نتایج جستجو برای: spinocerebellar degenerations

تعداد نتایج: 4266  

Journal: :Communications in Mathematical Physics 2010

2008
Stephan Tillmann

Let M be the interior of a compact, orientable 3–manifold with non-empty boundary a disjoint union of tori, and T be an ideal triangulation of M . The affine algebraic set D(M ; T ), a subset of which parameterises (incomplete) hyperbolic structures obtained on M using T , is defined and compactified by adding projective classes of transversely measured singular codimension–one foliations of (M...

2008
MARK GREEN PHILLIP GRIFFITHS Roy Smith

Introduction Part I: Hodge-theoretic analysis I.A. Notations and general background Review of material from [GGK] I.B. Integral symplectic linear algebra background I.C. Analysis of the LMHS in the three cases Part II. Boundary component structure II.A. Review of material from [KU] II.B. Boundary component structure for degenerations of Hodge structure of mirror quintic type Part III: Geometric...

Journal: :JAMA neurology 2013
Sirinan Tazen Karla Figueroa Justin Y Kwan Jill Goldman Ann Hunt Jacinda Sampson Laurie Gutmann Stefan M Pulst Hiroshi Mitsumoto Sheng-Han Kuo

IMPORTANCE A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described. OBSERVATIONS Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia an...

Journal: :International physical medicine & rehabilitation journal 2022

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literat...

2013
Pontus Geborek Anton Spanne Fredrik Bengtsson Henrik Jörntell

Spinocerebellar systems are likely to be crucial for cerebellar hallmark functions such as coordination. However, in terms of cerebellar functional analyses, these are perhaps among the least explored systems. The aim of the present study is to achieve activation of a single component of the spinocerebellar systems and to explore to what extent it can influence the spike output of granule cells...

Journal: :Arquivos de neuro-psiquiatria 2009
Hélio A G Teive

UNLABELLED Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE To carry out a clinical and genetic...

Journal: :ANNALI SCUOLA NORMALE SUPERIORE - CLASSE DI SCIENZE 2009

Journal: :Journal of Comparative Pathology and Therapeutics 1891

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