

Knuesel-I; Zuellig-RA; Schaub-MC; Fritschy-JM
Alterations in dystrophin and utrophin expression parallel the reorganization of GABAergic synapses in a mouse model of temporal lobe epilepsy
EUROPEAN-JOURNAL-OF-NEUROSCIENCE. MAR 2001; 13 (6) : 1113-1124

Kong-JM; Anderson-JE
Dynamic restoration of dystrophin to dystrophin deficient myotubes
MUSCLE-AND-NERVE. JAN 2001; 24 (1) : 77-88

Korones,-D-N; Brown,-M-R; Palis,-J
"Liver function tests" are not always tests of liver function.
Am-J-Hematol. 2001 Jan; 66(1): 46-8

Krag,-T-O; Gyrd-Hansen,-M; Khurana,-T-S
Harnessing the potential of dystrophin-related proteins for ameliorating Duchenne's muscular dystrophy.
Acta-Physiol-Scand. 2001 Mar; 171(3): 349-58

Krepischi-Santos-ACV; Carneiro-JDA; Svartman-M; Bendit-I; Odone-V; Vianna-Morgante-AM
Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B
BRITISH-JOURNAL-OF-HAEMATOLOGY. JUN 2001; 113 (3) : 616-620

Krolenko-SA; Lucy-JA
Reversible vacuolation of T-tubules in skeletal muscle: Mechanisms and implications for cell biology
INTERNATIONAL-REVIEW-OF-CYTOLOGY --A-SURVEY-OF-CELL-BIOLOGY-VOL-202. 2001; VOL 202 : 243-298

Kumamoto,-T; Fujimoto,-S; Ito,-T; Horinouchi,-H; Ueyama,-H; Tsuda,-T
Proteasome expression in the skeletal muscles of patients with muscular dystrophy.
Acta-Neuropathol-(Berl). 2000 Dec; 100(6): 595-602

Kumamoto,-T; Ito,-T; Horinouchi,-H; Ueyama,-H; Toyoshima,-I; Tsuda,-T
Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles.
Muscle-Nerve. 2000 Nov; 23(11): 1686-93

Lanza,-G-A; Russo,-A-D; Giglio,-V; De-Luca,-L; Messano,-L; Santini,-C; Ricci,-E; Damiani,-A; Fumagalli,-G; De-Martino,-G; Mangiola,-F; Bellocci,-F
Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: relationship to myocardial and respiratory function.
Am-Heart-J. 2001 May; 141(5): 808-12

Laurin-EG; Sakles-JC; Panacek-EA; Rantapaa-AA; Redd-J
A comparison of succinylcholine and rocuronium for rapid-sequence intubation of emergency department patients
ACADEMIC-EMERGENCY-MEDICINE. DEC 2000; 7 (12) : 1362-1369

Leppig-KA; Disteche-CM
Ring X and other structural X chromosome abnormalities: X inactivation and phenotype
SEMINARS-IN-REPRODUCTIVE-MEDICINE. JUN 2001; 19 (2) : 147-157

Liu-F; Nishikawa-M; Clemens-PR; Huang-L
Transfer of full-length Dmd to the diaphragm muscle of Dmd(mdx/mdx) mice through systemic administration of plasmid DNA
MOLECULAR-THERAPY. JUL 2001; 4 (1) : 45-51

Louboutin-JP; Rouger-K; Tinsley-JM; Halldorson-J; Wilson-JM
iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin
MOLECULAR-MEDICINE. MAY 2001; 7 (5) : 355-364

Loufrani,-L; Matrougui,-K; Gorny,-D; Duriez,-M; Blanc,-I; Levy,-B-I; Henrion,-D
Flow (shear stress)-induced endothelium-dependent dilation is altered in mice lacking the gene encoding for dystrophin.
Circulation. 2001 Feb 13; 103(6): 864-70

Ludwig-M; Geipel-A; Berg-C; Gembruch-U; Schwinger-E; Diedrich-K
Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography
FETAL-DIAGNOSIS-AND-THERAPY. MAR-APR 2001; 16 (2) : 68-82

Lundberg-IE
The physiology of inflammatory myopathies: an overview
ACTA-PHYSIOLOGICA-SCANDINAVICA. MAR 2001; 171 (3) : 207-213

