Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. (Q52709162)

6 May 2018

title

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. (English)

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6 May 2018

ataxia with oculomotor apraxia type 1

main subject

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1 reference

1 reference

Sinead Murphy

26

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Thierry Kuntzer

object named as

Thierry Kuntzer

18

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Atbin Djamshidian

22

object named as

Atbin Djamshidian

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40

Alexandra Dürr

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32

Laura Bannach Jardim

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author name string

Mathilde Renaud

1

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Maria-Céu Moreira

2

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Bondo Ben Monga

3

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Diana Rodriguez

4

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Rabab Debs

5

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Perrine Charles

6

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Malika Chaouch

7

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Farida Ferrat

8

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Chloé Laurencin

9

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Laurent Vercueil

10

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Martial Mallaret

11

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Abderrahim M'Zahem

12

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Lamia Ali Pacha

13

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Meriem Tazir

14

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Caroline Tilikete

15

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Elisabeth Ollagnon

16

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François Ochsner

17

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Hans H Jung

19

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Jean-Marie Beis

20

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Jean-Claude Netter

21

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Mattew Bower

23

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Armand Bottani

24

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Richard Walsh

25

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Thomas Reiley

27

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Éric Bieth

28

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Filip Roelens

29

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Bwee Tien Poll-The

30

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Charles Marques Lourenço

31

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Rachel Straussberg

33

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Pierre Landrieu

34

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Emmanuel Roze

35

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Stéphane Thobois

36

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Jean Pouget

37

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Claire Guissart

38

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Cyril Goizet

39

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Christine Tranchant

41

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Michel Koenig

42

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Mathieu Anheim

43

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language of work or name

English

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publication date

22 January 2018

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6 May 2018

published in

JAMA Neurology

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6 May 2018

volume

75

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6 May 2018

issue

4

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6 May 2018

page(s)

495-502

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6 May 2018

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

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1 reference

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25 August 2018

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

25 August 2018

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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

25 August 2018

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Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation

25 August 2018

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The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

25 August 2018

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Spinocerebellar ataxia with ocular motor apraxia and DNA repair.

25 August 2018

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

25 August 2018

1 reference

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Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children

25 August 2018

1 reference

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Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin

25 August 2018

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Aprataxin gene mutations in Tunisian families

25 August 2018

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Aprataxin mutations are a rare cause of early onset ataxia in Germany

25 August 2018

1 reference

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Aprataxin, a novel protein that protects against genotoxic stress

25 August 2018

1 reference

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Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation

25 August 2018

1 reference

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Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

25 August 2018

1 reference

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Phenotypic variability of aprataxin gene mutations

25 August 2018

1 reference

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations

25 August 2018

1 reference

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5933354

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5933354

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

25 August 2018

1 reference

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Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.

25 August 2018

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Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

25 August 2018

1 reference

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A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia--a variant form of Friedreich's disease or a new clinical entity?

25 August 2018

1 reference

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A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5933354

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29356829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29356829

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2017.4373

1 reference

6 May 2018

PMC publication ID

5933354

0 references

1 reference

6 May 2018