(Q41883130)

13 October 2017

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability (English)

1 reference

13 October 2017

1 reference

1 reference

Esther Leshinsky-Silver

series ordinal

2

object named as

Esther Leshinsky-Silver

0 references

Tally Lerman-Sagie

series ordinal

5

object named as

Tally Lerman-Sagie

1 reference

13 October 2017

6

Dorit Lev

1 reference

13 October 2017

3

Ayelet Zerem

1 reference

13 October 2017

Lubov Blumkin

1

1 reference

13 October 2017

Keren Yosovich

series ordinal

4

1 reference

13 October 2017

19 September 2013

1 reference

Journal of Inherited Metabolic Disorders Reports

13 October 2017

1 reference

13 October 2017

12

1 reference

13 October 2017

103-107

1 reference

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Primary and secondary CoQ(10) deficiencies in humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

5 June 2018

Mitochondrial ataxias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Cerebellar ataxia and coenzyme Q10 deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Cerebellar involvement in metabolic disorders: a pattern-recognition approach

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Genetic disorders and cerebellar structural abnormalities in childhood

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Posterior fossa imaging in 158 children with ataxia.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Progression despite replacement of a myopathic form of coenzyme Q10 defect

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3897800

2 December 2018

Identifiers

DOI

10.1007/8904_2013_251

0 references

1 reference

13 October 2017

PubMed publication ID

24048965

1 reference