(Q51819259)

15 June 2018

title

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. (English)

1 reference

15 June 2018

autosomal recessive cerebellar ataxia

main subject

0 references

Steven Clipman

12

0 references

Giovanni Stevanin

Giovanni Stevanin

17

0 references

Alexandra Durr

19

Alexandra Durr

1 reference

15 June 2018

20

Andrew B Singleton

1 reference

15 June 2018

15

Alexis Brice

1 reference

15 June 2018

10

Dena G Hernandez

1 reference

15 June 2018

Perrine Charles

5

Perrine Charles

1 reference

15 June 2018

Fanny Mochel

3

Fanny Mochel

1 reference

15 June 2018

Marie Coutelier

6

Marie Coutelier

1 reference

15 June 2018

Sampath Arepalli

8

Sampath K Arepalli

1 reference

15 June 2018

J Raphael Gibbs

7

J Raphael Gibbs

1 reference

15 June 2018

Monia Hammer

1

Monia B Hammer

1 reference

15 June 2018

R Amouri

18

Rim Amouri

1 reference

15 June 2018

Faycal Hentati

16

Faycal Hentati

1 reference

15 June 2018

Jinhui Ding

2

Jinhui Ding

1 reference

15 June 2018

Elisa Majounie

11

Elisa Majounie

1 reference

15 June 2018

Ghada Eleuch-Fayache

4

Ghada Eleuch-Fayache

1 reference

15 June 2018

13

Yosr Bouhlal

1 reference

15 June 2018

14

Houda Nehdi

1 reference

15 June 2018

Sean B Chong

9

1 reference

15 June 2018

publication date

31 May 2017

1 reference

15 June 2018

Neurodegenerative Diseases

published in

1 reference

15 June 2018

volume

17

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15 June 2018

issue

4-5

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15 June 2018

page(s)

208-212

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15 June 2018

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Mitochondrial uncoupling protein 2 structure determined by NMR molecular fragment searching

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Integrative genomics viewer

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Fast and accurate short read alignment with Burrows-Wheeler transform

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5540751

16 June 2018

Identifiers

DOI

10.1159/000464445

1 reference

15 June 2018

PMCID

5540751

1 reference

15 June 2018

PubMed ID

28558379

1 reference

15 June 2018