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
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014
Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
Autism
Lancet 374:1627-1638, Levy,S.,et al, 2009
Decoding Cryptogenic Cardioembolism
Ann Neurol 64:364-365, Meschia,J.F., 2008
A Genetic Risk Factor for Periodic Limb Movements in Sleep
NEJM 357:639-647, Stefansson,H.,et al, 2007
Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
Neurol 69:2093-2104, Klein,C. &Schlossmacher,M.G., 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
Stroke 35:1790-1794, Cantu,C.,et al, 2004
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Case-Control Study of Risk Factors of Creutzfeldt-Jacob Disease in Europe During 1993-95
Lancet 351:1081-1085, Van Duijn,C.M.,et al, 1998
Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998
Genetic Testing for Alzheimer Disease, Practical and Ethical Issues
Arch Neurol 54:1226-1229, Roses,A.D., 1997
Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
JAMA 278:1237-1241, 12821997., Pericak-Vance,M.A.,et al, 1997
Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996
Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
Ann Neurol 38:355-356, Duvoisin,R.C.&Golbe,L.I., 1995
A Greek-American Kindred with Autosomal Dominant, Levodopa-Responsive Parkinsonism and Anticipation
Ann Neurol 38:373-378, 3551995., Markopoulou,K.,et al, 1995
The British Isles Survey of Multiple Sclerosis in Twins
Neurol 44:11-15, Mumford,C.J.,et al, 1994
Increased Risk of Alzheimer's Disease in Mothers of Adults with Down's Syndrome
Lancet 344:353-356, Schupf,N.,et al, 1994
Increased Risk of Parkinson's Disease in Parents and Siblings of Patients
Ann Neurol 36:659-661, Payami,H.,et al, 1994
Identical Twins with Similar Onset of Parkinson's Disease:A Case Report
Neurol 43:1159-1161, Pahwa,R.,et al, 1993
DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
Risk Factors for Multiple Sclerosis:Race or Place? Editorial
JNNP 53:821-823, 903, 906990., Compston,A., 1990
Familial Hyperlipidemia in Stroke in the Young
Stroke 17:1142-1145, Bansal,B.C.,et al, 1986
Specific Laboratory Test for Diagnosis of MS
BMJ 1:412, Field,E.J.,et al, 1974
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
Neurol 97:e577-e586, Accogli, A.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007