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Showing articles 0 to 41 of 41

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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012

Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
Neurol 73:16-24,11, Wills,A.-M.,et al, 2009

The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009

Genetics of Familial Amyotrophic Lateral Sclerosis
Neurol 70:144-152, Valdmanis,P.N. &Rouleau,G.A., 2008

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001

Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
JAMA 284:1664-1669, Hosler,B.A.,et al, 2000

N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 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

Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996

Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

Familial Alzheimer's Disease
Ann Neurol 36:335-336, Bird,T.D., 1994

Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994

Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994

Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993

Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Brain Tumors
NEJM 324:1471-1476, 1555-15641991., Black,P.McL., 1991

Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
Neurol 41:1651-1655, Durner,M.,et al, 1991

Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990

Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990

Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990

Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989



Showing articles 0 to 41 of 41