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
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
Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990
Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
Ann Int Med 113:39-52, Mulvihill,J.J.,et al, 1990
Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
JNNP 53:644-648, Boughey,A.M.,et al, 1990
Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
Stroke 21:633-636, Cros,D.,et al, 1990
Genetic Testing for Huntington's Disease
BMJ 300:1089-1090, Harper,P.,et al, 1990
Progress in Tuberous Sclerosis
Editorial, Lancet 336:598-5991990., , 1990
The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990
Defective Gallium-Transferrin Binding in Alzheimer Disease & Down Syndrome:Possible Mechanism for Aluminium in Brain
Lancet 335:747-50, Farrar,G.,et al, 1990
Narcolspey
NEJM 323:389-394, Aldrich,M.S., 1990
Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990
Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
Stroke 21:626-632, Schievink,W.I.,et al, 1990
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
NEJM 322:13-16, 54-551990., Sadeghi-Nejad,A.&Senior,B., 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
The Natural History of Dementia in Down's Syndrome
Arch Neurol 47:263-267, Evenhuis,H.M., 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
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
Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Risk Factors for Multiple Sclerosis:Race or Place? Editorial
JNNP 53:821-823, 903, 906990., Compston,A., 1990
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990
Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990
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
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
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