Lunshof,-L; Schweizer,-J-J
Acute maagdilatatie bij de ziekte van Duchenne.
Ned-Tijdschr-Geneeskd. 2000 Nov 11; 144(46): 2214-7

Lynch,-G-S; Cuffe,-S-A; Plant,-D-R; Gregorevic,-P
IGF-I treatment improves the functional properties of fast- and slow-twitch skeletal muscles from dystrophic mice.
Neuromuscul-Disord. 2001 Apr; 11(3): 260-8

Lynch,-G-S; Hinkle,-R-T; Faulkner,-J-A
Force and power output of diaphragm muscle strips from mdx and control mice after clenbuterol treatment.
Neuromuscul-Disord. 2001 Mar; 11(2): 192-6

Lynch-GS; Cuffe-SA; Plant-DR; Gregorevic-P
IGF-I treatment improves the functional properties of fast- and slow-twitch skeletal muscles from dystrophic mice
NEUROMUSCULAR-DISORDERS. APR 2001; 11 (3) : 260-268

Mann,-C-J; Honeyman,-K; Cheng,-A-J; Ly,-T; Lloyd,-F; Fletcher,-S; Morgan,-J-E; Partridge,-T-A; Wilton,-S-D
Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse.
Proc-Natl-Acad-Sci-U-S-A. 2001 Jan 2; 98(1): 42-7

Marchand-E; Constantin-B; Vandebrouck-C; Raymond-G; Cognard-C
Calcium homeostasis and cell death in Sol8 dystrophin-deficient cell line in culture
CELL-CALCIUM. FEB 2001; 29 (2) : 85-96

Marchand-S; Stetzkowski-Marden-F; Cartaud-J
Differential targeting of components of the dystrophin complex to the postsynaptic membrane
EUROPEAN-JOURNAL-OF-NEUROSCIENCE. JAN 2001; 13 (2) : 221-229

Marcus-CL
Sleep-disordered breathing in children
AMERICAN-JOURNAL-OF-RESPIRATORY-AND-CRITICAL-CARE-MEDICINE. JUL 2001; 164 (1) : 16-30

Matecki,-S; Topin,-N; Hayot,-M; Rivier,-F; Echenne,-B; Prefaut,-C; Ramonatxo,-M
A standardized method for the evaluation of respiratory muscle endurance in patients with Duchenne muscular dystrophy.
Neuromuscul-Disord. 2001 Mar; 11(2): 171-7

Matsumura,-T; Saito,-T; Miyai,-I; Nozaki,-S; Kang,-J
[Electrolyte abnormalities and metabolic acidosis in two Duchenne muscular dystrophy patients with advanced congestive heart failure]
Rinsho-Shinkeigaku. 2000 May; 40(5): 439-45

Mehta-S; Hill-NS
Noninvasive ventilation
AMERICAN-JOURNAL-OF-RESPIRATORY-AND-CRITICAL-CARE-MEDICINE. FEB 2001; 163 (2) : 540-577

Melacini-P; Gambino-A; Caforio-A; Barchitta-A; Valente-ML; Angelini-A; Fanin-M; Thiene-G; Angelini-C; Casarotto-D; Danieli-GA; Dalla-Volta-S
Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: Molecular and biochemical defects on cardiac and skeletal muscle
TRANSPLANTATION-PROCEEDINGS. FEB-MAR 2001; 33 (1-2) : 1596-1599

Mendell,-J-R; Buzin,-C-H; Feng,-J; Yan,-J; Serrano,-C; Sangani,-D-S; Wall,-C; Prior,-T-W; Sommer,-S-S
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.
Neurology. 2001 Aug 28; 57(4): 645-50

Minatel-E; Neto-HS; Marques-MJ
Acetylcholine receptors and neuronal nitric oxide synthase distribution at the neuromuscular junction of regenerated muscle fibers
MUSCLE-AND-NERVE. MAR 2001; 24 (3) : 410-416

Minshew,-P-T; Silverman,-E-D; Samuels-Botts,-C
Becker muscular dystrophy associated with focal myositis on bone scintigraphy.
Clin-Nucl-Med. 2000 Dec; 25(12): 1010-2

