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Filter Applied: muscular dystrophy (Click to remove)

Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997

The Muscular Dystrophies-Clarity or Chaos
NEJM 336 650-651, Dubowitz,V., 1997

Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996

Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,et al, 1996

Primary Adhalin Deficiency as a Cause of Muscular Dystrophy in Patients with Normal Dystrophin
Ann Neurol 38:367-372, 3531995., Ljunggren,A.,et al, 1995

"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010

Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996

Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996

Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996

Distal WEakness in Dystrophin-Deficient Muscular Dystrophy
Muscle & Nerve 19:1608-1610996., Felice,K.J., 1996

Deficiency of Brain Synaptic Dystrophin in Human Duchenne Muscular Dystrophy
Ann Neurol 38:446-449, Kim,T.W.,et al, 1995

Myoblast Transfer in the Tratment of Duchenne's Muscular Dystrophy
NEJM 333:832-838, 8711995., Mendell,J.R.,et al, 1995

Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994

Abnormal Expression of Dystrophin-Associated Proteins in Fukuyama-Type Congenital Muscular Dystrophy
Lancet 341:521-522, Matsumura,K.,et al, 1993

Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
NEJM 329:915-920, Sancho,S.,et al, 1993

Duchenne Muscular Dystrophy:Deficiency of Dystrophin-Associated Proteins in the Sarcolemma
Neurol 43:795-800, Ohlendieck,K.,et al, 1993

Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993

Cardiomyopathy May Be the Only Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy
Neurol 43:2342-2345, Mirabella,M.,et al, 1993

ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992

Dystrophinopathy in Isolated Cases of Myopathy in Females
Neurol 42:967-975, Hoffman,E.P.,et al, 1992

Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992

The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
Neurol 41:1491-1496, Arikawa,E.,et al, 1991

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

Quadriceps Myopathy:Forme Fruste of Becker Muscular Dystrophy
Ann Neurol 28:634-639, Sunohara,N.,et al, 1990

Dystrophin Analysis in Duchenne & Becker Muscular Dystrophy Carriers:Correl with Intracellular Calcium & Albumin
Ann Neurol 28:674-679, Morandi,L.,et al, 1990

Direct Diagnosis of Carriers of Duchenne & Becker Muscular Dystrophy by Amplification of Lymphocyte RNA
Roberts. R. G. , et al, Lancet 336:1523-1526., , 1990

Mosaic Expression of Dystrophic in Symptomatic Carriers of Duchenne's Muscular Dystrophy
NEJM 320:138-142, Arahata,K.,et al, 1989

Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989

Genetic Abnormalities in Duchenne and Becker Dystrophies:Clinical Correlations
Neurol 39:461-465, 584-5851989., Medori,R.,et al, 1989

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

Improved Diagnosis of Becker Muscular Dystrophy by Dystrophin Testing
Neurol 39:1011-1017, Hoffman,E.P.,et al, 1989

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989

Characterization of Dystrophin in Muscle-Biopsy Spec from Pts with Duchenne's or Becker's Muscular Dystrophy
NEJM 318:1363-1368, 13921988., Hoffman,E.P.,et al, 1988

Dystrophin
Editorial, Lancet 2:429-4301988., , 1988

Gastric Hypomotility in Duchenne's Muscular Dystrophy
NEJM 319:15-18, Barohn,R.J.,et al, 1988

Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020

Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018

Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study
Lancet 391:451-461, McDonald, C.M.,et al, 2018

Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018



Showing articles 0 to 50 of 217 Next >>