Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Increased Risk of Parkinson's Disease in Parents and Siblings of Patients
Ann Neurol 36:659-661, Payami,H.,et al, 1994
DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
Neurol 44:2250-2252, Gouider,R.,et al, 1994
Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
Neurol 44:2253-2257, Chance,P.F.,et al, 1994
Superoxide Dismutase and ALS
Lancet 344:1651-1652, Orrell,R.W.&deBelleroche,J.S., 1994
Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993
X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
Lancet 342:1197-1200, Murphy,D.G.M.,et al, 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
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
Present & Initial Clin Course in Pts with CIDP:Comparison of Pts Without & With Monoclonal Gammopathy
Neurol 43:2202-2209, Simmons,Z.,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
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Gene Therapy for Neurologic Disease
Arch Neurol 50:1252-1268, Suhr,S.T.&Gage,F.H., 1993
A Neurological Gene Map
Arch Neurol 50:1269-1271, Rosenberg,R.N., 1993
Validity of Family History Data on Severe Headache and Migraine
Neurol 43:1954-1960, Ottman,R.,et al, 1993
MRI Abnormalities in Creutzfeldt-Jakob Disease
Neuroradiology 35:584-585, DiRocco,A.,et al, 1993
Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and Von Hippel-Lindau Disease
NEJM 329:1531-1538, Neumann,H.P.H.,et al, 1993
Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
J Pediatr 123:431-434, Hamiel,O.P.,et al, 1993
Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Pontine and Extrapontine Myelinolysis:A Neurologic Disorder Following Rapid Correction of Hyponatremia
Medicine 72:359-373, Karp,B.I.&Laureno,R., 1993
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993
Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
Neurol 43:318-325, Wullner,U.,et al, 1993
Ischemic Stroke Due to Deficiency of Coagulation Inhibitors, Report of 10 Young Adults
Stroke 24:19-25, Martinez,H.R.,et al, 1993
Free Protein S Deficiency in Acute Ischemic Stroke, A Case-Control Study
Stroke 24:224-227, Mayer,S.A.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Motor Neuron Diseases and Amyotrophic Lateral Sclerosis:GM1 Antibodies and Paraproteinemia
Neurol 43:418-420, Sanders,K.A.,et al, 1993
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993
Creutzfeldt-Jakob Disease and Blood Transfusion
lancet 341:205-207, Esmonde,T.F.G.,et al, 1993
Clinicopath Conf
Subacute Bacterial Endocarditis with Multiple Cerebral Emboli and Mycotic Aneurysm, Case 10-1993, NE, M 8:717-725,1993., 1993
Persistence of Initial Infection in Recurrent Cryptococcus Neuformans Meningitis
Lancet 341:595-596, Spitzer,E.D.,et al, 1993
Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993
Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993
Abnormal Expression of Dystrophin-Associated Proteins in Fukuyama-Type Congenital Muscular Dystrophy
Lancet 341:521-522, Matsumura,K.,et al, 1993
Gerstmann-Straussler-Schneinker Syndrome:MR Findings
J Comput Assist Tomogr 17:326-327, Wimberger,D.,et al, 1993
Sleep Paralysis
Lancet 341:406-407, Dahlitz,M.&Parkes,J.D., 1993
Neurologic Prognosis of Cytomegalovirus Polyradiculomyelopathy in AIDS
Neurol 43:493-499, Cohen,B.A.,et al, 1993
Creutzfeldt-Jakob Disease in a Physician:A Review of the Disorder in Health Care Workers
Neurol 43:205-206, Berger,J.R.&David,N.J., 1993
Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
Neurol 43:668-673, Feero,W.G.,et al, 1993
Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993