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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 51"
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GCH1 mutations in hereditary spastic paraplegia.
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Clin Genet. 2021 Jul;100(1):51-58. doi: 10.1111/cge.13955. Epub 2021 Mar 18. Clin Genet. 2021. PMID: 33713342
Recently, GCH1 mutations have been reported in five patients with hereditary spastic paraplegia (HSP). Here, we analyzed a total of 400 HSP patients (291 families) from different centers across Canada by whole exome sequencing (WES). ...(Ser77_Leu82del) varia …
Recently, GCH1 mutations have been reported in five patients with hereditary spastic paraplegia (HSP). Here, we analyze …
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X, Madireddy L, Caillier S, Santaniello A, Esposito F, Comi G, Stuve O, Zhou Y, Taylor B, Kilpatrick T, Martinelli-Boneschi F, Cree BAC, Oksenberg JR, Hauser SL, Baranzini SE. Jia X, et al. Ann Neurol. 2018 Jul;84(1):51-63. doi: 10.1002/ana.25263. Epub 2018 Jul 3. Ann Neurol. 2018. PMID: 29908077 Free PMC article.
To refine our findings, we examined the burden of rare, potentially pathogenic mutations in 41 genes that cause hereditary spastic paraplegias (HSPs) in PPMS (n = 314), secondary progressive multiple sclerosis (SPMS; n = 587), RMS (n = 2,248), and healthy subjects ( …
To refine our findings, we examined the burden of rare, potentially pathogenic mutations in 41 genes that cause hereditary spastic …
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
Durand CM, Angelini C, Michaud V, Delleci C, Coupry I, Goizet C, Trimouille A. Durand CM, et al. BMC Neurol. 2022 Feb 12;22(1):53. doi: 10.1186/s12883-022-02553-0. BMC Neurol. 2022. PMID: 35151251 Free PMC article.
CONCLUSIONS: Our findings confirmed implication of VPS13D in spastic ataxia and provided further support for mitochondrial defects in patient's skin fibroblasts with VPS13D variants. This report of long-term follow up showed a slowly progressive course of the spa …
CONCLUSIONS: Our findings confirmed implication of VPS13D in spastic ataxia and provided further support for mitochondrial defects in …
Identification and characterization of AFG3L2, a novel paraplegin-related gene.
Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B. Banfi S, et al. Genomics. 1999 Jul 1;59(1):51-8. doi: 10.1006/geno.1999.5818. Genomics. 1999. PMID: 10395799
We recently identified a gene responsible for an autosomal recessive form of hereditary spastic paraplegia (HSP). This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial ATPases Afg3p and Rcalp, which have both prote …
We recently identified a gene responsible for an autosomal recessive form of hereditary spastic paraplegia (HSP). This …
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
Zhang X, Xiang F, Li D, Yang F, Yu S, Wang X. Zhang X, et al. BMC Neurol. 2024 Jan 2;24(1):15. doi: 10.1186/s12883-023-03480-4. BMC Neurol. 2024. PMID: 38166857 Free PMC article. Review.
Since the first case was reported in 2012, an increasing number of FARS2 variations have been subsequently identified, which present three main phenotypic manifestations: early onset epileptic encephalopathy, hereditary spastic paraplegia, and juvenile-onset …
Since the first case was reported in 2012, an increasing number of FARS2 variations have been subsequently identified, which present three m …