New Onset Weakness in the Face and Arm
BMJ 368:L7077, Brites, L.,et al, 2020
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
A 13-year-old boy with Chronic Ataxia and Developmental Delay
Neurol 88:e116-e121, Libdeh, A.A.,et al, 2017
SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016
Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Long-Term Survival with Favorable Cognitive Outcome After Chemotherapy in Primary Central Nervous System Lymphoma
Ann Neurol 67:182-189, Juergens,A.,et al, 2010
High-Dose Cytarabine Plus High-Dose Methotrexate Versus High-Dose Methotrexate Alone in Patients with Primary CNS Lymphoma: A Randomised Phase 2 Trial
Lancet 374:1512-1520, 1477, Ferreri,A.,et al, 2009
Failure of Cytarabine in Progressive Multifocal Leukoencephalopathy Associated with Human Immunodeficiency Virus Infection
NEJM 338:1345-1351, 13781998., , 1998
Transient Ara-C Leukoencephalopathy:MR Findings
J Comput Assist Tomogr 20:161-169, Patel,A.G.&Rao,R., 1996
Progressive Multifocal Leukoencephalopathy:Clinical and MR Response to Treatment
AJNR 17:597-600, Garrels,K.,et al, 1996
Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996
The Natural History of Progressive Mutlifocal Leukoencephalopathy in Patients with AIDS
Clin Inf Dis 20:1305-1310, Fong,I.W.,et al, 1995
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
Successful Outcome of Progressive Multifocal Leukoencephalopathy with Cytarabine and Interferon
Ann Neurol 33:407-411, Steiger,M.J.,et al, 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Treatment of Leptomeningeal Metastasis with Intravent Admin of Depot Cytarabine (DTC 101)
Arch Neurol 50:261-264, Chamberlain,M.C.,et al, 1993
Efficacy of Cytarabine in Progressive Multifocal Leucoencephalopathy in AIDS
Lancet 339:306, Nicoli,F.,et al, 1992
Acute Cerebrovascular Episodes in Systemic Lupus Erythematosus
Quart J Med 293:739-750, Eustace,S.,et al, 1991
A Controlled Trial Comparing Vidarabine with Acyclovir in Neonatal Herpes Simples Infection
NEJM 324:444-449, Whitley,R.,et al, 1991
Dystrophin Analysis in Duchenne & Becker Muscular Dystrophy Carriers:Correl with Intracellular Calcium & Albumin
Ann Neurol 28:674-679, Morandi,L.,et al, 1990
Progressive Multifocal Leukoencephalopathy-Remission with Cytarabine
J Infection 20:51-54, O'Riordan,T.,et al, 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
A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Presymptomatic Neuropsychological Impairment in Huntington's Disease
Arch Neurol 45:769-773, Jason,G.W.,et al, 1988
Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
Wertelecki. W. , et al, NEJM 319:276-2838., , 1988
The Combined Use of Positron Emission Tomography & DNA Polymorphisms for Preclinical Detection of Huntington's Disease
Neurol 37:1441-1447, Hayden,M.R.,et al, 1987
Vidarabine Versus Acyclovir Therapy in Herpes Simplex Encephalitis
NEJM 314:144-149, Whitley,R.J.,et al, 1986
Huntington's Disease, Pathogenesis & Management
NEJM 315:1267-1276, Martin,J.B.&Gusella,J.F., 1986
Genetic Prediction & Family Structure in Huntington's Chorea
BMJ 290:1929-1931, Harper,P.S.,et al, 1985
Prenatal Diagnosis & Carrier Detection of Duchenne Muscular Dystrophy with Closely Linked RFLPs
Lancet 1:655-658, Bakker,E.,et al, 1985
Central Nervous System Toxicity with High-Dose Ara-C
Neurol 35:1475-1479, Hwang,T.,et al, 1985
A DNA Polymorphism for Huntington's Disease Marks the Future
Arch Neurol 42:20-24, Wexler,N.S.,et al, 1985
Genetic Testing in Huntington's Disease
Ann Neurol 16:511-513, Koller,W.C.,et al, 1984
Vidarabine Encephalopathy
JNNP 47:1351-1354, Cullis,P.A.,et al, 1984
Acyclovir Versus Vidarabine in Herpes Simplex Encephalitis
Lancet 2:707-711, Skoldenberg,B.,et al, 1984
Clin Path. Conference
Necrotizing Encephalomyelopath, Secondary to Irradiation & Intrathecal Methotrexate, Case Record 36-, 983, 311:653-662,1984., 1984
Molecular Genetics, Recombinant DNA Techniques, & Genetic Neurological Disease
Ann Neurol 15:511-520, Rosenberg,R.N., 1984
Treatment of Herpes Virus Infections
NEJM 309:963-970, 1034-10391983., Hirsch,M.S.,et al, 1983
Cerebellar Degeneration Caused by High-Dose Cytosine Arabinoside:A Clinicopathological Study
Ann Neurol 14:520-527, Winkelman,M.D.,et al, 1983
Recombinant DNA & Neurologic Disease:The Coming of a New Age
Neurol 33:622-625, Rosenberg,R.N., 1983
Myelopathy after Herpes Zoster
Arch Neurol 40:445-446, Muder,R.R.,et al, 1983
Paraparesis Following Intrathecal Chemotherapy
Neurol 33:1032-1038, Hahn,A.F.,et al, 1983
A Genetic Marker for Huntington's Chorea
BMJ 287:1567-1568, Harper,P.S., 1983