Mohamed,-K; Appleton,-R; Nicolaides,-P
Delayed diagnosis of Duchenne muscular dystrophy.
Europ-J-Paediatr-Neurol. 2000; 4(5): 219-23

Moizard,-M-P; Toutain,-A; Fournier,-D; Berret,-F; Raynaud,-M; Billard,-C; Andres,-C; Moraine,-C
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
Eur-J-Hum-Genet. 2000 Jul; 8(7): 552-6

Momose,-M; Iguchi,-N; Imamura,-K; Usui,-H; Ueda,-T; Miyamoto,-K; Inaba,-S
Depressed myocardial fatty acid metabolism in patients with muscular dystrophy.
Neuromuscul-Disord. 2001 Jul; 11(5): 464-9

Monti-RJ; Roy-RR; Edgerton-VR
Role of motor unit structure in defining function
MUSCLE-AND-NERVE. JUL 2001; 24 (7) : 848-866

Moukhles-H; Carbonetto-S
Dystroglycan contributes to the formation of multiple dystrophin-like complexes in brain
JOURNAL-OF-NEUROCHEMISTRY. AUG 2001; 78 (4) : 824-834

Mule-F; Serio-R
Increased calcium influx is responsible for the sustained mechanical tone in colon from dystrophic (mdx) mice
GASTROENTEROLOGY-. MAY 2001; 120 (6) : 1430-1437

Muntoni,-F
Is a muscle biopsy in Duchenne dystrophy really necessary?
Neurology. 2001 Aug 28; 57(4): 574-5

Nair-KPS; Vasanth-A; Gourie-Devi-M; Taly-AB; Rao-S; Gayathri-N; Murali-T
Disabilities in children with Duchenne muscular dystrophy: A profile
JOURNAL-OF-REHABILITATION-MEDICINE. JUL 2001; 33 (4) : 147-149

Nakae-Y; Stoward-PJ; Shone-M; Matsuzaki-T
Most apoptotic cells in mdx diaphragm muscle contain accumulated lipofuscin
HISTOCHEMISTRY-AND-CELL-BIOLOGY. MAR 2001; 115 (3) : 205-214

Nakamura,-A; Harrod,-G-V; Davies,-K-E
Activation of calcineurin and stress activated protein kinase/p38-mitogen activated protein kinase in hearts of utrophin-dystrophin knockout mice.
Neuromuscul-Disord. 2001 Apr; 11(3): 251-9

Nakamura-TY; Iwata-Y; Sampaolesi-M; Hanada-H; Saito-N; Artman-M; Coetzee-WA; Shigekawa-M
Stretch-activated cation channels in skeletal muscle myotubes from sarcoglycan-deficient hamsters
AMERICAN-JOURNAL-OF-PHYSIOLOGY-CELL-PHYSIOLOGY. AUG 2001; 281 (2) : C690-C699

Neuman,-S; Kaban,-A; Volk,-T; Yaffe,-D; Nudel,-U
The dystrophin / utrophin homologues in Drosophila and in sea urchin.
Gene. 2001 Jan 24; 263(1-2): 17-29

Newey-SE; Gramolini-AO; Wu-J; Holzfeind-P; Jasmin-BJ; Davies-KE; Blake-DJ
A novel mechanism for modulating synaptic gene expression: Differential localization of alpha-dystrobrevin transcripts in skeletal muscle
MOLECULAR-AND-CELLULAR-NEUROSCIENCE. JAN 2001; 17 (1) : 127-140

Newey-SE; Howman-EV; Ponting-CP; Benson-MA; Nawrotzki-R; Loh-NY; Davies-KE; Blake-DJ
Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle
JOURNAL-OF-BIOLOGICAL-CHEMISTRY. MAR 2 2001; 276 (9) : 6645-6655

Nicolas-Metral-V; Raddatz-E; Kucera-P; Ruegg-UT
Mdx myotubes have normal excitability but show reduced contraction-relaxation dynamics
JOURNAL-OF-MUSCLE-RESEARCH-AND-CELL-MOTILITY. JAN 2001; 22 (1) : 69-75

Niemann,-C-U; Krag,-T-O; Khurana,-T-S
Identification of genes that are differentially expressed in extraocular and limb muscle.
J-Neurol-Sci. 2000 Oct 1; 179(S 1-2): 76-84

