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cardiomyopathy
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muscular dystrophy, limb-girdle
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neck weakness
next-generation sequencing
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weakness, progressive
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Showing articles 700 to 750 of 1641 << Previous Next >>

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 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

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

Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998

Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998

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

Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997

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

Transmissible Spongiform Encephalopathies
NEJM 337:1821-1828, Haywood,A.M., 1997

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

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

X-Linked Vacuolated Myopathy:Membrane Attack Complex Depos on Muscle Fiber Membr with Calcium Accumul on Sarcolemma
Ann Neurol 41:117-120, Louboutin,J.P.,et al, 1997

Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
Neurol 48:55-57, Juneja,T.,et al, 1997

Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,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

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

Olfactory Dysfunction in Familial Parkinsonism
Neurol 49:1262-1267, Markopoulou,K.,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

Familial Intracranial Aneurysms
Lancet 349:380-384, Ronkainen,A.,et al, 1997

Exploring the Etiology of Alzheimer Disease Using Molecular Genetics
JAMA 277:825-831, Lendon,C.L.,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

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

Familial Acephalgic Migraines
Neurol 48:776-777, Shevell,M.I., 1997

CT and MR Findings of Neuroacanthocytosis
J Comput Assist Tomogr 21:221-222, Okamoto,K.,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

Offspring Recurrence Rates and Clinical Characteristics of Conjugal Multiple Sclerosis
Lancet 349:1587-1590, Robertson,N.P.,et al, 1997

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

The Risk of Bovine Spongiform Encephalopathy ('Mad Cow Disease') to Human Health
JAMA 278:1008-1011, Brown,P., 1997

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



Showing articles 700 to 750 of 1641 << Previous Next >>