Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
Ann Neurol 51:129-133, Ho,M.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
Neurol 41:1491-1496, Arikawa,E.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Hopkins Syndrome
Neurol 94:e996-e997, Sgobbi de Souza, P. V.,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
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Inflammatory Muscle Diseases
NEJM 372:1734-1747, Dalakas, M.C., 2015
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007
Neuralgic Amyotrophy, Diagnosed With Magnetic Resonance Neurography in Acute Stage: A Case Report and Review of the Literature
The Neurologist 13:219-221, Duman,I.,et al, 2007
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
X-Linked Emery-Dreifuss Muscular Dystrophy Can Be Diagnosed from Skin Biopsy or Blood Sample
Ann Neurol 42:249-253, Mora,M.,et al, 1997
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
Prenatal Diagnosis of Duchenne Muscular Dystrophy Using a Single Fetal Nucleated Erythrocyte in Maternal Blood
Neurol 46:1350-1353, Sekizawa,A.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,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
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
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
Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992
Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Chronic Limb-Girdle Myasthenia Gravis
Neurol 42:1153-1156, Oh,S.J.&Kuruoglu,R., 1992
Prognosis in AZT Myopathy
Neurol 41:1181-1184, Chalmers,A.C.,et al, 1991