Nishimura,-T; Yanagisawa,-A; Sakata,-H; Sakata,-K; Shimoyama,-K; Ishihara,-T; Yoshino,-H; Ishikawa,-K
Thallium-201 single photon emission computed tomography (SPECT) in patients with duchenne's progressive muscular dystrophy: a histopathologic correlation study.
Jpn-Circ-J. 2001 Feb; 65(2): 99-105

Ogawa,-M; Kaname,-T; Kimura,-S; Kawasaki,-I; Nomura,-K; Suzuki,-M; Miike,-T; Yamamura,-K
The lacZ gene under the control of the 7 kb of human dystrophin muscle specific promoter is expressed in cardiac muscle but not in adult skeletal muscle in transgenic mice.
Neuromuscul-Disord. 2001 Apr; 11(3): 244-50

O'-Hara-AJ; Howell-JM; Taplin-RH; Fletcher-S; Lloyd-F; Kakulas-B; Lochmuller-H; Karpati-G
The spread of transgene expression at the site of gene construct injection
MUSCLE-AND-NERVE. APR 2001; 24 (4) : 488-495

Onengut,-S; Kavaslar,-G-N; Battaloglu,-E; Serdaroglu,-P; Deymeer,-F; Ozdemir,-C; Calafell,-F; Tolun,-A
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians.
Ann-Hum-Genet. 2000 Jan; 64(Pt 1): 33-40

Partridge-T
The current status of myoblast transfer
NEUROLOGICAL-SCIENCES. 2000; 21 (5) Suppl. S : S939-S942

Pereira,-E-C; Neto,-H-S; Marques,-M-J
Immunolocalisation of neuronal nitric oxide synthase at the neuromuscular junction of MDX mice: a confocal microscopy study.
J-Anat. 2001 Jun; 198(Pt 6): 663-71

Phillips-BA; Mastaglia-FL
Exercise therapy in patients with myopathy
CURRENT-OPINION-IN-NEUROLOGY. OCT 2000; 13 (5) : 547-552

Pilnick-A; Dingwall-R
Research directions in genetic counselling: a review of the literature
PATIENT-EDUCATION-AND-COUNSELING. AUG 2001; 44 (2) : 95-105

Pohle,-R; Fischer,-D; von-Rohden,-L
Computerunterstutzte Gewebedifferenzierung bei der Skelettmuskelsonographie.
Ultraschall-Med. 2000 Dec; 21(6): 245-52

Porter-JD; Merriam-AP; Hack-AA; Andrade-FH; McNally-EM
Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice
NEUROMUSCULAR-DISORDERS. MAR 2001; 11 (2) : 197-207

Pruijs,-J-E; van-Tol,-M-J; van-Kesteren,-R-G; van-Nieuwenhuizen,-O
Neuromuscular scoliosis: clinical evaluation pre- and postoperative.
J-Pediatr-Orthop-B. 2000 Oct; 9(4): 217-20

Quignard-JF; Harricane-MC; Menard-C; Lory-P; Nargeot-J; Capron-L; Mornet-D; Richard-S
Transient down-regulation of L-type Ca2+ channel and dystrophin expression after balloon injury in rat aortic cells
CARDIOVASCULAR-RESEARCH. JAN 2001; 49 (1) : 177-188

Ramsay,-M
Antisense therapy to ameliorate DMD.
Trends-Mol-Med. 2001 Mar; 7(3): 101

Ray-PF; Vekemans-M; Munnich-A
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination
MOLECULAR-HUMAN-REPRODUCTION. MAY 2001; 7 (5) : 489-494

Reiser,-B
Measuring the effectiveness of diagnostic markers in the presence of measurement error through the use of ROC curves.
Stat-Med. 2000 Aug 30; 19(16): 2115-29

Ribaux-P; Bleicher-F; Couble-ML; Amsellem-J; Cohen-SA; Berthier-C; Blaineau-S
Voltage-gated sodium channel (SkM1) content in dystrophin-deficient muscle
PFLUGERS-ARCHIV-EUROPEAN-JOURNAL-OF-PHYSIOLOGY. MAR 2001; 441 (6) : 746-755

