Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,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
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
Cancer Risk Among Patients with Myotonic Muscular Dystrophy
JAMA 306:2480-2486, Gadalla, S.M.,et al, 2011
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy
Arch Neurol 65:1196-1201, Sveen,M.-L.,et al., 2008
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Signs and Symptoms of Duchenne Muscular Dystrophny and Becker Muscular Dystrophy Among Carriers in the Netherlands: A Cohort Study
Lancet 353:2116-2119, Hoogerwaard,E.M.,et al, 1999
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,et al, 1998
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,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:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,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
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Distal WEakness in Dystrophin-Deficient Muscular Dystrophy
Muscle & Nerve 19:1608-1610996., Felice,K.J., 1996
Evaluation of the Cardiomyopathy in Becker Muscular Dystrophy
Muscle & Nerve 18:283-291995., Nigro,G.,et al, 1995
Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995
Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
JAMA 274:813-819, Tokgozoglu,L.S.,et al, 1995
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
Becker Muscular Dystrophy with Onset after 60 Years
Neurol 44:2388-2390, Heald,A.,et al, 1994
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992
The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992
Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992
Upper Gastrointestinal Tract Motility in Children with Progressive Muscular Dystrophy
J Pediatr 121:720-724, Staiano,A.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991
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
Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
Duchenne Muscular Dystrophy:Patterns of Clinical Progression and Effects of Supportive Therapy
Neurol 39:475-481, Brooke,M.H.,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