249 related articles for article (PubMed ID: 27102849)
1. 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]
2. 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]
3. AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K; Barnicoat A; Offiah AC; Calder AD; Mankad K; Thomas NS; Bunyan DJ; Williams M; Buxton C; Majumdar A; Vijayakumar K; Hilliard T; Turner J; Burren CP; Monsell F; Smithson SF
Am J Med Genet A; 2021 Apr; 185(4):1228-1235. PubMed ID: 33439541
[TBL] [Abstract][Full Text] [Related]
4. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Moosa S; Haagerup A; Gregersen PA; Petersen KK; Altmüller J; Thiele H; Nürnberg P; Cho TJ; Kim OH; Nishimura G; Wollnik B; Vogel I
Am J Med Genet A; 2017 Apr; 173(4):1102-1108. PubMed ID: 28328135
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E; Piekutowska-Abramczuk D; Ciara E; Trubicka J; Rokicki D; Karkucińska-Więckowska A; Pajdowska M; Jurkiewicz E; Halat P; Kosińska J; Pollak A; Rydzanicz M; Stawinski P; Pronicki M; Krajewska-Walasek M; Płoski R
J Transl Med; 2016 Jun; 14(1):174. PubMed ID: 27290639
[TBL] [Abstract][Full Text] [Related]
11. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E; Alfaiz A; Gorna M; Bertola D; Chae JH; Cho TJ; Derbent M; Alanay Y; Guran T; Kim OH; Llerenar JC; Yamamoto G; Superti-Furga G; Reymond A; Xenarios I; Stevenson B; Campos-Xavier B; Bonafé L; Superti-Furga A; Unger S
Am J Med Genet A; 2015 Jul; 167(7):1501-9. PubMed ID: 25808063
[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. 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]
14. 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]
15. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho SY; Bae JS; Kim NKD; Forzano F; Girisha KM; Baldo C; Faravelli F; Cho TJ; Kim D; Lee KY; Ikegawa S; Shim JS; Ko AR; Miyake N; Nishimura G; Superti-Furga A; Spranger J; Kim OH; Park WY; Jin DK
Am J Hum Genet; 2016 Jun; 98(6):1243-1248. PubMed ID: 27236923
[TBL] [Abstract][Full Text] [Related]
16. Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.
Berger I; Ben-Neriah Z; Dor-Wolman T; Shaag A; Saada A; Zenvirt S; Raas-Rothschild A; Nadjari M; Kaestner KH; Elpeleg O
Mol Genet Metab; 2011 Dec; 104(4):517-20. PubMed ID: 22019070
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Grosch M; Grüner B; Spranger S; Stütz AM; Rausch T; Korbel JO; Seelow D; Nürnberg P; Sticht H; Lausch E; Zabel B; Winterpacht A; Tagariello A
Matrix Biol; 2013; 32(7-8):387-92. PubMed ID: 23665482
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