Richards,-P; Saywell,-W-R; Heywood,-P
Pseudohypertrophy of the temporalis muscle in Xp21 muscular dystrophy.
Dev-Med-Child-Neurol. 2000 Nov; 42(11): 786-7

Robert,-V; Massimino,-M-L; Tosello,-V; Marsault,-R; Cantini,-M; Sorrentino,-V; Pozzan,-T
Alteration in calcium handling at the subcellular level in mdx myotubes.
J-Biol-Chem. 2001 Feb 16; 276(7): 4647-51

Rodriguez-RA; Sinclair-B; Weatherdon-D; Letts-M
Patent foramen ovale and brain microembolization during scoliosis surgery in adolescents
SPINE-. AUG 1 2001; 26 (15) : 1719-1721

Romero,-N-B; De-Lonlay,-P; Llense,-S; Leturcq,-F; Touati,-G; Urtizberea,-J-A; Saudubray,-J-M; Munnich,-A; Kaplan,-J-C; Recan,-D
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.
Neuromuscul-Disord. 2001 Jul; 11(5): 494-8

Rumbak,-M-J; Walker,-R-M
Should patients with neuromuscular disease be denied the choice of the treatment of mechanical ventilation?
Chest. 2001 Mar; 119(3): 683-4

Saito,-K
[Muscular dystrophy, Duchenne type, Becker type]
Ryoikibetsu-Shokogun-Shirizu. 2001; (34 Pt 2): 228-30

Saito,-K; Kobayashi,-D; Komatsu,-M; Yajima,-T; Yagihashi,-A; Ishikawa,-Y; Minami,-R; Watanabe,-N
A sensitive assay of tumor necrosis factor alpha in sera from Duchenne muscular dystrophy patients.
Clin-Chem. 2000 Oct; 46(10): 1703-4

Saito,-T; Takenaka,-M; Miyai,-I; Yamamoto,-Y; Matsumura,-T; Nozaki,-S; Kang,-J
Coagulation and fibrinolysis disorder in muscular dystrophy.
Muscle-Nerve. 2001 Mar; 24(3): 399-402

Sampaolesi-M; Yoshida-T; Iwata-Y; Hanada-H; Shigekawa-M
Stretch-induced cell damage in sarcoglycan-deficient myotubes
PFLUGERS-ARCHIV-EUROPEAN-JOURNAL-OF-PHYSIOLOGY. MAY 2001; 442 (2) : 161-170

Sander,-M; Chavoshan,-B; Harris,-S-A; Iannaccone,-S-T; Stull,-J-T; Thomas,-G-D; Victor,-R-G
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy.
Proc-Natl-Acad-Sci-U-S-A. 2000 Dec 5; 97(25): 13818-23

Sandri,-M; El-Meslemani,-A-H; Sandri,-C; Schjerling,-P; Vissing,-K; Andersen,-J-L; Rossini,-K; Carraro,-U; Angelini,-C
Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?
J-Neuropathol-Exp-Neurol. 2001 Mar; 60(3): 302-12

Saotome,-M; Yoshitomi,-Y; Kojima,-S; Kuramochi,-M
Dilated cardiomyopathy of Becker-type muscular dystrophy with exon 4 deletion--a case report.
Angiology. 2001 May; 52(5): 343-7

Sarig,-R; Mezger-Lallemand,-V; Leibovitz,-S; Nudel,-U
Increased efficiency of homologous recombination in ES cells by cleavage at both ends of homology in the targeting vector.
Transgenic-Res. 2000 Apr; 9(2): 79-80

Schoser-BGH; Behrends-S
Soluble guanylyl cyclase is localized at the neuromuscular junction in human skeletal muscle
NEUROREPORT-. APR 17 2001; 12 (5) : 979-981

Seiler-G; Welle-M; Busato-A; Lin-S; Gaschen-FP
Mast cell proliferation and alterations in bFGF amount and localization are involved in the response of muscle to dystrophin deficiency in hypertrophic feline dystrophy
NEUROMUSCULAR-DISORDERS. JAN 2001; 11 (1) : 56-71

Selcen-D; Stilling-G; Engel-AG
The earliest pathologic alterations in dysferlinopathy
NEUROLOGY-. JUN 12 2001; 56 (11) : 1472-1481

