Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
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
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
Eur J Neurol 25:41-58, Deutschlander, A.B.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,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
Rapidly Progressive Neurodegenerative Dementias
Arch Neurol 66:201-207, Josephs,K.A.,et al, 2009
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Rapidly Progressive Dementia
Ann Neurol 64:97-108, Geschwind,M.D.,et al., 2008
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983
Progressive Pontobulbar Palsy With Deafness
Arch Neurol 38:186-190, Brucher,J.M.,et al, 1981
Cognitive and Clinical Characteristics of Patients with Limbic-Predominant Age-Related TDP-43 Encephalopathy
Neurol 100:e2027-e2035, Pagnotti,R.M.B.,et al, 2023
Neurodegenerative Disease Mortality Among Former Professional Soccer Players
NEJM 381:1801-1808,1862, Mackay, D.F.,et al, 2019
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
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 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
Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,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
The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
Arch Neurol 67:161-170,145, Yu,C.-E.,et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
What Are the Prospects of Stem Cell Therapy for Neurology?
BMJ 337:1325-1327, Chandran,S., 2008
Individual Dopaminergic Neurons Show Raised Iron Levels in Parkinson Disease
Neurol 68:1820-1825, Oakley,A.E.,et al, 2007
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Palliative Care for Patients With Amyotrophic Lateral Sclerosis
JAMA 298:207-216,248, Mitsumoto,H. &Rabkin,J.G., 2007
Cholinergic Vesicular Transporters in Progressive Supranuclesar Palsy
Neurol 58:1013-1018,997, Suzuki,M.,et al, 2002
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
Headache and CNS White Matter Abnormalities Associated with Gluten Sensitivity
Neurol 56:385-388, Hadjivassiliou,M.,et al, 2001
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Frontotemporal Dementia, Pick Disease, and Corticobasal Degeneration
Arch Neurol 54:1427-1429, Kertesz,A., 1997
A New Variant of Creutzfeldt-Jakob Disease in the UK
Lancet 347:921-925, 915, 916, 91796., Will,R.G.,et al, 1996
Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Apolipoprotein E Genotype in Diverse Neurodegenerative Disorders
Ann Neurol 38:131-135, Schneider,J.A.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993