New autosomal recessive cerebellar ataxias with oculomotor apraxia (Q36244602)

13 August 2017

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title

New autosomal recessive cerebellar ataxias with oculomotor apraxia (English)

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13 August 2017

2

Alexis Brice

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Alexandra Durr

series ordinal

3

object named as

Alexandra Dürr

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13 August 2017

1

Isabelle Le Ber

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13 August 2017

publication date

1 September 2005

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Current Neurology and Neuroscience Reports

13 August 2017

published in

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13 August 2017

volume

5

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13 August 2017

issue

5

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13 August 2017

page(s)

411-417

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Aprataxin gene mutations in Tunisian families

13 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007/S11910-005-0066-4

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

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007/S11910-005-0066-4

Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation

21 January 2018

1 reference

12 December 2020

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

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12 December 2020

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34

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12 December 2020

Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3

1 reference

12 December 2020

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

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12 December 2020

Phenotypic variability of aprataxin gene mutations

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12 December 2020

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

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12 December 2020

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

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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

Loss of function mechanism in aprataxin-related early-onset ataxia

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12 December 2020

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein

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12 December 2020

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients

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12 December 2020

A type of congenital ocular motor apraxia presenting jerky head movements

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12 December 2020

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

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12 December 2020

Clinical and genetic abnormalities in patients with Friedreich's ataxia

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12 December 2020

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

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12 December 2020

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

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12 December 2020

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

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12 December 2020

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

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12 December 2020

Ataxia without telangiectasia masquerading as benign hereditary chorea

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12 December 2020

XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair

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12 December 2020

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

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12 December 2020

Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia

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12 December 2020

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.

1 reference

12 December 2020

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

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12 December 2020

ATM and ataxia telangiectasia

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12 December 2020

Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases

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12 December 2020

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

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12 December 2020

The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4

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12 December 2020

[Siblings of early onset cerebellar ataxia with hypoalbuminemia]

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12 December 2020

Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

The FHA domain of aprataxin interacts with the C-terminal region of XRCC1

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical, crystallographic, and mutagenic characterization of hint, the AMP-lysine hydrolase, with novel substrates and inhibitors

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12 December 2020

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

1 reference

12 December 2020

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

1 reference

12 December 2020

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

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12 December 2020

Identification of nucleolin and nucleophosmin as genotoxic stress-responsive RNA-binding proteins

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12 December 2020

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects

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12 December 2020

Aprataxin, a novel protein that protects against genotoxic stress

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12 December 2020

Ataxia-telangiectasia, an evolving phenotype

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12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

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12 December 2020

Familial early onset cerebellar ataxia with hypoalbuminemia

1 reference

12 December 2020

10.1007/S11910-005-0066-4

Identifiers

DOI

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13 August 2017

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