Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
Stridor in Multiple System Atrophy
Neurol 93:630-639, Cortelli, P.,et al, 2019
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
Eur J Neurol 25:41-58, Deutschlander, A.B.,et al, 2018
Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
NEJM 376:158-167, Case 1-2017, 2017
Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
Neurodegenerative causes of death among retired National Football League Players
Neurol 79:1970-1974, Lehman, E.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
A 75-Year-Old Woman with Progressive Right-Hand Tremor and Inability to Use Her Right Side
Neurol 73:1399-1405, Kertesz,A.,et al, 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
T2* and FSE MRI Distinguishes Four Subtypes of Neurodegeneration With Brain Iron Accumulation
Neurol 70:1614-1619, McNeill,A.,et al, 2008
Second Consensus Statement on the Diagnosis of Multiple System Atrophy
Neurol 71:670-676, Gilman,S.,et al., 2008
Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007
The "Eye-of-the-Tiger" Sign is Not Pathognomonic of the PANK2 Mutation
Arch Neurol 63:292-293, Kumar,N.,et al, 2006
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Apoptosis and Caspases in Neurodegenerative Diseases
NEJM 348:1365-1375, Friedlander,R.M., 2003
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
MR Features of Diseases Involving Bilateral Middle Cerebellar Peduncles
AJNR 24:1946-1954, Okamoto,K.,et al, 2003
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
CSF Detection of the 14-3-3 Protein in Unselected Patients with Dementia
Neurol 56:1528-1533, Burkhard,P.R.,et al, 2001
Stem-Cell Research: Drawing the Line
Lancet 358:163,217, Greenberg,D.S., 2001
Pathologic Heterogeneity in Clinically Diagnosed Corticobasal Degeneration
Neurol 53:795-800, Boeve,B.F.,et al, 1999
Progressive Atrophy of Cerebellum & Brainstem, Age & Size of Expanded CAG Repeats in the MJDI Gene in Machado-Joseph Dis
Ann Neurol 43:288-296, Onokera,O.,et al, 1998
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
Corticobasal Degeneration:Neuropathologic and Clinical Heterogeneity
Neurol 48:959-969, Schneider,J.A.,et al, 1997
Neurological Signs, Aging, and the Neurodegenerative Syndromes
Arch Neurol 53:498-502, Waite,L.M.,et al, 1996
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995
Excitatory Amino Acids as a Final Common Pathway for Neurologic Disorders
NEJM 330:613-622, Lipton,S.A.&Rosenberg,P.A., 1994
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
Neurol 43:318-325, Wullner,U.,et al, 1993
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Are There Really Alternatives to the Use of Fetal Tissue from Elective Abortions in Transplant Research?
NEJM 327:1592-1595, Garry,D.J.,et al, 1992
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
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988
Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981