(Q37350136)

19 August 2017

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression (English)

1 reference

19 August 2017

1 reference

22

Alexis Brice

0 references

Mathieu Anheim

Mathieu Anheim

27

0 references

David Devos

David Devos

6

0 references

Christine Tranchant

Christine Tranchant

25

0 references

Agnès Rötig

23

Agnès Rötig

1 reference

19 August 2017

3

Alexandra Durr

1 reference

19 August 2017

4

Charles Marques Lourenço

1 reference

19 August 2017

5

Perrine Charles

1 reference

19 August 2017

1

Cyril Mignot

1 reference

19 August 2017

18

Emmanuel Roze

1 reference

19 August 2017

14

Anne-Sophie Lebre

1 reference

19 August 2017

26

Michel Koenig

1 reference

19 August 2017

9

Nathalie Drouot

1 reference

19 August 2017

10

Lydie Burglen

1 reference

19 August 2017

Sandra Chantot-Bastaraud

13

Sandra Chantot-Bastaraud

1 reference

19 August 2017

2

Emmanuelle Apartis

1 reference

19 August 2017

Caroline Moreau

7

1 reference

19 August 2017

Pascale de Lonlay

8

1 reference

19 August 2017

Nadine Kempf

11

1 reference

19 August 2017

Elsa Nourisson

12

1 reference

19 August 2017

Marlène Rio

15

1 reference

19 August 2017

Yves Chaix

16

1 reference

19 August 2017

Eric Bieth

17

1 reference

19 August 2017

Isabelle Bonnet

19

1 reference

19 August 2017

Sandrine Canaple

20

1 reference

19 August 2017

Coralie Rastel

21

1 reference

19 August 2017

Isabelle Desguerre

24

1 reference

19 August 2017

28 October 2013

1 reference

Orphanet Journal of Rare Diseases

19 August 2017

1 reference

19 August 2017

8

1 reference

19 August 2017

173

1 reference

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Next-generation sequencing demands next-generation phenotyping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

The autosomal recessive cerebellar ataxias

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Exome sequencing: dual role as a discovery and diagnostic tool

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Clinical picture of EPM1-Unverricht-Lundborg disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Scale for the assessment and rating of ataxia: development of a new clinical scale

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Massively parallel sequencing of ataxia genes after array-based enrichment

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Progression despite replacement of a myopathic form of coenzyme Q10 defect

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843540

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-173

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24164873

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-173

1 reference

Dimensions Publication ID

19 August 2017

0 references

1 reference

19 August 2017

PubMed publication ID

24164873

1 reference