Serio,-R; Bonvissuto,-F; Mule,-F
Altered electrical activity in colonic smooth muscle cells from dystrophic (mdx) mice.
Neurogastroenterol-Motil. 2001 Apr; 13(2): 169-75

Shaikhly-KI; Hamdan-FB; Al-Ani-FS
Power spectrum analysis and conventional electromyogram in Duchenne muscular dystrophy
SAUDI-MEDICAL-JOURNAL. NOV 2000; 21 (11) : 1038-1042

Shibuya-S; Wakayama-Y; Murahashi-M; Kojima-H; Oniki-H; Matsuzaki-T; Nonaka-I
Muscle plasma membrane changes in dystrophin gene exon 52 knockout mouse
PATHOLOGY-RESEARCH-AND-PRACTICE. 2001; 197 (6) : 441-447

Sironi,-M; Bardoni,-A; Felisari,-G; Cagliani,-R; Robotti,-M; Comi,-G-P; Moggio,-M; Bresolin,-N
Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.
J-Neurol-Sci. 2001 May 1; 186(1-2): 51-7

Sironi,-M; Corti,-S; Locatelli,-F; Cagliani,-R; Comi,-G-P
A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
Hum-Mutat. 2001 Mar; 17(3): 239

Sironi-M; Bardoni-A; Felisari-G; Cagliani-R; Robotti-M; Comi-GP; Moggio-M; Bresolin-N
Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle
JOURNAL-OF-THE-NEUROLOGICAL-SCIENCES. MAY 1 2001; 186 (1-2) : 51-57

Skrabek-RQ; Anderson-JE
Metabolic shifts and myocyte hypertrophy in deflazacort treatment of mdx mouse cardiomyopathy
MUSCLE-AND-NERVE. FEB 2001; 24 (2) : 192-202

Smith,-J; Goldsmith,-C; Ward,-A; LeDieu,-R
IGF-II ameliorates the dystrophic phenotype and coordinately down-regulates programmed cell death.
Cell-Death-Differ. 2000 Nov; 7(11): 1109-18

Smythe-GM; Grounds-MD
Absence of MyoD increases donor myoblast migration into host muscle
EXPERIMENTAL-CELL-RESEARCH. JUL 15 2001; 267 (2) : 267-274

Sotgia-F; Lee-JK; Das-K; Bedford-M; Petrucci-TC; Macioce-P; Sargiacomo-M; Bricarelli-FD; Minetti-C; Sudol-M; Lisanti-MP
Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan - Identification of a central WW-like domain within caveolin family members
JOURNAL-OF-BIOLOGICAL-CHEMISTRY. DEC 1 2000; 275 (48) : 38048-38058

Spencer,-M-J; Marino,-M-W; Winckler,-W-M
Altered pathological progression of diaphragm and quadriceps muscle in TNF-deficient, dystrophin-deficient mice.
Neuromuscul-Disord. 2000 Dec; 10(8): 612-9

Spencer,-M-J; Montecino-Rodriguez,-E; Dorshkind,-K; Tidball,-J-G
Helper (CD4(+)) and cytotoxic (CD8(+)) T cells promote the pathology of dystrophin-deficient muscle.
Clin-Immunol. 2001 Feb; 98(2): 235-43

Spier,-A-W; Meurs,-K-M; Coovert,-D-D; Lehmkuhl,-L-B; O'Grady,-M-R; Freeman,-L-M; Burghes,-A-H; Towbin,-J-A
Use of western immunoblot for evaluation of myocardial dystrophin, alpha-sarcoglycan, and beta-dystroglycan in dogs with idiopathic dilated cardiomyopathy.
Am-J-Vet-Res. 2001 Jan; 62(1): 67-71

Stamler,-J-S; Meissner,-G
Physiology of nitric oxide in skeletal muscle.
Physiol-Rev. 2001 Jan; 81(1): 209-237

Stamler-JS; Meissner-G
Physiology of nitric oxide in skeletal muscle
PHYSIOLOGICAL-REVIEWS. JAN 2001; 81 (1) : 209-237

Sugita-S; Saito-F; Tang-J; Satz-J; Campbell-K; Sudhof-TC
A stoichiometric complex of neurexins and dystroglycan in brain
JOURNAL-OF-CELL-BIOLOGY. JUL 23 2001; 154 (2) : 435-445

