(Q48424286)

11 February 2018

title

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. (English)

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11 February 2018

author

Karsten Suhre

11

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Tawfeg Ben-Omran

3

object named as

Tawfeg Ben-Omran

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11 February 2018

author name string

Mahmoud Fawzi Elsaid

1

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Nader Chalhoub

2

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Pankaj Kumar

4

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Hussein Kamel

5

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11 February 2018

Khalid Ibrahim

6

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Yasmin Mohamoud

7

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Eman Al-Dous

8

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Iman Al-Azwani

9

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Joel A Malek

10

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M Elizabeth Ross

12

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Alice Abdel Aleem

13

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11 February 2018

publication date

18 November 2016

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11 February 2018

published in

Annals of Neurology

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11 February 2018

volume

81

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issue

1

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page(s)

68-78

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11 February 2018

Other autosomal recessive and childhood ataxias

cites work

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Friedreich's ataxia: from disease mechanisms to therapeutic interventions

21 January 2018

1 reference

ATM: genome stability, neuronal development, and cancer cross paths

21 January 2018

1 reference

The autosomal recessive cerebellar ataxias

21 January 2018

1 reference

Prevalence of ataxia in children: a systematic review

21 January 2018

1 reference

U12DB: a database of orthologous U12-type spliceosomal introns

21 January 2018

1 reference

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

21 January 2018

1 reference

Differential analysis of gene regulation at transcript resolution with RNA-seq

21 January 2018

1 reference

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

21 January 2018

1 reference

New connections between splicing and human disease

21 January 2018

1 reference

The spliceosome: design principles of a dynamic RNP machine

21 January 2018

1 reference

Henry Kunkel, Stephanie Smith, clinical immunology, and split genes

21 January 2018

1 reference

Functionally important structural elements of U12 snRNA

21 January 2018

1 reference

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

21 January 2018

1 reference

Cyclin F-mediated degradation of ribonucleotide reductase M2 controls genome integrity and DNA repair

21 January 2018

1 reference

Dysregulation of core components of SCF complex in poly-glutamine disorders

21 January 2018

1 reference

Identification of a mitochondrial Na+/H+ exchanger

21 January 2018

1 reference

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 January 2018

1 reference

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

21 January 2018

1 reference

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

21 January 2018

1 reference

Mutations in KCND3 cause spinocerebellar ataxia type 22.

21 January 2018

1 reference

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration

21 January 2018

1 reference

Splicing segregation: the minor spliceosome acts outside the nucleus and controls cell proliferation

21 January 2018

1 reference

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

21 January 2018

1 reference

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 January 2018

1 reference

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

21 January 2018

1 reference

An SMN-dependent U12 splicing event essential for motor circuit function

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24826

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11 February 2018

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11 February 2018