Hereditary Benign Chorea
Neurol 57:106-110, Fernandez,M.,et al, 2001
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Fits and Strokes
Lancet 358:120, Sharma,P.,et al, 2001
Increased Plasma Methylmalonic Acid Level Does Not Predict Clinical Manifestations of Vitamin B12 Deficiency
Arch Int Med 161:1534-1541, Hvas,A.,et al, 2001
Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Complete Genomic Screen in Parkinson Disease
JAMA 286:2239-2244, Scott,W.K.,et al, 2001
Adult-Onset Leukoencephalopathy with Vanishing White Matter Presenting with Dementia
Ann Neurol 50:665-668, Prass,K.,et al, 2001
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 2000
A Locus for Paroxysmal Kinesigenic Dyskinesia Maps to Human Chromosome 16
Neurol 54:125-130, Bennett,L.B.,et al, 2000
The Brain Code in Health and Disease
Arch Neurol 57:50-51, Rosenberg,R.N., 2000
Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
MR Findings in Subacute Combined Degeneration of the Spinal Cord: A Case of Reversible Cervical Myelopathy
AJR 174:863-865, Ravina,B.,et al, 2000
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Nitrous Oxide Anesthesia-Associated Myelopathy
ArchNeurol 57:380-382, Marie,R.,et al, 2000
Shaky-Leg Syndrome and Vitamin B12 Deficiency
NEJM 342:981, Benito-Leon,J.&Porta-Etessam,J., 2000
Blindness in a Strict Vegan
NEJM 342:897-898, Milea,D.,et al, 2000
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
Arch Neurol 57:662-665, Hyman,M.H.&Whittemore,V.H., 2000
Helicobacter pylori -- Is It a Novel Causative Agent in Vitamin B12 Deficiency?
Arch Int Med 160:1349-1353,1229, Kaptan,K.,et al, 2000
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000
Helicobacter pylori--Is it a Novel Causative Agent in Vitamin B12 Deficiency?
Arch Int Med 160:1349-1353, 1229, Kaptan,K. et al, 2000
Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000
Acute Neurologic Decompensation in an Infant With Cobalamin Deficiency Exposed to Nitrous Oxide
J Pediatr 137:427-428, Felmet,K. et al, 2000
Multiple Sclerosis
NEJM 343:938-952, Noseworthy,J.H. et al, 2000
Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
JAMA 284:1664-1669, Hosler,B.A.,et al, 2000
Conjugal Multiple Sclerosis: Population-Based Prevalence and Recurrence Risks in Offspring
Ann Neurol 48:927-931, Evers,G.C.,et al, 2000
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
Spastic Paraparesis after Anaesthesia
Lancet 353:554, Lee,P.,et al, 1999
Treatment of Attention-Deficit-Hyperactivity Disorder
NEJM 340:780-788, Elia,J.,et al, 1999
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 1999
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
Arch Neurol 56:721-726, Matsuo,H.,et al, 1999
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999
Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999
Importance of Dural Ectasia in Phenotypic Assessment of Marfan's Syndrome
Lancet 354:910-913, 878, Fattori,R.,et al, 1999
Clinical and MRI Findings in Spinocerebellar Ataxia Type 5
Neurol 53:1355-1357, Stevanin,G.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
The Roussy-Levy Family:From the Original Description to the Gene
Ann Neurol 46:770-773, Plante-Bordeneuve,V.,et al, 1999
Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999
Ion Channel Diseases:Episodic Disorders of the Nervous System
Semin Neurol 19:363-369, Ptacek,L.J., 1999