Suminaga,-R; Takeshima,-Y; Yasuda,-K; Shiga,-N; Nakamura,-H; Matsuo,-M
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability.
J-Hum-Genet. 2000; 45(6): 331-6

Sweeney-HL; Barton-ER
The dystrophin-associated glycoprotein complex: What parts can you do without?
PROCEEDINGS-OF-THE-NATIONAL-ACADEMY-OF-SCIENCES-OF-THE-UNITED-STATES-OF-AMERICA. DEC 5 2000; 97 (25) : 13464-13466

Takagi,-A
[Malignant hyperthermia of Duchenne muscular dystrophy: application of clinical grading scale and caffeine contracture of skinned muscle fibers]
Rinsho-Shinkeigaku. 2000 May; 40(5): 423-7

Tay,-S-K; Ong,-H-T; Low,-P-S
Transaminitis in Duchenne's muscular dystrophy.
Ann-Acad-Med-Singapore. 2000 Nov; 29(6): 719-22

Thom-JM; Thompson-MW; Ruell-PA; Bryant-GJ; Fonda-JS; Harmer-AR; De-Jonge-XAK; Hunter-SK
Effect of 10-day cast immobilization on sarcoplasmic reticulum calcium regulation in humans
ACTA-PHYSIOLOGICA-SCANDINAVICA. JUN 2001; 172 (2) : 141-147

Tkatchenko,-A-V; Pietu,-G; Cros,-N; Gannoun-Zaki,-L; Auffray,-C; Leger,-J-J; Dechesne,-C-A
Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients.
Neuromuscul-Disord. 2001 Apr; 11(3): 269-77

Torrente,-Y; D'Angelo,-M-G; Li,-Z; Del-Bo,-R; Corti,-S; Mericskay,-M; DeLiso,-A; Fassati,-A; Paulin,-D; Comi,-G-P; Scarlato,-G; Bresolin,-N
Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency.
Hum-Mol-Genet. 2000 Jul 22; 9(12): 1843-52

Torrente-Y; Tremblay-JP; Pisati-F; Belicchi-M; Rossi-B; Sironi-M; Fortunato-F; El-Fahime-M; D'-Angelo-MG; Caron-NJ; Constantin-G; Paulin-D; Scarlato-G; Bresolin-N
Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice
JOURNAL-OF-CELL-BIOLOGY. JAN 22 2001; 152 (2) : 335-348

Ueda,-H; Baba,-T; Ohno,-S
Current knowledge of dystrophin and dystrophin-associated proteins in the retina.
Histol-Histopathol. 2000 Jul; 15(3): 753-60

Vandebrouck,-C; Duport,-G; Cognard,-C; Raymond,-G
Cationic channels in normal and dystrophic human myotubes.
Neuromuscul-Disord. 2001 Jan; 11(1): 72-9

van-Deutekom-JCT; Bremmer-Bout-M; Janson-AAM; Ginjaar-IB; Baas-F; den-Dunnen-JT; van-Ommen-GJB
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
HUMAN-MOLECULAR-GENETICS. JUL 15 2001; 10 (15) : 1547-1554

Van-Epps-HA; Yim-CM; Hurley-JB; Brockerhoff-SE
Investigations of photoreceptor synaptic transmission and light adaptation in the zebrafish visual mutant nrc
INVESTIGATIVE-OPHTHALMOLOGY-AND-VISUAL-SCIENCE. MAR 2001; 42 (3) : 868-874

Vannucchi,-M-G; Corsani,-L; Giovannini,-M-G; Faussone-Pellegrini,-M-S
Expression of dystrophin in the mouse myenteric neurones.
Neurosci-Lett. 2001 Mar 9; 300(2): 120-4

Vestergaard-P; Glerup-H; Steffensen-BF; Rejnmark-L; Rahbek-J; Mosekilde-L
Fracture risk in patients with muscular dystrophy and spinal muscular atrophy
JOURNAL-OF-REHABILITATION-MEDICINE. JUL 2001; 33 (4) : 150-155

Vita,-G; Di-Leo,-R; De-Gregorio,-C; Papalia,-A; Rodolico,-C; Coglitore,-S; Messina,-C
Cardiovascular autonomic control in Becker muscular dystrophy.
J-Neurol-Sci. 2001 May 1; 186(1-2): 45-9

