Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3-Reference-Cited by-同舟云学术

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Cerebellar ataxia and severe muscle CoQ10deficiency in a patient with a novel mutation inADCK3

Published:2016-02-16 Issue:2 Volume:90 Page:156-160
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Barca E.¹²,Musumeci O.²³,Montagnese F.²,Marino S.³⁴,Granata F.⁴,Nunnari D.³,Peverelli L.¹,DiMauro S.¹,Quinzii C.M.¹,Toscano A.²³

Affiliation:

1. Department of Neurology; Columbia University Medical Center; New York NY USA

2. Department of Clinical and Experimental Medicine; University of Messina; Messina Italy

3. IRCCS Centro Neurolesi “Bonino Pulejo”; Messina Italy

4. Department of Biomedical Sciences and Morphological and Functional Imaging; University of Messina; Messina Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. The autosomal recessive cerebellar ataxias;Anheim;N Engl J Med,2012

2. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency;Lagier-Tourenne;Am J Hum Genet,2008

3. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3;Horvath;J Neurol Neurosurg Psychiatry,2012

4. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures;Mollet;Am J Hum Genet,2008

5. Spinocerebellar ataxia: a rational approach to aetiological diagnosis;Degardin;Cerebellum,2012

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1. Understanding coenzyme Q;Physiological Reviews;2024-10-01

2. Identification of Potent ADCK3 Inhibitors through Structure-Based Virtual Screening;Journal of Chemical Information and Modeling;2024-07-18

3. Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures;The Cerebellum;2024-03-02

4. A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population;Neurological Sciences;2023-03-01

5. Coenzyme Q10 Metabolism: A Review of Unresolved Issues;International Journal of Molecular Sciences;2023-01-30

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