Progress in the Genetics of Cerebrovascular Disease Inherited Subcortical Arteriopathies
Stroke 25:1696-1698, Bowler,J.V.&Hachinski,V., 1994
A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
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Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
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Increased Risk of Alzheimer's Disease in Mothers of Adults with Down's Syndrome
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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
Familial Progressive Subcortical Gliosis
Neurol 44:1633-1643, Lanska,D.J.,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
Congenital Myasthenic Syndromes
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
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Reduced GABA Synthesis in Pyridoxine-Dependent Seizures
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Familial Occurrence of Neurocardiogenic Syncope
NEJM 331:205, Cooper,C.J.,et al, 1994
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Cerebral Involvement in McLeod Syndrome
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The British Isles Survey of Multiple Sclerosis in Twins
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Clinical Genetics in Neurological Disease
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Familial Autoimmune Myasthenia Gravis
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Advances in Molecular Analysis of Fragile X Syndrome
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Increased Risk of Parkinson's Disease in Parents and Siblings of Patients
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
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Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
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Myotonic Dystrophy
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993
Twinning and Cerebral Palsy:Experience in Four Northern California Counties, Births 1983 Through 1985
Pediatrics 92:854-858, Grether,J.K.,et al, 1993
Choroido-Cerebral Calcification Syndrome with Retardation
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Autosomal Dominant Parkinsoniam with Benign Course and Typical Lewy-Body Pathology
Neurol 43:2222-2227, Golbe,L.I.,et al, 1993
DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
Inherited Primary Peripheral Neuropathies
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Copper-Histidine Therapy for Menkes Disease
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The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
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Molecular Genetics in Neurology
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A Neurological Gene Map
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Validity of Family History Data on Severe Headache and Migraine
Neurol 43:1954-1960, Ottman,R.,et al, 1993
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
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Molecular Genetic Advances in Fragile X Syndrome
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Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
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Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
J Pediatr 123:431-434, Hamiel,O.P.,et al, 1993
Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,et al, 1993