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Notch3 gene, false negative
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Red flags
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Showing articles 850 to 900 of 1619 << Previous Next >>

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995

Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 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

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994

Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994

Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
Ann Int Med 120:133-134, Skinner,M.,et al, 1994

Periventricular Heterotopia and Epilepsy
Neurol 44:51-55, Huttenlocher,P.R.,et al, 1994

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 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

Superoxide Dismutase and ALS
Lancet 344:1651-1652, Orrell,R.W.&deBelleroche,J.S., 1994

Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994

On the Inheritance of Intracranial Aneurysms
Stroke 25:2028-2037, Schievnink,W.I.,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
Stroke 25:508-510, Papa,M.L.,et al, 1994

Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,et al, 1994

The British Isles Survey of Multiple Sclerosis in Twins
Neurol 44:11-15, Mumford,C.J.,et al, 1994

Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994

Myotonic Dystrophy with No Trinucleotide Repeat Expansion
Neurol 35:269-272, 2551994., Thornton,C.A.,et al, 1994

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
Neurol 44:551-554, Bergoffen,J.,et al, 1994

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

The Importance of Family History in Cerebrovascular Disease
Stroke 25:1599-1604, Graffagnini,C.,et al, 1994

Study of Antiphospholipid Antibodies in a Patient with Sneddon's Syndrome and Her Family
Stroke 25:1071-1074, Lousa,M.,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
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994

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

The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
Ann Neurol 35, 717-7231994., Koller,W.C.,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
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

Human Prion Diseases
Ann Neurol 35:385-395, Prusiner,S.B.&Hsiao,K.K., 1994

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Human Spongiform Encephalopathy:The NIH Series of 300 Cases of Experimentally Transmitted Disease
Ann Neurol 35:513-529, Brown,P.,et al, 1994

Benign Familial Disease with Muscle Mounding and Rippling
JNNP 57:344-347, Burns,R.J.,et al, 1994

Congenital Myasthenic Syndromes
In:Neurologic Clinics, 12:401-4371994., Engel,A.G., 1994

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
neurol 44:1083-1086, Lasser,D.M.,et al, 1994

Reduced GABA Synthesis in Pyridoxine-Dependent Seizures
Lancet 343:1133-1134, Gospe,S.M.,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



Showing articles 850 to 900 of 1619 << Previous Next >>