"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). (Q46694099)

24 December 2017

title

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). (English)

1 reference

24 December 2017

1 reference

4

1 reference

24 December 2017

Ludger Schöls

1

object named as

Ludger Schöls

1 reference

24 December 2017

Rebecca Schüle

3

object named as

Rebecca Schüle

1 reference

24 December 2017

Dagmar Timmann

5

object named as

Dagmar Timmann

1 reference

24 December 2017

author name string

Larissa Arning

2

1 reference

24 December 2017

publication date

20 March 2008

1 reference

24 December 2017

published in

Journal of Neurology

1 reference

24 December 2017

volume

255

1 reference

24 December 2017

issue

4

1 reference

24 December 2017

page(s)

495-501

1 reference

24 December 2017

https://scigraph.springernature.com/pub.10.1007/s00415-008-0707-z

exact match

0 references

cites work

ATM signaling and genomic stability in response to DNA damage

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-008-0707-Z

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

21 January 2018

1 reference

12 December 2020

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

1 reference

12 December 2020

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

1 reference

12 December 2020

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

12 December 2020

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

1 reference

12 December 2020

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

1 reference

12 December 2020

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

1 reference

12 December 2020

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

1 reference

12 December 2020

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

1 reference

12 December 2020

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

12 December 2020

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

1 reference

12 December 2020

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

1 reference

12 December 2020

Dermatofibrosarcoma protuberans

1 reference

12 December 2020

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

1 reference

12 December 2020

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder

1 reference

12 December 2020

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

1 reference

12 December 2020

DExD/H box RNA helicases: from generic motors to specific dissociation functions

1 reference

12 December 2020

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

1 reference

12 December 2020

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals

1 reference

12 December 2020

1 reference

12 December 2020

Spinocerebellar ataxia with ocular motor apraxia and DNA repair.

1 reference

12 December 2020

Splenic marginal zone lymphoma: proposal of new diagnostic and prognostic markers identified after tissue and cDNA microarray analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

12 December 2020

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00415-008-0707-Z

Identifiers

DOI

1 reference

24 December 2017

1 reference

24 December 2017