These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
132 related articles for article (PubMed ID: 37173762)
1. Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome. Wang C; Lin Z; Yuan Z; Tang T; Fan L; Liu Y; Wu X Hereditas; 2023 May; 160(1):22. PubMed ID: 37173762 [TBL] [Abstract][Full Text] [Related]
2. A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4. Wang B; Li X; Wang J; Liu L; Xie Y; Huang S; Pakhrin PS; Jin Q; Zhu C; Tang B; Niu Q; Zhang R Neuromuscul Disord; 2018 Aug; 28(8):652-659. PubMed ID: 30031633 [TBL] [Abstract][Full Text] [Related]
3. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Rinaldi C; Grunseich C; Sevrioukova IF; Schindler A; Horkayne-Szakaly I; Lamperti C; Landouré G; Kennerson ML; Burnett BG; Bönnemann C; Biesecker LG; Ghezzi D; Zeviani M; Fischbeck KH Am J Hum Genet; 2012 Dec; 91(6):1095-102. PubMed ID: 23217327 [TBL] [Abstract][Full Text] [Related]
4. Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness. Bogdanova-Mihaylova P; Alexander MD; Murphy RP; Chen H; Healy DG; Walsh RA; Murphy SM J Peripher Nerv Syst; 2019 Dec; 24(4):348-353. PubMed ID: 31523922 [TBL] [Abstract][Full Text] [Related]
5. Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series. Tunyi J; Abreu NJ; Tripathi R; Mathew MT; Mears A; Agrawal P; Thakur V; Rezai AR; Reyes EL Pediatr Neurol; 2023 May; 142():47-50. PubMed ID: 36907087 [TBL] [Abstract][Full Text] [Related]
6. A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. Hu B; Wang M; Castoro R; Simmons M; Dortch R; Yawn R; Li J Eur J Neurol; 2017 Dec; 24(12):1499-1506. PubMed ID: 28888069 [TBL] [Abstract][Full Text] [Related]
8. A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. Li M; Yin M; Yang L; Chen Z; Du P; Sun L; Chen J Mol Genet Genomic Med; 2023 Mar; 11(3):e2108. PubMed ID: 36394156 [TBL] [Abstract][Full Text] [Related]
9. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. Mierzewska H; Rydzanicz M; Biegański T; Kosinska J; Mierzewska-Schmidt M; Ługowska A; Pollak A; Stawiński P; Walczak A; Kędra A; Obersztyn E; Szczepanik E; Płoski R Clin Genet; 2017 Jan; 91(1):30-37. PubMed ID: 27102849 [TBL] [Abstract][Full Text] [Related]
10. Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2. Bian X; Lin P; Li J; Long F; Duan R; Yuan Q; Li Y; Gao F; Gao S; Wei S; Li X; Sun W; Gong Y; Yan C; Liu Q Neurodegener Dis; 2018; 18(2-3):74-83. PubMed ID: 29587262 [TBL] [Abstract][Full Text] [Related]
11. A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree. Liu Y; Xue J; Li Z; Linpeng S; Tan H; Teng Y; Liang D; Wu L Mol Genet Genomic Med; 2020 Mar; 8(3):e1127. PubMed ID: 31943912 [TBL] [Abstract][Full Text] [Related]
12. A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. Diodato D; Tasca G; Verrigni D; D'Amico A; Rizza T; Tozzi G; Martinelli D; Verardo M; Invernizzi F; Nasca A; Bellacchio E; Ghezzi D; Piemonte F; Dionisi-Vici C; Carrozzo R; Bertini E Eur J Hum Genet; 2016 Mar; 24(3):463-6. PubMed ID: 26173962 [TBL] [Abstract][Full Text] [Related]
13. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829 [TBL] [Abstract][Full Text] [Related]
15. A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Grosz BR; Parmar JM; Ellis M; Bryen S; Simons C; Reis ALM; Stevanovski I; Deveson IW; Nicholson G; Laing N; Wallis M; Ravenscroft G; Kumar KR; Vucic S; Kennerson ML J Peripher Nerv Syst; 2024 Jun; 29(2):262-274. PubMed ID: 38860315 [TBL] [Abstract][Full Text] [Related]
16. Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report. Patra P Neurol India; 2024 Sep; 72(5):1081-1083. PubMed ID: 39428786 [TBL] [Abstract][Full Text] [Related]
17. Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease. Yang Q; Xiao X; Yuan Z; Jiao B; Liao X; Du J J Clin Neurosci; 2020 Mar; 73():311-313. PubMed ID: 31987637 [TBL] [Abstract][Full Text] [Related]
18. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Sevilla T; Lupo V; Martínez-Rubio D; Sancho P; Sivera R; Chumillas MJ; García-Romero M; Pascual-Pascual SI; Muelas N; Dopazo J; Vílchez JJ; Palau F; Espinós C Brain; 2016 Jan; 139(Pt 1):62-72. PubMed ID: 26497905 [TBL] [Abstract][Full Text] [Related]
19. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Montenegro G; Powell E; Huang J; Speziani F; Edwards YJ; Beecham G; Hulme W; Siskind C; Vance J; Shy M; Züchner S Ann Neurol; 2011 Mar; 69(3):464-70. PubMed ID: 21254193 [TBL] [Abstract][Full Text] [Related]
20. Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family. Elrharchi S; Riahi Z; Salime S; Charoute H; Elkhattabi L; Boulouiz R; Kabine M; Bonnet C; Petit C; Barakat A Hum Hered; 2020; 85(1):35-39. PubMed ID: 33486474 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]