Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
Neurol 64:1258-1260, Chen,D-H.,et al, 2005
Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
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
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
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
Neurol 49:1009-1013, Lorenzetti,D.,et al, 1997
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995
Double-Blind Study with Levorotatory form of Hydroxytryptophan in Pts with Degen Cerebellar Dis
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Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Idiopathic Cerebellar Ataxia of Late Onset:Natural History and MRI Morphology
JNNP 53:297-305, Klockgether,T.,et al, 1990
Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
Arch Neurol 42:757-758, Trauner,D.A., 1985
Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
A Family with Hereditary Ataxia:HLA Typing
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Clin. Path. Conference
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Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978
Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Physostigmine in Familial Ataxias
Neurol 27:70, Kark,R.A.,et al, 1977
Spinocerebellar Ataxia & HLA Linkage:Risk Prediction by HLA Typing
NEJM 296:1138, Jackson,J.F.,et al, 1977
Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Ann Neurol 87:10-11, Van Samkar, A.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019
A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,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
Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016
SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016
Copper Deficiency
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Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Cerebellar Degeneration
Adams & Victors Principles of Neurology, Chp 39, pg 1105, Ropper, A.H.,et al, 2014
Subacute Sclerosing Panencephalitis
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011