Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968
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
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
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
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
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
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
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
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
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
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
CSF Detection of the 14-3-3 Protein in Unselected Patients with Dementia
Neurol 56:1528-1533, Burkhard,P.R.,et al, 2001
Pathologic Heterogeneity in Clinically Diagnosed Corticobasal Degeneration
Neurol 53:795-800, Boeve,B.F.,et al, 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Neurodegenerative Diseases of Childhood:MR and CT Evaluation
J Comput Assist Tomogr 15:210-222, Mirowitz,S.A.,et al, 1991
The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults
Neurol 41:794-798, Coker,S.B., 1991
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Progressive Language Impairment without Dementia:A Case with Isolated Category Specific Semantic Defect
JNNP 51:1201-1207, Basso,A.,et al, 1988
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983