(Q48616578)

English

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.

scientific article published on 14 May 2009

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scholarly article

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

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. (English)

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

0 references

cerebellar ataxia

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based on heuristic

inferred from title

1

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

Dominique Stoppa-Lyonnet

13

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D Stoppa-Lyonnet

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Europe PubMed Central

PubMed publication ID

13 February 2018

author name string

M Fleury

2

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

B Monga

3

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

V Laugel

4

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13 February 2018

http://europepmc.org/abstract/MED/19440741

D Chaigne

5

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Europe PubMed Central

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13 February 2018

http://europepmc.org/abstract/MED/19440741

G Rodier

6

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Europe PubMed Central

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13 February 2018

http://europepmc.org/abstract/MED/19440741

E Ginglinger

7

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13 February 2018

http://europepmc.org/abstract/MED/19440741

C Boulay

8

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http://europepmc.org/abstract/MED/19440741

S Courtois

9

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13 February 2018

http://europepmc.org/abstract/MED/19440741

N Drouot

10

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13 February 2018

http://europepmc.org/abstract/MED/19440741

M Fritsch

11

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http://europepmc.org/abstract/MED/19440741

J P Delaunoy

12

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13 February 2018

http://europepmc.org/abstract/MED/19440741

C Tranchant

14

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13 February 2018

http://europepmc.org/abstract/MED/19440741

M Koenig

15

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

publication date

14 May 2009

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

11

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

1

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

1-12

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Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

https://scigraph.springernature.com/pub.10.1007/s10048-009-0196-y

0 references

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability of aprataxin gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular insights into Friedreich's ataxia and antioxidant-based therapies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New autosomal recessive cerebellar ataxias with oculomotor apraxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a SACS gene missense mutation in ARSACS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The incidence and gene frequency of ataxia-telangiectasia in the United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Friedreich ataxia: a paradigm for mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of inherited ataxias in the province of Padua, Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Magnetic resonance imaging in hereditary and idiopathic ataxia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical heterogeneity of recessive ataxia in the Mexican population

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usefulness of the Scale for Assessment and Rating of Ataxia (SARA).

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in SACS gene in a family from southern Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar ataxia in the eastern and southern parts of Norway

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The wide spectrum of spinocerebellar ataxias (SCAs)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare forms of autosomal recessive neurodegenerative ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Hereditary ataxias-overview]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-strand break repair and genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ataxia-telangiectasia, an evolving phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19440741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-009-0196-Y

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 February 2018

http://europepmc.org/abstract/MED/19440741

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