Choroido-Cerebral Calcification Syndrome with Retardation
Neurol 43:2387-2389, Singh,B.,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
Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993
Clinicopath Conf
Acquired Demyelinating Neuropathy, ? CIDP, ? Motor Neuropathy with Multifocal Conduction Blocks, Cas, 41-1EJM 329:1182-1190,1993., 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
Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993
Copper-Histidine Therapy for Menkes Disease
J Pediatr 123:828-830, Sarkar,B.,et al, 1993
Atypical MR Presentation of Wilson Disease:A Possible Consequence of Paramagnetic Effect of Copper
Neuroradiology 34:222-224, Brugieres,P.,et al, 1992
Disappearance of Kayser-Fleischer Rings Following Liver Transplantation
Transplant Proc 24:1483-1485, Song,H.S.,et al, 1992
Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
Familial Rectal Pain:A Type of Reflex Epilepsy?
Ann Neurol 32:824-826, Schubert,R.&Cracco,J.B., 1992
Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992
Human T Lymphotropic Virus Type I-Assoc Myelopathy, A Rpt of 10 Pts Born in US
Arch Neurol 49:1113-1118, Sheremata,W.A.,et al, 1992
Chronic Myelopathy Associated with Human T-Lymphotropic Virus Type I (HTLV-I)
Ann Int Med 117:933-946, Gessain,A.&Gout,O., 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
Effect of Add-on Amantadine Therapy for Refractory Absence epilepsy
J Pediatr 121:819-821, Shahar,E.M.&Brand,N., 1992
Typical Absence Seizures in Adults:Clinical, EEG, Video-EEG Findings & Diagnostic/Syndr Consider
JNNP 55:1002-1008, Panayiotopoulos,C.P.,et al, 1992
Prolonged Absence Status epilepticus Assoc with Carbamazepine, Increased ICP & Trans MRI Abnor
Neurol 42:2198-2201, Callahan,D.J.&Noetzel,M.J., 1992
Parkinson's Disease in Twins Studied with 18 F-Dopa and Positron Emission tomography
Neurol 42:1894-1900, Burn,D.J.,et al, 1992
Giant Axonal Neuropathy:Progressive Clinical and Radiologic CNS Involvement
Neurol 42:2220-2221, Richen,P.&Tandan,R., 1992
Intramedullary Cavernous Angiomas of the Spinal Cord:Clinical, Path, & Surgical Manag
Neurosurgery 31:219-230, Ogilvy,C.S.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Isolated Granulomatous Angiitis of the Spinal Cord
Ann Neurol 32:580-582, Caccamo,D.V.&Garcia,J.H., 1992
Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 1992
Intracranial Aneurysms in Autosom Dominant Polycystic Kidney Disease
NEJM 327:916-920, 9531992., Chapman,A.B.,et al, 1992
Ceftazidime Encephalopathy:Absence Status and Toxic Hallucinations
JNNP 55:333-334, Jackson,G.D.&Berkovic,S.F., 1992
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Aspartame Exacerbates EEG Spike-Wave Discharge in Children with Generalized Absence Epilepsy:A Double-Blind Study
Neurol 42:1000-1003, Camfield,P.R.,et al, 1992
Multiple Sclerosis in 54 Twinships:Concordance Rate is Independent of Zygosity
French Res. Gr. of MS, Ann Neurol 32:724-727, 7222., , 1992
Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 1992
Familial Multiple Sclerosis:MRI Findings in Clinically Affected and Unaffected Siblings
JNNP 55:883-886, Teinari,P.J.,et al, 1992
Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,et al, 1992
Analysis of the Prion Protein Gene in Thalamic Dementia
Neurol 42:1859-1863, Petersen,R.B.,et al, 1992
Familial Alzheimer's Disease:Second Gene Locus Located, Markers for Familial Disease May be Available
BMJ 305:1108-1109, Mullan,M., 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Clinical and Electrophysiologic Improvement in Lambert-Eaton Syndrome with Intravenous Immunoglobulin Therapy
Neurol 42:1422-1423, Bird,S.J., 1992
Parkinson's Disease in Twins
Neurol 42:1453-1461, Vieregge,P.,et al, 1992
Olfactory Function in Essential Tremor
Neurol 42:1631-1632, Busenbark,K.L.,et al, 1992
'De Novo'Absence Status of Late Onset:Report of 11 Cases
Neurol 42:104-110, Thomas,P.,et al, 1992
The Biology of Developmental Dyslexia
JAMA 268:912-915, Rumsey,J.M., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992