Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
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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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
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, Olivopontocerebellar Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1106, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
Chronic Pain in Machado-Joseph Disease: A Frequent and Disabling Symptom
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The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
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Autonomic Dysfunction in Machado-Joseph Disease
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
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Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
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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
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Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
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Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
Neurol 55:527-532, Gilman,S. et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Spinocerebellar Ataxia Type 8
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Molecular Basis of the Neurodegenerative Disorders
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Clinical and MRI Findings in Spinocerebellar Ataxia Type 5
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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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Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease
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CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
Neurol 51:882-884, Abe,Y.,et al, 1998
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Clinical Usefulness of Magnetic Resonance Imaging in Multiple System Atrophy
JNNP 65:65-71, Schrag,A.,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
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Clinical and Molecular Features of Spinocerebellar Ataxia Type 6
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Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
Double-Blind Study with Levorotatory form of Hydroxytryptophan in Pts with Degen Cerebellar Dis
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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995
Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995
PET Studies on the Dopaminergic Sys & Striatal Opioid Binding in the OPCA Variant of Multiple System Atrophy
Ann Neurol 37:568-573, Rinne,J.O.,et al, 1995
Dopa-Responsive parkinsonism Phenotype of Machado-Jospeh Disease:Confirmation of 14q CAG Expansion
Ann Neurol 48:684-687, Tuite,P.J.,et al, 1995
Clinicopathological Study of 35 Cases of Multiple System Atrophy
JNNP 58:160-166, Wenning,G.K.,et al, 1995
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
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
Neurol 43:318-325, Wullner,U.,et al, 1993
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Presynaptic Parkinsonism in Olivopontocerebellar Atrophy:Clinical, pathological, and Neurochemical Evidence
Ann Neurol 30:425-428, Pascual,J.,et al, 1991
A Quantitative Evaluation of Pontine Volume by Computed Tomography in Patients with Cerebral Degeneration
Neurol 40:1241-1245, Chida,K.,et al, 1990
Olivopontocerebellar Atrophy:MR Diagnosis and Relationahip to Multisystem Atrophy
Radiology 174:693-696, Savoiardo,M.,et al, 1990
Idiopathic Cerebellar Ataxia of Late Onset:Natural History and MRI Morphology
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