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.
226 related articles for article (PubMed ID: 28178980)
1. Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. Ołdak M; Oziębło D; Pollak A; Stępniak I; Lazniewski M; Lechowicz U; Kochanek K; Furmanek M; Tacikowska G; Plewczynski D; Wolak T; Płoski R; Skarżyński H J Transl Med; 2017 Feb; 15(1):25. PubMed ID: 28178980 [TBL] [Abstract][Full Text] [Related]
2. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. Domínguez-Ruiz M; García-Martínez A; Corral-Juan M; Pérez-Álvarez ÁI; Plasencia AM; Villamar M; Moreno-Pelayo MA; Matilla-Dueñas A; Menéndez-González M; Del Castillo I J Transl Med; 2019 Aug; 17(1):290. PubMed ID: 31455392 [TBL] [Abstract][Full Text] [Related]
3. Expanding the genotypic spectrum of Perrault syndrome. Demain LA; Urquhart JE; O'Sullivan J; Williams SG; Bhaskar SS; Jenkinson EM; Lourenco CM; Heiberg A; Pearce SH; Shalev SA; Yue WW; Mackinnon S; Munro KJ; Newbury-Ecob R; Becker K; Kim MJ; O' Keefe RT; Newman WG Clin Genet; 2017 Feb; 91(2):302-312. PubMed ID: 26970254 [TBL] [Abstract][Full Text] [Related]
4. Broadening the phenotype of the TWNK gene associated Perrault syndrome. Fekete B; Pentelényi K; Rudas G; Gál A; Grosz Z; Illés A; Idris J; Csukly G; Domonkos A; Molnar MJ BMC Med Genet; 2019 Dec; 20(1):198. PubMed ID: 31852434 [TBL] [Abstract][Full Text] [Related]
5. A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Gotta F; Lamp M; Geroldi A; Trevisan L; Origone P; Fugazza G; Fabbri S; Nesti C; Rubegni A; Morani F; Santorelli FM; Bellone E; Mandich P Ann Hum Genet; 2020 Sep; 84(5):417-422. PubMed ID: 32281099 [TBL] [Abstract][Full Text] [Related]
6. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. Lerat J; Jonard L; Loundon N; Christin-Maitre S; Lacombe D; Goizet C; Rouzier C; Van Maldergem L; Gherbi S; Garabedian EN; Bonnefont JP; Touraine P; Mosnier I; Munnich A; Denoyelle F; Marlin S Hum Mutat; 2016 Dec; 37(12):1354-1362. PubMed ID: 27650058 [TBL] [Abstract][Full Text] [Related]
7. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. Ahmed S; Jelani M; Alrayes N; Mohamoud HS; Almramhi MM; Anshasi W; Ahmed NA; Wang J; Nasir J; Al-Aama JY J Neurol Sci; 2015; 353(1-2):149-54. PubMed ID: 25956234 [TBL] [Abstract][Full Text] [Related]
8. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. Kume K; Morino H; Miyamoto R; Matsuda Y; Ohsawa R; Kanaya Y; Tada Y; Kurashige T; Kawakami H BMC Med Genet; 2020 Mar; 21(1):68. PubMed ID: 32234020 [TBL] [Abstract][Full Text] [Related]
9. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. Soldà G; Caccia S; Robusto M; Chiereghin C; Castorina P; Ambrosetti U; Duga S; Asselta R J Hum Genet; 2016 Apr; 61(4):295-300. PubMed ID: 26657938 [TBL] [Abstract][Full Text] [Related]
10. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Morino H; Pierce SB; Matsuda Y; Walsh T; Ohsawa R; Newby M; Hiraki-Kamon K; Kuramochi M; Lee MK; Klevit RE; Martin A; Maruyama H; King MC; Kawakami H Neurology; 2014 Nov; 83(22):2054-61. PubMed ID: 25355836 [TBL] [Abstract][Full Text] [Related]
11. Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report. Munson HE; De Simone L; Schwaede A; Bhatia A; Mithal DS; Young N; Kuntz N; Rao VK BMC Med Genomics; 2023 Nov; 16(1):278. PubMed ID: 37932750 [TBL] [Abstract][Full Text] [Related]
12. A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. Dursun F; Mohamoud HS; Karim N; Naeem M; Jelani M; Kırmızıbekmez H J Clin Res Pediatr Endocrinol; 2016 Dec; 8(4):472-477. PubMed ID: 27087618 [TBL] [Abstract][Full Text] [Related]
13. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Kosaki R; Horikawa R; Fujii E; Kosaki K Am J Med Genet A; 2018 Feb; 176(2):404-408. PubMed ID: 29205794 [TBL] [Abstract][Full Text] [Related]
14. A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome. Chang X; Li G; Fu H; Guan M; Guo T Eur J Obstet Gynecol Reprod Biol; 2024 Aug; 299():118-123. PubMed ID: 38852317 [TBL] [Abstract][Full Text] [Related]
15. [Analysis of TWNK variant in a family affected with Perrault syndrome]. Chen Z; Tang S; Li H; Xu X; Lyu J Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):739-742. PubMed ID: 32619254 [TBL] [Abstract][Full Text] [Related]
16. LARS2-Perrault syndrome: a new case report and literature review. Carminho-Rodrigues MT; Klee P; Laurent S; Guipponi M; Abramowicz M; Cao-van H; Guinand N; Paoloni-Giacobino A BMC Med Genet; 2020 May; 21(1):109. PubMed ID: 32423379 [TBL] [Abstract][Full Text] [Related]
17. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Faridi R; Rea A; Fenollar-Ferrer C; O'Keefe RT; Gu S; Munir Z; Khan AA; Riazuddin S; Hoa M; Naz S; Newman WG; Friedman TB Hum Genet; 2022 Apr; 141(3-4):805-819. PubMed ID: 34338890 [TBL] [Abstract][Full Text] [Related]
18. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Pierce SB; Gersak K; Michaelson-Cohen R; Walsh T; Lee MK; Malach D; Klevit RE; King MC; Levy-Lahad E Am J Hum Genet; 2013 Apr; 92(4):614-20. PubMed ID: 23541342 [TBL] [Abstract][Full Text] [Related]
19. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. Chen K; Yang K; Luo SS; Chen C; Wang Y; Wang YX; Li DK; Yang YJ; Tang YL; Liu FT; Wang J; Wu JJ; Sun YM BMC Med Genet; 2017 Aug; 18(1):91. PubMed ID: 28830375 [TBL] [Abstract][Full Text] [Related]
20. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). Tucker EJ; Rius R; Jaillard S; Bell K; Lamont PJ; Travessa A; Dupont J; Sampaio L; Dulon J; Vuillaumier-Barrot S; Whalen S; Isapof A; Stojkovic T; Quijano-Roy S; Robevska G; van den Bergen J; Hanna C; Simpson A; Ayers K; Thorburn DR; Christodoulou J; Touraine P; Sinclair AH Hum Genet; 2020 Oct; 139(10):1325-1343. PubMed ID: 32399598 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]