Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
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
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Association of Parental Dementia With Cognitive and Brain MRI Measures in Middle-Aged Adults
Neurol 73:2071-2078, 2054, Debette,S.,et al, 2009
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Familial Temporal Lobe Epilepsy with Febrile Seizures
Neurol 58:1429-1433, Depondt,C.,et al, 2002
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,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
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Serial Magnetic Resonance Imaging of Cerebral Atrophy in Preclinical Alzheimer's Disease
Lancet 353:2125, Fox,N.C.,et al, 1999
Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998
Familial Aggregation in Frontotemporal Dementia
Neurol 50:1541-1545, Stevens,M.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Frontotemporal Dementia is on the MAP
Ann Neurol 41:139-140, Wilhelmsen,K.C., 1997
Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Familial Temporal Lobe Epilepsy:A Common Disorder Identified in Twins
Ann Neurol 40:227-235, Berkovic,S.F.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Panic Attacks and Panic Disorder:The Great Neurologic Imposters
Semin Neurol 15:126-132, Stahl,S.M.&Soefje,S., 1995
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
Tibial Muscular Dystrophy
Arch Neurol 50:604-608, Udd,B.,et al, 1993
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992