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Differential
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ataxia
ataxia, cerebellar
ataxic-dystonia syndromes
cataracts
cerebellar hypoplasia
chromosomal abnormality
chromosome 28
clinodactyly
congenital malformation
corpus callosum, hypoplastic
digits, abnormal
dysarthria
dystonia
ear, abnormal
exome sequencing
genetic neurologic disorders
genetic testing
heterotopia
imbalance
mental retardation
MRI
MRI, abnormal
neuronal migration disorder
neuroophthalmology
ocular motility, disorders of
paroxysmal nonkinesigenic dyskinesia
progressive neurologic disorder
seizure
spinocerebellar ataxia
spinocerebellar ataxia type 28
spinocerebellar degeneration
syndactyly
tremor
walking, difficulty with
x-linked mental retardation
Showing articles 500 to 550 of 1324 << Previous Next >>

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

Linkage of Proximal Myotonic Myopathy to Chromosome 3q
Neurol 52:170-171,12, Ricker,K.,et al, 1999

Parkinson Disease in Twins,An Etiologic Study
JAMA 281:341-346,376, Tanner,C.M.,et al, 1999

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

Is There a Familial Carpal Tunnel Syndrome? An Evaluation and Literature Review
Muscle & Nerve 21:1533-1536, Gossett,J.G.&Change,P.F., 1998

Hereditary Cerebral Cavernous Angiomas:Clinical and Genetic Features in 57 French Families
Lancet 352:1892-1897, Labauge,P.,et al, 1998

Inherited Prothrombotic States and Ischaemic Stroke in Childhood
JNNP 65:508-511, Ganesan,V.,et al, 1998

The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998

Factor V Leiden Mutation is a Risk Factor for Cerebral Venous Thrombosis,A Case-Control Study of 55 Patients
Stroke 29:2507-2510, Ludemann,P.,et al, 1998

Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998

Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998

The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
Arch Neurol 55:1287-1290, Evans,G.A., 1998

The Genetics of Alzheimer Disease, Current Status and Future Prospects
Arch Neurol 55:294-296, Blacker,D.&Tanzi,R.E., 1998

Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998

Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24
Ann Neurol 43:143-148, Flanigan,K.M.,et al, 1998

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

Neuroradiologic Findings in Marinesco-Sjogren Syndrome
AJNR 19:281-283, Georgy,B.A.,et al, 1998

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Tourette Syndrome:Update and Review of the Literature
The Neurologist 4:188-195, Feigin,A.&Clarke,H., 1998

Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998

Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
JAMA 280:619-622, 6521998., Wu,W.S.,et al, 1998

Evidence for an Alzheimer Disease Susceptability Locus on Chromosome 12 and for Further Locus Heterogeneity
JAMA 280:614-618, 6521998., Rogaeva,E.,et al, 1998

Familial Aggregation in Frontotemporal Dementia
Neurol 50:1541-1545, Stevens,M.,et al, 1998

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

Inclusion Body Myositis in Twins
Neurol 51:598-600, Amato,A.A.&Shebert,R.T., 1998

Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998

Facial Nerve is Liable to Pressure Palsy
Neurol 51:320-322, Foloni,T.E.,et al, 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998

Epilepsies in Twins:Genetics of the Major Epilepsy Syndromes
Ann Neurol 43:435-445, Berovic,S.F.,et al, 1998

Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998

CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998

Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
Epilepsia 39:942-951, Canevini,M.P.,et al, 1998

Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998

Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,et al, 1998

Progressive Atrophy of Cerebellum & Brainstem, Age & Size of Expanded CAG Repeats in the MJDI Gene in Machado-Joseph Dis
Ann Neurol 43:288-296, Onokera,O.,et al, 1998

Broadened Friedreich's Ataxia Phenotype after Gene Cloning, Minimal GAA Expan Causes Late Spastic Ataxia
Neurol 49:1617-1620, Ragno,M.,et al, 1997

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

Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997

The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997

Clin Features of Early-Onset Alzheimer Disease in Large Kindred with an E280A Presenilin-1 Mutation
JAMA 277:793-799, Lopera,F.,et al, 1997

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

Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997

Linkiage of Locus for Cerebral Cavernous Hemagiomas to Chromosome 7q in 4 Families of Mexican-American Descent
Neurol 48:752-757, Polymeropoulos,M.H.,et al, 1997

Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997

Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997



Showing articles 500 to 550 of 1324 << Previous Next >>