Location of Facioscapulohumeral Muscular Dystrophy Gene on Chromosome 4
Lancet 336:651-653, Wijmenga,C.,et al, 1990
Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990
Autosomal Dominant Cramping Disease
Arch Neurol 47:810-812, Ricker,K.&Moxley,R.T., 1990
Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
Neurol 40:1450-1453, Defesche,J.C.,et al, 1990
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990
Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Cranial MR in Phenylketonuria
J Comput Assist Tomogr 14:458-460, Shaw,D.W.W.,et al, 1990
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
Neurol 40:1359-1363, Coppeto,J.R.&Lessel,S., 1990
Tangier Disease in a Black Patient:An Unusual Clinical Presentation
Am J Med 89:105-108, Lo,W.D.,et al, 1990
Familial Multiple Symmetric Lipomatosis with Peripheral Neuropathy
Neurol 40:1246-1250, Chalk,C.H.,et al, 1990
A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 1989
Dyslexia
Editorial, Lancet 2:719-7201989., , 1989
Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
Ann Neurol 26:699-708, Hold,I.J.,et al, 1989
Familial X-linked Myalgia and Cramps:A Nonprogressive Myopathy Associated with a Deletion in the Dystrophin Gene
Neurol 39:1277-1280, Gospe,S.M.,et al, 1989
Peripheral Neuropathy in Amyotrophic Chorea-Acanthocytosis
Ann Neurol 26:583-587, Vista,G.,et al, 1989
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989
Tourette's Syndrome:Current Concepts
Neurol 39:1625-1630, Kurland,R., 1989
Familial Patterns of Narcolepsy
lancet 2:1376-1379, Guilleminault,C.,et al, 1989
Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989
Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,et al, 1989
Problems in Genetic Prediction for Huntington's Disease
Lancet 2:601-603, Morris,M.J.,et al, 1989
Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Hereditary Motor & Sensory Neuropathy with Optic Atrophy, Ultrastructural and Morphometic Observations
Arch Neurol 46:973-977, Sommer,C.&Schroder,J.M., 1989
Rippling Muscle Disease
Arch Neurol 46:405-408, Ricker,K.,et al, 1989
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
A Defect in Mitochondrial Electron-Transport Activity in Leber's Hereditary Optic Neuropathy
NEJM 320:1331-1333, Parker,W.D.,et al, 1989
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Neurological and Developmental Findings in Children with Cataracts
Am J Dis Child 13:706-710, Pike,M.G.,et al, 1989
Neurologic Complications in Long-Standing Nephropathic Cystinosis
Arch Neurol 46:543-548, Fink,J.K.,et al, 1989
Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989
Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
NEJM 320:1735-1740, Schindler,D.,et al, 1989
Aicardi Syndrome in Two Sisters
J Pediatr 115:282-283, Molina,J.A.,et al, 1989
Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
J Comput Assist Tomogr 13:743-755, Filling-Katz,M.R.,et al, 1989
Juvenile Myoclonic Epilepsy:An Autosomal Recessive Disease
Ann Neurol 25:440-443, Panayiotopoulos,C.P.&Obeid,T., 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Magnetic Resonance Imaging in a Family with Hereditary Cerebral Arteriovenous Malformations
Arch Neurol 46:184-187, Allard,J.C.,et al, 1989
Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 1989
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Bilateral Opercular Polymicrogyria
Ann Neurol 25:90-92, Becker,P.S.,et al, 1989
Predictive Testing for Huntington's Disease, Progress and Problems
BMJ 298:404-405, 1989, Harper,P.S.&Morris,M.J., 1989
Predisposing Locus for Alzheimer's Disease on Chromosome 21
Lancet 1:352-355, Goate,A.M.,et al, 1989
Criteria for Establishing the Validity of Genetic Recombination in Myotonic Dystrophy
Neurol 39:420-421, Griggs,R.C.,et al, 1989
Mitochondrial DNA and Genetic Disease
Editorial, Lancet 1:250-2511989., , 1989