ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease-Reference-Cited by-同舟云学术

ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease

Published:2018-10-09 Issue:6 Volume:5 Page:635-639
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Chang Anna¹²,Ruiz‐Lopez Marta¹,Slow Elizabeth¹,Tarnopolsky Mark³,Lang Anthony E.¹,Munhoz Renato P¹

Affiliation:

1. Morton and Gloria Shulman Movement Disorders Clinic, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, UHN, Division of NeurologyUniversity of TorontoTorontoOntarioCanada

2. Department of NeurologyShin Kong Wu Ho‐Su Memorial HospitalTaipeiTaiwan

3. Department of Pediatrics and Neuromuscular and Neurometabolic ClinicMcMaster University Medical CenterHamiltonOntarioCanada

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.12667

Reference10 articles.

1. Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation

2. Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

3. Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

4. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

5. CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Primary Coenzyme Q10 Deficiency-Related Ataxias;Journal of Clinical Medicine;2024-04-19

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. Primary Coenzyme Q10 Deficiency‐4 Causing Young Onset Ataxia‐Dystonia;Movement Disorders Clinical Practice;2023-12-17

5. Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum;Parkinsonism & Related Disorders;2023-12