The Prevention of Neurogenetic Disease
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Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995
Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995
Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995
Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
Ann Neurol 38:355-356, Duvoisin,R.C.&Golbe,L.I., 1995
A Greek-American Kindred with Autosomal Dominant, Levodopa-Responsive Parkinsonism and Anticipation
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995
X-Linked Pure Familial Spastic Paraparesis
Arch Neurol 52:665-669, Cambi,F.,et al, 1995
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Clinical Significance of Fetal Choroid Plexus Cysts
Lancet 346:724-729, Gupta,J.K.,et al, 1995
Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995
Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
Ann Neurol 38:929-934, Bromberg,J.E.C.,et al, 1995
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
JNNP 59:579-585, Verin,M.,et al, 1995
Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995
The Nondystrophic Myotonias
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Progressive Multifocal Leukoencephalopathy Complicating Wiskott-Aldrich Syndrome
Arch Neurol 51:422-426, Katz,D.A.,et al, 1994
Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
Stroke 25:1696-1698, Bowler,J.V.&Hachinski,V., 1994
The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994
Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994
Increased Risk of Alzheimer's Disease in Mothers of Adults with Down's Syndrome
Lancet 344:353-356, Schupf,N.,et al, 1994
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
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994
Mononeuritis Multiplex and Vasculitis:Association with Anti-Neutrophil Cytoplasmic Autoantibody
Arch Neurol 51:565-568, Kafka,S.P.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994
MR Findings in Seven Patients with Organic Mercury Poisoning (Minamata Disease)
AJNR 15:1575-1578, Korogi,Y.,et al, 1994
Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
neurol 44:1083-1086, Lasser,D.M.,et al, 1994
A Sproadic Form of Hereditary Neuropathy with Liability to Pressure Palsies:Clin, Electrodiag & Molecular Genetic Findings
Neurol 44:753-755, Reisecker,F.,et al, 1994
Reduced Basal Ganglia Volume Associated with the Gene for Huntington's Disease in Asymptomatic at-Risk Persons
Neurol 44:823-828, Aylward,E.H.,et al, 1994
Superoxide Dismutase and ALS
Lancet 344:1651-1652, Orrell,R.W.&deBelleroche,J.S., 1994
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
On the Inheritance of Intracranial Aneurysms
Stroke 25:2028-2037, Schievnink,W.I.,et al, 1994
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Increased Risk of Parkinson's Disease in Parents and Siblings of Patients
Ann Neurol 36:659-661, Payami,H.,et al, 1994
DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
Neurol 44:2250-2252, Gouider,R.,et al, 1994
Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
Neurol 44:2253-2257, Chance,P.F.,et al, 1994
Myotonic Dystrophy
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Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994
Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
Ann Int Med 120:133-134, Skinner,M.,et al, 1994
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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