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
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
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Periventricular Heterotopia and Epilepsy
Neurol 44:51-55, Huttenlocher,P.R.,et al, 1994
Progressive Multifocal Leukoencephalopathy Complicating Wiskott-Aldrich Syndrome
Arch Neurol 51:422-426, Katz,D.A.,et al, 1994
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,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
Familial Progressive Subcortical Gliosis
Neurol 44:1633-1643, Lanska,D.J.,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
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,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
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
Familial Occurrence of Neurocardiogenic Syncope
NEJM 331:205, Cooper,C.J.,et al, 1994
Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Twin Birth is Not a Risk Factor for Seizures
Neurol 43:2515-2519, Berkovic,S.F.,et al, 1993
Shaken Baby Syndrome:Inflicted Cerebral Trauma
Pediatrics 92:872-875, Krugman,R.D.,et al, 1993
Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Copper-Histidine Therapy for Menkes Disease
J Pediatr 123:828-830, Sarkar,B.,et al, 1993
Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
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
Neurol 43:2387-2389, Singh,B.,et al, 1993
Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993
The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
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
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
A Neurological Gene Map
Arch Neurol 50:1269-1271, Rosenberg,R.N., 1993
Validity of Family History Data on Severe Headache and Migraine
Neurol 43:1954-1960, Ottman,R.,et al, 1993
Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and Von Hippel-Lindau Disease
NEJM 329:1531-1538, Neumann,H.P.H.,et al, 1993
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
Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993
Genetic Susceptibility in Familial Multiple Sclerosis not Linked to the Myelin Basic Protein Gene
Lancet 341:1179-1181, Rose,J.,et al, 1993