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Multiple Sclerosis Severity Score
Background: There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment in the course of theExpand
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AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
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Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
The genetic aetiologies of at least 20% of autosomal dominant spinocerebellar ataxias (SCAs) have yet to be elucidated. We have recently identified a novel form of autosomal dominant SCA, termedExpand
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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
Rett syndrome is an X linked mental retardation syndrome almost exclusively affecting girls, and has long been regarded as an X linked dominant condition lethal in hemizygous males.1 Mutations in theExpand
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. WeExpand
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An Isoform of Ataxin‐3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients
Autosomal dominant spinocerebellar ataxias (SCA) form a group of clinically and genetically heterogeneous neurodegenerative disorders. The defect responsible for SCA3/Machado‐Joseph disease (MJD) hasExpand
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Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
Seventy‐seven families with autosomal dominant cerebellar ataxia were analyzed for the CAG repeat expansions causing spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The SCA1 mutation accounted forExpand
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Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique
A polymorphic microsatellite (Y-27H39) based on a (GATA)n repeat was recently discovered on the short arm of the human Y chromosome. We have used a simple technique based on polymerase chain reactionExpand
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Alternative Reproductive Tactics and Reproductive Success in Male Rhesus Macaques
Male rhesus macaques on Cayo Santiago use rank-dependent alternative reproductive tactics. High-ranking males can form long-term consorts and guard female mates while low-ranking males frequentlyExpand
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