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Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation
Muscle & Nerve, 10/20/09
McHugh JC et al. – Two siblings who developed fifth–decade–onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene. The clinical course in both subjects was progression to severe disability. The enlarging spectrum of sensory ataxic neuropathies associated with mitochondrial DNA (mtDNA) instability and POLG mutations should be recognized and considered in the differential diagnosis of this unusual presentation.
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Effect of IFN-beta therapy on the frequency and function of CD4+CD25+ regulatory T cells and Foxp3 gene expression in relapsing–remitting multiple sclerosis (RRMS): A preliminary study
Journal of Neuroimmunology, 11/25/09
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders
Human Molecular Genetics, 11/25/09
Lack of association between five serotonin metabolism-related genes and medication overuse headache
The Journal of Headache and Pain, 11/25/09
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Prevalence of Symptomatic Charcot-Marie-Tooth Disease in Iceland: A Study of a Well-Defined Population
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Multifocal Paraneoplastic Cortical Encephalitis Associated With Myasthenia Gravis and Thymoma
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Differential Immunohistological Features of Inflammatory Myopathies and Dysferlinopathy
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