Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
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
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021
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
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Mills Syndrome
Neurol 87:e54, Porto, F.H.G.,et al, 2016
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
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
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
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 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
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 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
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Polymyositis Masquerading as Motor Neuron Disease
Arch Neurol 60:1001-1003, Ryan,A.,et al, 2003
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Mimic Syndromes in Sporadic Cases of Progressive Spinal Muscular Atrophy
Neurol 58:1593-1596, Visser,J.,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
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Inclusiong Body Myositis Mimicking Motor Neuron Disease
Arch Neurol 58:1253-1256, Dabby,R.,et al, 2001
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000
Toward Earlier Diagnosis of Amyotrophic Lateral Sclerosis, Revised Criteria
Neurol 50:768-772, Ross,M.A.,et al, 1998
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
ALS Standard of Care Consensus
Neurol 48 (Suppl 4) :S33-S37997., Miller,R.G.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
ALS & Severe Cervical Spondylotic Myelopathy in Pt with a Posterior Fossa Archnoid Cyst:Diag Dilemma
South Medical J 80:1580-1583, Lee,S.K.&Kelly,D.L., 1997
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 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
Avoiding False Positive Diagnoses of Motor Neuron Disease:Lessons from the Scottish Motor Neuron Disease Register
JNNP 60:147-151, Davenport,R.J.,et al, 1996
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996