152 related articles for article (PubMed ID: 28975462)
1. A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
Sancho P; Sánchez-Monteagudo A; Collado A; Marco-Marín C; Domínguez-González C; Camacho A; Knecht E; Espinós C; Lupo V
Neurogenetics; 2017 Dec; 18(4):245-250. PubMed ID: 28975462
[TBL] [Abstract][Full Text] [Related]
2. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked
Moss T; May M; Flanagan-Steet H; Caylor R; Jiang YH; McDonald M; Friez M; McConkie-Rosell A; Steet R
Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 34117073
[TBL] [Abstract][Full Text] [Related]
3. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N; Wolf NI; Cayami FK; Crawford J; Bley A; Bulas D; Conant A; Bent SJ; Gripp KW; Hahn A; Humphray S; Kimura-Ohba S; Kingsbury Z; Lajoie BR; Lal D; Micha D; Pizzino A; Sinke RJ; Sival D; Stolte-Dijkstra I; Superti-Furga A; Ulrick N; Taft RJ; Ogata T; Ozono K; Matsumoto N; Neubauer BA; Simons C; Vanderver A
Neurogenetics; 2017 Dec; 18(4):185-194. PubMed ID: 28842795
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.
Shi T; Chen Z; Li J; Wang H; Wang Q
Hum Mol Genet; 2024 May; 33(10):905-918. PubMed ID: 38449065
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
Heimer G; Eyal E; Zhu X; Ruzzo EK; Marek-Yagel D; Sagiv D; Anikster Y; Reznik-Wolf H; Pras E; Oz Levi D; Lancet D; Ben-Zeev B; Nissenkorn A
Eur J Paediatr Neurol; 2018 Jan; 22(1):93-101. PubMed ID: 28967629
[TBL] [Abstract][Full Text] [Related]
11. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
Ghezzi D; Sevrioukova I; Invernizzi F; Lamperti C; Mora M; D'Adamo P; Novara F; Zuffardi O; Uziel G; Zeviani M
Am J Hum Genet; 2010 Apr; 86(4):639-49. PubMed ID: 20362274
[TBL] [Abstract][Full Text] [Related]
12.
Morton SU; Prabhu SP; Lidov HGW; Shi J; Anselm I; Brownstein CA; Bainbridge MN; Beggs AH; Vargas SO; Agrawal PB
Cold Spring Harb Mol Case Stud; 2017 Mar; 3(2):a001560. PubMed ID: 28299359
[TBL] [Abstract][Full Text] [Related]
13. From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig M; Schubach M; Zimmermann FA; Klinge L; Mayr JA; Biskup S; Sperl W; Gärtner J; Huppke P
Mitochondrion; 2015 Mar; 21():12-8. PubMed ID: 25583628
[TBL] [Abstract][Full Text] [Related]
14. Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.
Sevrioukova IF
J Mol Biol; 2016 Sep; 428(18):3650-65. PubMed ID: 27178839
[TBL] [Abstract][Full Text] [Related]
15. A novel
Feng SY; Li LY; Feng SM; Zou ZY
Ann Clin Transl Neurol; 2019 Feb; 6(2):401-405. PubMed ID: 30847374
[TBL] [Abstract][Full Text] [Related]
16. High Frequency of
Wang H; Bing D; Li J; Xie L; Xiong F; Lan L; Wang D; Guan J; Wang Q
Neural Plast; 2020; 2020():5625768. PubMed ID: 32684920
[TBL] [Abstract][Full Text] [Related]
17. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L; Guan J; Ealy M; Zhang Q; Wang D; Wang H; Zhao Y; Shen Z; Campbell CA; Wang F; Yang J; Sun W; Lan L; Ding D; Xie L; Qi Y; Lou X; Huang X; Shi Q; Chang S; Xiong W; Yin Z; Yu N; Zhao H; Wang J; Wang J; Salvi RJ; Petit C; Smith RJ; Wang Q
J Med Genet; 2015 Aug; 52(8):523-31. PubMed ID: 25986071
[TBL] [Abstract][Full Text] [Related]
18. Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
Bano D; Prehn JHM
EBioMedicine; 2018 Apr; 30():29-37. PubMed ID: 29605508
[TBL] [Abstract][Full Text] [Related]
19. Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.
Greenbaum L; Barel O; Nikitin V; Hersalis-Eldar A; Kol N; Reznik-Wolf H; Dominissini D; Pras E; Dori A
Muscle Nerve; 2020 Mar; 61(3):395-400. PubMed ID: 31837156
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
