Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion-Reference-Cited by-同舟云学术

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Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion

Published:2023-06 Issue:3 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Haji Shotaro¹^ORCID,Miyamoto Ryosuke¹^ORCID,Morino Hiroyuki¹^ORCID,Osaki Yusuke¹^ORCID,Tsuji Seijiro¹,Nishino Ichizo¹^ORCID,Abe Masahiro¹^ORCID,Izumi Yuishin¹^ORCID

Affiliation:

1. From the Department of Neurology (S.H., R.M., Y.O., Y.I.), Tokushima University Graduate School of Biomedical Sciences; Department of Clinical Neuroscience and Therapeutics (H.M.), Graduate School of Biomedical and Health Sciences; Department of Hematology (S.T., M.A.), Endocrinology and Metabolism, Tokushima University Graduate School of Biomedical Sciences; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Centre of Neurology and Psychiatry; and Department...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200070

Reference6 articles.

1. Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia

2. ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

3. Hypophosphatemia promotes lower rates of muscle ATP synthesis

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

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