Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
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Neuroimaging Changes in Menkes Disease, Part 1
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
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A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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A New Variant of Creutzfeldt-Jakob Disease in the UK
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
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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Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
NEJM 315:997-1003, Lugaresi,E.,et al, 1986
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
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Orthostatic Myoclonus Associated with CASPR2 Antibodies
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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
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Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Huntingtons Disease
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Neuroimaging Findings in Human Prion Disease
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Amyotrophic Lateral Sclerosis
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Pathogenetic Mechanisms of Parkin in Parkinson's Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Alzheimer's Disease and Parkinson's Disease
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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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
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Headache and CNS White Matter Abnormalities Associated with Gluten Sensitivity
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Genetic Testing in Spinocerebellar Ataxias
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Molecular Basis of the Neurodegenerative Disorders
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Progressive Atrophy of Cerebellum & Brainstem, Age & Size of Expanded CAG Repeats in the MJDI Gene in Machado-Joseph Dis
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
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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
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Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
Neurol 49:1598-1604, Brandmann,O.,et al, 1997
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
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994