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Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021

Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019

Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
Brain DOI: 10.1093/brain/awz099, Nelson, P.T.,et al, 2019

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017

Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014

Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014

An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010

Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009

Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009

A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008

Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007

Genetic Factors in Alzheimer's Disease
NEJM 352: 862-863, 884, Bird, T., 2005

Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003

Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003

Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003

The Genetics of Alzheimer Disease, Current Status and Future Prospects
Arch Neurol 55:294-296, Blacker,D.&Tanzi,R.E., 1998

Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease
JAMA 280:619-622, 6521998., Wu,W.S.,et al, 1998

Evidence for an Alzheimer Disease Susceptability Locus on Chromosome 12 and for Further Locus Heterogeneity
JAMA 280:614-618, 6521998., Rogaeva,E.,et al, 1998

Complete Genomic Screen in Late-Onset Familial Alzheimer Disease, Evidence for a New Locus on Chromosome 12
JAMA 278:1237-1241, 12821997., Pericak-Vance,M.A.,et al, 1997

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996

Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995

Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994

Familial Alzheimer's Disease
Ann Neurol 36:335-336, Bird,T.D., 1994

Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994

Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Familial Alzheimer's Disease:Second Gene Locus Located, Markers for Familial Disease May be Available
BMJ 305:1108-1109, Mullan,M., 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989

The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988

Genetic Linkage in Neurologic Diseases
Editorial, NEJM 316:1018-10201987., Martin,J.B., 1987

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986



Showing articles 0 to 45 of 45