Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Genetic Testing in Spinocerebellar Ataxias
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Magnetic Resonance Imaging of Brain Iron in Health and Disease
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Chronic Neurodegenerative Disease Associated with HTLV-II Infection
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Familial Multisystem Atrophy with Possible Thalamic Dementia
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Progressive Pontobulbar Palsy With Deafness
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Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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Cognitive and Clinical Characteristics of Patients with Limbic-Predominant Age-Related TDP-43 Encephalopathy
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Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
Atypical Parkinsonian Syndromes: A General Neurologists Perspective
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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
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
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Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,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
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 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
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
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T2* and FSE MRI Distinguishes Four Subtypes of Neurodegeneration With Brain Iron Accumulation
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Spinal Muscular Atrophy
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Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
Mitochondrial Respiratory-Chain Diseases
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MR Features of Diseases Involving Bilateral Middle Cerebellar Peduncles
AJNR 24:1946-1954, Okamoto,K.,et al, 2003
The Topography of Metabolic Deficits in Posterior Cortical Atrophy (the Visual Variant of Alzheimers Disease) with FDG-PET
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002
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
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,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
CT and MR Findings of Neuroacanthocytosis
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Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997
Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
Neurol 49:1598-1604, Brandmann,O.,et al, 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