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A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Arsenic
Adams & Victors Principles of Neurology Chp 43, pg 1222, Ropper, A.H.,et al, 2014

Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009

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

A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,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

Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Acute Neuromuscular Respiratory Paralysis
JNNP 56:334-343, Hughes,R.A.C.&Bihari,D., 1993

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985

Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024

Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., et al, 2024

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

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

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

Autoimmune Encephalitis Related to Cancer Treatment with Immune Checkpoint Inhibitors
Neurol 97:e191-e202, Nersesjan, V.,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

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

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,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

Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 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

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

Inflammatory Muscle Diseases
NEJM 372:1734-1747, Dalakas, M.C., 2015

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,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

The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013

Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
Neurol 78: e126, Shah, S.,et al, 2012

Primary Central Nervous System T-Cell Lymphoma of the Brain
Open Neurosurg J 4:62-65, Behbahami, M. & Lyons, M., 2011

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009

Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009

Polymyalgia Rheumatica
BMJ 336:765-769, Michet,C.J. &Matteson,E.L., 2008



Showing articles 0 to 50 of 128 Next >>