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
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
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
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 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
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Disappearance of Kayser-Fleischer Rings Following Liver Transplantation
Transplant Proc 24:1483-1485, Song,H.S.,et al, 1992
Atypical MR Presentation of Wilson Disease:A Possible Consequence of Paramagnetic Effect of Copper
Neuroradiology 34:222-224, Brugieres,P.,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
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Wilson's Disease
In Oxford Textbook of Clin Hepatology, Oxford Univ Press, Vol 2, Ch 20. 1, p. 947, Sternlieb,I.&Scheinberg,I.H., 1991
Neurological and Neuropsychiatric Spectrum of Wilson's Disease:A Prospective Study of 45 Cases
J Neurol 238:281-287, Oder,W.,et al, 1991
Wilson's Disease with Neurological Impairment but no Kayser-Fleischer Rings
Lancet 337:1426, Willeit,J.&Kiechl,S.G., 1991
Tongue Dyskinesia as an Early Manifestation of Wilson Disease
Brain & Devel 13:451-453, Liao,K.K.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
Neurol 41:1651-1655, Durner,M.,et al, 1991
Monozygotic Twins with Seizures, Shared Characteristics
Arch Neurol 48:1041-1045, Segal,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991
Prenatal Origin of Hemiparetic Cerebral Palsy:How Often and Why?
Pediatrics 88:1059-1062, Nelson,K.B., 1991
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
The Spongiform Encephalopathies, Editorial
JNNP 54:761-763, Will,R.G., 1991
Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
Am J Med 91:416-422, Jurzrock,R.&Cohen,P.R., 1991
More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991
Clinical Genetics and Genetic Counseling in Alzheimer Disease
Ann Int Med 115:601-606, Breitner,J.C.S., 1991
Discordance and Concordance of Dementia of the Alzheimer Type (DAT) in Monozygotic Twins
Neurol 41:1549-1553, Rapoport,S.I.,et al, 1991
Is Essential Tremor Benign?
Neurol 41:1982-1983, Busenbark,K.L.,et al, 1991
Cerebral Haemorrhage and Berry Aneurysm:Evidence from a Family for a Pattern of Autosomal Dominant Inheritance
JNNP 54:838-840, Shinton,R.,et al, 1991
Familial Association of Intracranial Aneurysms and Cervical Artery Dissections
Stroke 22:1426-1430, Schievink,W.I.,et al, 1991
Central Nervous System Involvement in Von Hippel-Lindau Disease
Neurol 41:41-46, Filling-Katz,M.R.,et al, 1991
Genetice of Cerebrovascular Disease
Stroke 22:276-280, Alberts,M.J., 1991
Detection of Tuberous Sclerosis in Parents by Magnetic Resonance Imaging
Neurol 41:262-265, Roach,E.S.,et al, 1991
Tourette Syndrome and Other Tic Disorders, Diagnosis, Pathophysiology, and Treatment
Medicine 70:15-32, Singer,H.S.&Walkup,J.T., 1991
A Genetic Study of Idiopathic Focal Dystonias
Ann Neurol 29:320-324, Waddy,H.M.,et al, 1991
Long-Term Suppression of Tremor by Chronic Stimulation of the Ventral Intermediate Thalamic Nucleus
Lancet 337:403-406, Benabid,A.L.,et al, 1991
HTLV-I-Associated Myelopathy Associated with Blood Transfusion in the US:Epidemiologic & Molecular Evidence
Neurol 41:192-197, Kaplan,J.E.,et al, 1991
Syphilitic Meningomyelitis
Neurol 41:325-326, Strom,T.&Schneck,S.A., 1991
Myelopathic Neurosarcoidosis:Diagnostic Value of Enhanced MRI
Neurol 41:150-151, Sauter,M.K.,et al, 1991
Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991
The Effect of Flunarizine on Essential Tremor
Neurol 41:311-312, Biary,N.,et al, 1991