Clinical neurogenetics: autosomal dominant spinocerebellar ataxia - Wikidata - awgldk - TriplyDB

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2 The neurogenetics of atypical parkinsonian disorders Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Decreasing fall risk in spinocerebellar ataxia.Prevalence of spinocerebellar ataxia 36 in a US population.The need to develop a patient-centered precision medicine model for adults with chronic disability.Microstructural Alterations in Asymptomatic and Symptomatic Patients with Spinocerebellar Ataxia Type 3: A Tract-Based Spatial Statistics Study.PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research.Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2.Expanding the global prevalence of spinocerebellar ataxia type 42.

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Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

http://www.wikidata.org/entity/Q37283126

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 30 July 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

@en

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

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type

label

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

@en

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

@nl

prefLabel

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

@en

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

@nl

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J.NCL.2013.04.006

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Neurologic Clinics

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Clinical neurogenetics: autosomal dominant spinocerebellar ataxia

@en

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Brent L Fogel

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Vikram G Shakkottai

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

Second consensus statement on the diagnosis of multiple system atrophy

Sequencing technologies - the next generation

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Consensus paper: roles of the cerebellum in motor control--the diversity of ideas on cerebellar involvement in movement.

Sporadic ataxia with adult onset: classification and diagnostic criteria.

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

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987-1007

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scholarly article

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10.1016/J.NCL.2013.04.006

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4

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31

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2013-07-30T00:00:00Z

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24176420

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3818725

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