Location of Facioscapulohumeral Muscular Dystrophy Gene on Chromosome 4
Lancet 336:651-653, Wijmenga,C.,et al, 1990
Autosomal Dominant Cramping Disease
Arch Neurol 47:810-812, Ricker,K.&Moxley,R.T., 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
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
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
Progressive Myopathy in Hyperkalemic Periodic Paralysis
Arch Neurol 47:1013-1017, Bradkey,W.G.,et al, 1990
Hematologic Disorders and Ischemic Stroke
Stroke 21:1111-1121, Hart,R.G.&Kanter,M.C., 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
Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
Lancet 336:93-96, Shorvon,S.D., 1990
Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990
Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
Transmission and Age-At-Onset Patterns in Familial Alzheimer's Disease:Evidence for Heterogeneity
Neurol 40:395-403, Farrer,L.A.,et al, 1990
Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
NEJM 322:13-16, 54-551990., Sadeghi-Nejad,A.&Senior,B., 1990
The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990
Hyperostosis Cranialis Interna
NEJM 322:450-463, Manni,J.J.,et al, 1990
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
Neurol 40:66-69, Nygaard,T.G.,et al, 1990
A Large Kindred with Autosomal Dominant Parkinson's Disease
Ann Neurol 27:276-282, Golbe,L.I.,et al, 1990
Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
NEJM 322:28-32, 541990., Krivit,W.,et al, 1990
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989
Dyslexia
Editorial, Lancet 2:719-7201989., , 1989
MRI in Cockayne Syndrome Type 1
Neuroradiology 31:276-277, Boltshauser,E.,et al, 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
Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
Am J Med 87:481-483, Panegyres,P.K.,et al, 1989
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 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
Tourette's Syndrome:Current Concepts
Neurol 39:1625-1630, Kurland,R., 1989
Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
Neurol 39:282-283, Sadeh,M.,et al, 1989
Hereditary Sensory Neuropathy with Deafness:A Familial Multisystem Atrophy
Neurol 39:244-248, Horoupian,D.S., 1989
Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 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
Familial Idiopathic Striopallidodentate Calcifications
Neurol 39:381-385, Ellie,E.,et al, 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989