Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Polymyositis Masquerading as Motor Neuron Disease
Arch Neurol 60:1001-1003, Ryan,A.,et al, 2003
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
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
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
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996
Inclusion Body Myositis
JNNP 60:251-255, Garlepp,M.J.&Mastaglia,F.L., 1996
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996
Inclusion Body Myositis:Clinical and Pathological Boundaries
Ann Neurol 40:581-586, Amato,A.A.,et al, 1996
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Chronic Limb-Girdle Myasthenia Gravis
Neurol 42:1153-1156, Oh,S.J.&Kuruoglu,R., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021
Anti-cN1A Antibodies are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis
Cells 10:1146, Lucchini,M.,et al, 2021
Hopkins Syndrome
Neurol 94:e996-e997, Sgobbi de Souza, P. V.,et al, 2020
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
Vessel Wall MR Imaging for the Detection of Intracranial Inflammatory Vasculopathies
Cardiovasc Diagn Ther 10:1108-1119, Edjlali,M.,et al, 2020
Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Diagnosis and Management of Active Intracranial Atherosclerotic Disease
Stroke 49:e221-e223, Narwal, P.,et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
Lancet: 389:538-546,483, Griffiths, P.D.,et al, 2017
Patient with Severe Moyamoya Disease Who Presents with Acute Cortical Blindness
Stroke 48:e126-e129, Sajja, A.,et al, 2017
Clinicopathologic Conference, Probable Acute Leptospirosis
NEJM 377:268-278, Case 22-2017, 2017
Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Mills Syndrome
Neurol 87:e54, Porto, F.H.G.,et al, 2016
Inflammatory Muscle Diseases
NEJM 372:1734-1747, Dalakas, M.C., 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
ICU-Acquired Weakness and Recovery from Critical Illness
NEJM 370:1626-1635, Kress, J.P. & Hall, J.B., 2014
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Giant-Cell Arteritis and Polymyalgia Rheumatica
NEJM 371:50-57, Weyand, C.M. & Goronzy J.J., 2014
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014