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distal hereditary motor neuropathy相关文献:
Distal hereditary motor neuropathies.
Tazir M, Nouioua S.
Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3.
PMID:38702287
Charcot-Marie-Tooth Hereditary Neuropathy Overview.
Bird TD.
1998 Sep 28 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301532
[Distal hereditary motor neuropathy].
Devic P, Petiot P.
Rev Neurol (Paris). 2011 Nov;167(11):781-90. doi: 10.1016/j.neurol.2011.03.003. Epub 2011 May 6.
PMID:21529868
Differentiating lower motor neuron syndromes.
Garg N, Park SB, Vucic S, Yiannikas C, Spies J, Howells J, Huynh W, Matamala JM, Krishnan AV, Pollard JD, Cornblath DR, Reilly MM, Kiernan MC.
J Neurol Neurosurg Psychiatry. 2017 Jun;88(6):474-483. doi: 10.1136/jnnp-2016-313526. Epub 2016 Dec 21.
PMID:28003344
Broadening the genetic spectrum of distal hereditary motor neuropathy.
Rossor AM.
Eur J Neurol. 2021 Apr;28(4):1104-1105. doi: 10.1111/ene.14734. Epub 2021 Feb 1.
PMID:33449405
Hereditary motor neuropathies.
Frasquet M, Sevilla T.
Curr Opin Neurol. 2022 Oct 1;35(5):562-570. doi: 10.1097/WCO.0000000000001087. Epub 2022 Aug 8.
PMID:35942667
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.
Brain. 2023 May 2;146(5):e27-e30. doi: 10.1093/brain/awad040.
PMID:36758993
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.
Desbats MA, Salviati L.
Brain. 2023 Oct 3;146(10):3958-3959. doi: 10.1093/brain/awad302.
PMID:37671546
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Jacquier A, Theuriet J, Ribault S, Lacoste N, Pegat A, Latour P, Schaeffer L.
Brain. 2023 May 2;146(5):e31-e32. doi: 10.1093/brain/awad041.
PMID:36759155
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.
Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453.
PMID:36454683
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