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
De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,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
A Randomized Trial of 3,4-Diaminopyridine in Lambert-Eaton Myasthenic Syndrome
Neurol 54:603-607, Sanders,D.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
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 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
Diagnosis of New Variant Creutzfeldt-Jakob Disease
Ann Neurol 47:575-582, Will,R.G.,et al, 2000
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. 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
14-3-3 Testing in Diagnosing Creutzfeldt-Jakob Disease
Neurol 55:514-516, Lemstra,A.W. et al, 2000
Current Clinical Diagnosis in Creutzfeldt-Jakob Disease; Identification of Uncommon Variants
Ann Neurol 48:323-329, Zerr,I. et al, 2000
Multiple Sclerosis
NEJM 343:938-952, Noseworthy,J.H. et al, 2000
Analysis of EEG and CSF 14-3-3 proteins as adis to the diagnosis of Creutzfeldt-Jakob Disease
Neurol 55:811-815, Zerr,I. et al, 2000
Misleading Results With the 14-3-3 Assay for the Diagnosis of Creutzfeldt-Jakob Disease
Neurol 55:1396-1397, Chapman,T.,et al, 2000
Dementia with Lewy Bodies in a Neuropathologic Series of Suspected Creutzfeldt-Jakob Disease
Neurol 55:1401-1404, Haik,S.,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
Microscopic Polyangiitis: Clinical and Laboratory Findings in Eighty-five Patients
Arthritis Rheum 42:421--430, Guillevin, L.,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
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999
A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
Ann Neurol 46:671-678, Peiffer,A.,et al, 1999
Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
Ann Neurol 46:794-798, Nygaard,T.G.,et al, 1999
Genetic Localization of the Familial Adult Myoclonic Epilepsy (FAME) Gene to Chromosome 8q24
Neurol 53:1180-1183, Plaster,N.M.,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
Clinicopath Conf,Wegener's Granulomatosis with Pachymeningeal Granulomatous Inflammation, Case 9-1999
NEJM 340:945-953, , 1999
Churg-Strauss Syndrome, Clinical Study and Long-Term Follow-Up of 96 Patients
Medicine 78:26-37, Guillevin,L.,et al, 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
Difficult Asthma or Churg-Strauss Syndrome? Steroids May be Masking Undiagnosed Cases of Churg-Strauss Syndrome
BMJ 318:475-476, D'Cruz,D.P.,et al, 1999