Fragile X Premutation With Atypical Symptoms at Onset
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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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
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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
The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
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Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
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Autonomic Dysfunction in Machado-Joseph Disease
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The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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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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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
Genetic Testing in Spinocerebellar Ataxias
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Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
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
Neurol 53:1355-1357, Stevanin,G.,et al, 1999
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
CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Calcium Channels in Neurological Disease
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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
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The Inherited Ataxias and the New Genetics
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Isolated Vitamin E Deficiency
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Spinocerebellar Ataxias and Ataxins
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Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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