Spectrin mutations cause spinocerebellar ataxia type 5. (Q34486967)

2 August 2017

Spectrin mutations cause spinocerebellar ataxia type 5. (English)

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2 August 2017

spinocerebellar ataxia

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12

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Christine Zühlke

9

Christine Zühlke

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Karen R Armbrust

Karen R Armbrust

5

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Giovanni Stevanin

Giovanni Stevanin

7

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Alexandra Durr

8

Alexandra Dürr

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2 August 2017

10

Katrin Bürk

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Jeffrey D Rothstein

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16

Laura P W Ranum

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2 August 2017

Yoshio Ikeda

1

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2 August 2017

Katherine A Dick

2

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2 August 2017

Marcy R Weatherspoon

3

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2 August 2017

Dan Gincel

4

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Joline C Dalton

6

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H Brent Clark

11

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Lawrence J Schut

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John W Day

15

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language of work or name

English

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publication date

22 January 2006

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2 August 2017

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38

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184-190

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2

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https://scigraph.springernature.com/pub.10.1038/ng1728

2 August 2017

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cites work

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

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Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

21 January 2018

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Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

21 January 2018

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Characterization of a new beta-spectrin gene which is predominantly expressed in brain.

21 January 2018

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A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles

21 January 2018

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beta III spectrin binds to the Arp1 subunit of dynactin

21 January 2018

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Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice

21 January 2018

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Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins

21 January 2018

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

21 January 2018

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Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

21 January 2018

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Coexistence and function of different neurotransmitter transporters in the plasma membrane of CNS neurons.

21 January 2018

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Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher.

21 January 2018

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Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene.

21 January 2018

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Mutant dynactin in motor neuron disease.

21 January 2018

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Mutations in dynein link motor neuron degeneration to defects in retrograde transport

21 January 2018

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Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules

21 January 2018

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Axonopathy and transport deficits early in the pathogenesis of Alzheimer's disease

21 January 2018

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Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

21 January 2018

1 reference

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

21 January 2018

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Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

21 January 2018

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RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways

21 January 2018

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The defect in Marfan syndrome

21 January 2018

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Monoallelic mutation analysis (MAMA) for identifying germline mutations

21 January 2018

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Consed: a graphical tool for sequence finishing

21 January 2018

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Biochemical and morphological characterization of an intracellular membrane compartment containing AMPA receptors.

21 January 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

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Clinical and MRI findings in spinocerebellar ataxia type 5

21 January 2018

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21 January 2018

Identifiers

DOI

10.1038/NG1728

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2 August 2017

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