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children
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potassium channel dysfunction
PRKN gene
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review article
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spinocerebellar ataxia type 1
spinocerebellar ataxia type 2
spinocerebellar ataxia type 3/Machado Joseph disease
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spinocerebellar ataxia type 7
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trinucleotide repeats
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Showing articles 550 to 600 of 1369 << Previous Next >>

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

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

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

Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997

Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
Neurol 49:1598-1604, Brandmann,O.,et al, 1997

Coma From Long-Term Overingestion of Isoniazid
Arch Int Med 157:2518-2520, Salkind,A.R.&Hewitt,C.C., 1997

A News Locus for Hemiplegic Migraine Maps to Chromosome 1q31
Neurol 49:1231-1238, 11931997., Gardner,K.,et al, 1997

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

Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997

Chromosome 19 Single-Locus & Multilocus Haplotype Assoc with MS, Evid of New Suscept Locus in Caucasian & Chinese Pts
JAMA 278:1256-1262, 12821997., Barcellos,L.F.,et al, 1997

Clinical and Molecular Features of Spinocerebellar Ataxia Type 6
Neurol 49:1243-1246, 11961997., Stevanin,G.,et al, 1997

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997

The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
JAMA 278:51-57, Gutmann,D.H.,et al, 1997

Endolymphatic Sac Tumors, A Source of Morbid Hearing Loss in von Hippel-Lindau Disease
JAMA 277:1461-1466, Manski,T.J.,et al, 1997

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Unusual Clinical Features and Early Brain MRI Lesions in a Family with Cerebral Autosomal Dominant Arteriopathy
Neurol 48:1200-1203, Malandrini,A.,et al, 1997

Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
Ann Neurol 42:265-269, Priller,J.,et al, 1997

Clinical Characteristics of a Chromosome 17-Linked Rapidly Progressive Familial Frontotemporal Dementia
Arch Neurol 54:539-544, Basun,H.,et al, 1997

Apolipoprotein E e4 Associated with Chronic Traumatic Brain Injury in Boxing
JAMA 278:136-140, Jordan,B.D.,et al, 1997

Comparison of First Degree Relatives and Spouses of Poeple with Chronic Tension Headache
BMJ 314:1092-1093, Ostergaard,S.,et al, 1997

Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
Ann Neurol 41:548-551, Argov,Z.,et al, 1997

Primary Adhalinopathy (x-Sarcoglycanopathy) :Clin, Path & Genetic Correl in 20 Pts with Autosomal Recessive Muscular Dystrophy
Neurol 48:1227-1234, Eymard,B.,et al, 1997

Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997

Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997

Acute Intermittent Porphyria:Clinicopathologic Correlation
Neurol 48:1678-1683, Suarez,J.I.,et al, 1997

A Gene for Parkinson Disease
Arch Neurol 54:1156-1157, Chase,T.N., 1997

The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997

The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
Neurol 49:1009-1013, Lorenzetti,D.,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

Familial episodic Ataxia:Clinical Heterogeneity in Four Families Linked to Chromosome 19p
Ann Neurol 41:8-16, 41997., Baloh,R.W.,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

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



Showing articles 550 to 600 of 1369 << Previous Next >>