Wagner,-K-R; Hamed,-S; Hadley,-D-W; Gropman,-A-L; Burstein,-A-H; Escolar,-D-M; Hoffman,-E-P; Fischbeck,-K-H
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.
Ann-Neurol. 2001 Jun; 49(6): 706-11

Wang,-B; Li,-J; Xiao,-X
Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model.
Proc-Natl-Acad-Sci-U-S-A. 2000 Dec 5; 97(25): 13714-9

Wang,-M; Jin,-C; Lin,-C; Wang,-Y; Wu,-Y; Sun,-K
[Non-invasive prenatal diagnosis of Duchenne muscular dystrophy]
Zhonghua-Yi-Xue-Yi-Chuan-Xue-Za-Zhi. 2001 Apr; 18(2): 139-42

Waters-JJ; Campbell-PL; Crocker-AJM; Campbell-CM
Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories
HUMAN-GENETICS. APR 2001; 108 (4) : 318-327

Wu-XX; Blanck-A; Olovsson-M; Moller-B; Lindblom-B
Expression of basic fibroblast growth factor (bFGF), FGF receptor 1 and FGF receptor 2 in uterine leiomyomas and myometrium during the menstrual cycle, after menopause and GnRHa treatment
ACTA-OBSTETRICIA-ET-GYNECOLOGICA-SCANDINAVICA. JUN 2001; 80 (6) : 497-504

Yamashita,-T; Kanaya,-K; Kawaguchi,-S; Murakami,-T; Yokogushi,-K
Prediction of progression of spinal deformity in Duchenne muscular dystrophy: a preliminary report.
Spine. 2001 Jun 1; 26(11): E223-6

Yamashita,-T; Kanaya,-K; Yokogushi,-K; Ishikawa,-Y; Minami,-R
Correlation between progression of spinal deformity and pulmonary function in Duchenne muscular dystrophy.
J-Pediatr-Orthop. 2001 Jan-Feb; 21(1): 113-6

Yamashita-T; Kanaya-K; Yokogushi-K; Ishikawa-Y; Minami-R
Correlation between progression of spinal deformity and pulmonary function in Duchenne muscular dystrophy
JOURNAL-OF-PEDIATRIC-ORTHOPAEDICS. JAN-FEB 2001; 21 (1) : 113-116

Yasuma,-F; Kato,-T; Matsuoka,-Y; Konagaya,-M
Row-a-boat phenomenon: respiratory compensation in advanced Duchenne muscular dystrophy.
Chest. 2001 Jun; 119(6): 1836-9

Yokoyama-T; Huard-J; Pruchnic-R; Yoshimura-N; Qu-ZQ; Cao-BH; de-Groat-WC; Kumon-H; Chancellor-MB
Muscle-derived cell transplantation and differentiation into lower urinary tract smooth muscle
UROLOGY-. APR 2001; 57 (4) : 826-831

Zaccaria,-M-L; Di-Tommaso,-F; Brancaccio,-A; Paggi,-P; Petrucci,-T-C
Dystroglycan distribution in adult mouse brain: a light and electron microscopy study.
Neuroscience. 2001; 104(2): 311-24

Zaccaria-ML; Perrone-Capano-C; Melucci-Vigo-G; Gaeta-L; Petrucci-TC; Paggi-P
Differential regulation of transcripts for dystrophin isoforms, dystroglycan, and alpha 3AChR subunit in mouse sympathetic ganglia following postganglionic nerve crush
NEUROBIOLOGY-OF-DISEASE. JUN 2001; 8 (3) : 513-524

Zhuang-WY; Eby-JC; Cheong-M; Mohapatra-PK; Bredt-DS; Disatnik-MH; Rando-TA
The susceptibility of muscle cells to oxidative stress is independent of nitric oxide synthase expression
MUSCLE-AND-NERVE. APR 2001; 24 (4) : 502-511

Zoltick-PW; Chirmule-N; Schnell-MA; Gao-GP; Hughes-JV; Wilson-JM
Biology of E1-deleted adenovirus vectors in nonhuman primate muscle
JOURNAL-OF-VIROLOGY. JUN 2001; 75 (11) : 5222-5229