Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
PubMed (cited) for id: 620402
4 results
Filters applied: . Clear all
Page 1
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22.
Mol Genet Metab. 2023.
PMID: 37392700
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC, Pileggi CA, Wang Y, Kernohan K, Hartley T, McMillan HJ, Sampaio ML, Melkus G, Woulfe J, Parmar G, Bourque PR, Breiner A, Zwicker J, Pringle CE, Jarinova O, Lochmüller H, Dyment DA, Brais B, Boycott KM; Care4Rare Canada Consortium,; Hekimi S, Harper ME, Warman-Chardon J.
Smith IC, et al.
Neurol Genet. 2023 Jan 25;9(1):e200048. doi: 10.1212/NXG.0000000000200048. eCollection 2023 Feb.
Neurol Genet. 2023.
PMID: 37077559
Free PMC article.
Item in Clipboard
Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Liu XX, Wang N, Chen YK, Lv WQ, Hong JM, Xu GR, Zhou LY, Chen WJ, Fan DS, He J.
Liu XX, et al.
Brain. 2023 May 2;146(5):e27-e30. doi: 10.1093/brain/awad040.
Brain. 2023.
PMID: 36758993
No abstract available.
Item in Clipboard
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, Schaeffer L.
Jacquier A, et al.
Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453.
Brain. 2023.
PMID: 36454683
Free PMC article.
Item in Clipboard
Cite
Cite