145 related articles for article (PubMed ID: 30244176)
1. Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.
Isik E; Aykut A; Atik T; Cogulu O; Ozkinay F
Eur J Med Genet; 2019 Sep; 62(9):103544. PubMed ID: 30244176
[TBL] [Abstract][Full Text] [Related]
2. TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Kariminejad A; Dahl-Halvarsson M; Ravenscroft G; Afroozan F; Keshavarz E; Goullée H; Davis MR; Faraji Zonooz M; Najmabadi H; Laing NG; Tajsharghi H
Brain; 2017 Nov; 140(11):2851-2859. PubMed ID: 29053766
[TBL] [Abstract][Full Text] [Related]
3. A very rare cause of arthrogryposis multiplex congenita: a novel mutation in
Sarıkaya E; Özçelik F; Gül Şiraz Ü; Hatipoglu N; Güneş T; Dündar M
J Pediatr Endocrinol Metab; 2022 Jun; 35(6):845-850. PubMed ID: 35303767
[TBL] [Abstract][Full Text] [Related]
4. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A; Lau T; Tajsharghi H; Karimiani EG; Kariminejad A; Efthymiou S; Zifarelli G; Sultan T; Toosi MB; Sedighzadeh S; Siu VM; Ortigoza-Escobar JD; AlShamsi AM; Ibrahim S; Al-Sannaa NA; Al-Hertani W; Sandra W; Tarnopolsky M; Alavi S; Li C; Day-Salvatore DL; Martínez-González MJ; Levandoski KM; Bedoukian E; Madan-Khetarpal S; Idleburg MJ; Menezes MJ; Siddharth A; Platzer K; Oppermann H; Smitka M; Collins F; Lek M; Shahrooei M; Ghavideldarestani M; Herman I; Rendu J; Faure J; Baker J; Bhambhani V; Calderwood L; Akhondian J; Imannezhad S; Mirzadeh HS; Hashemi N; Doosti M; Safi M; Ahangari N; Torbati PN; Abedini S; Salpietro V; Gulec EY; Eshaghian S; Ghazavi M; Pascher MT; Vogel M; Abicht A; Moutton S; Bruel AL; Rieubland C; Gallati S; Strom TM; Lochmüller H; Mohammadi MH; Alvi JR; Zackai EH; Keena BA; Skraban CM; Berger SI; Andrew EH; Rahimian E; Morrow MM; Wentzensen IM; Millan F; Henderson LB; Dafsari HS; Jungbluth H; Gomez-Ospina N; McRae A; Peter M; Veltra D; Marinakis NM; Sofocleous C; Ashrafzadeh F; Pehlivan D; Lemke JR; Melki J; Benezit A; Bauer P; Weis D; Lupski JR; Senderek J; Christodoulou J; Chung WK; Goodchild R; Offiah AC; Moreno-De-Luca A; Suri M; Ebrahimi-Fakhari D; Houlden H; Maroofian R
Brain; 2023 Aug; 146(8):3273-3288. PubMed ID: 36757831
[TBL] [Abstract][Full Text] [Related]
5. Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing.
McDermott H; Henderson A; Robinson HK; Heaver R; Halahakoon C; Cox H; Naik S
Neuromuscul Disord; 2021 Aug; 31(8):783-787. PubMed ID: 34303570
[TBL] [Abstract][Full Text] [Related]
6. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
[TBL] [Abstract][Full Text] [Related]
7. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
Zirn B; Grundmann K; Huppke P; Puthenparampil J; Wolburg H; Riess O; Müller U
J Neurol Neurosurg Psychiatry; 2008 Dec; 79(12):1327-30. PubMed ID: 18477710
[TBL] [Abstract][Full Text] [Related]
8. Genetic background modulates the phenotype of a mouse model of DYT1 dystonia.
Tanabe LM; Martin C; Dauer WT
PLoS One; 2012; 7(2):e32245. PubMed ID: 22393392
[TBL] [Abstract][Full Text] [Related]
9. Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Bhagat SL; Qiu S; Caffall ZF; Wan Y; Pan Y; Rodriguiz RM; Wetsel WC; Badea A; Hochgeschwender U; Calakos N
Neurobiol Dis; 2016 Sep; 93():137-45. PubMed ID: 27168150
[TBL] [Abstract][Full Text] [Related]
10. High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao J; Bastian RW; Perlmutter JS; Racette BA; Tabbal SD; Karimi M; Paniello RC; Blitzer A; Batish SD; Wszolek ZK; Uitti RJ; Hedera P; Simon DK; Tarsy D; Truong DD; Frei KP; Pfeiffer RF; Gong S; Zhao Y; LeDoux MS
BMC Med Genet; 2009 Mar; 10():24. PubMed ID: 19284587
[TBL] [Abstract][Full Text] [Related]
11. Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.
Zech M; Jochim A; Boesch S; Weber S; Meindl T; Peters A; Gieger C; Mueller J; Messner M; Ceballos-Baumann A; Poewe W; Haslinger B; Winkelmann J
Parkinsonism Relat Disord; 2016 Oct; 31():119-123. PubMed ID: 27477622
[TBL] [Abstract][Full Text] [Related]
12. Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V; Kresojević N; Žarković M; Tomić A; Marjanović A; Westenberger A; Cvetković D; Svetel M; Novaković I; Kostić VS
Parkinsonism Relat Disord; 2015 Oct; 21(10):1256-9. PubMed ID: 26297380
[TBL] [Abstract][Full Text] [Related]
13. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
Cheng FB; Feng JC; Ma LY; Miao J; Ott T; Wan XH; Grundmann K
Mov Disord; 2014 Jul; 29(8):1079-83. PubMed ID: 24862462
[TBL] [Abstract][Full Text] [Related]
14. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Monteiro FP; Curry CJ; Hevner R; Elliott S; Fisher JH; Turocy J; Dobyns WB; Costa LA; Freitas E; Kitajima JP; Kok F
Eur J Med Genet; 2020 Jan; 63(1):103624. PubMed ID: 30690204
[TBL] [Abstract][Full Text] [Related]
15. Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Seidahmed MZ; Al-Kindi A; Alsaif HS; Miqdad A; Alabbad N; Alfifi A; Abdelbasit OB; Alhussein K; Alsamadi A; Ibrahim N; Al-Futaisi A; Al-Maawali A; Alkuraya FS
Hum Genet; 2020 Apr; 139(4):513-519. PubMed ID: 31960134
[TBL] [Abstract][Full Text] [Related]
16. Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.
Enya T; Okamoto N; Iba Y; Miyazawa T; Okada M; Ida S; Naruto T; Imoto I; Fujita A; Miyake N; Matsumoto N; Sugimoto K; Takemura T
Am J Med Genet A; 2018 Mar; 176(3):707-711. PubMed ID: 29359444
[TBL] [Abstract][Full Text] [Related]
17. Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population.
Li J; Long Y; Huang X; Chen Y; Chen W; Liu S; Chu J; Yang Z; Sun H; Fang K
Neurosci Lett; 2017 Sep; 657():1-4. PubMed ID: 28756192
[TBL] [Abstract][Full Text] [Related]
18. The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?
Milanowski Ł; Hoffman-Zacharska D; Geremek M; Friedman A; Figura M; Koziorowski D
J Clin Neurosci; 2020 Feb; 72():501-503. PubMed ID: 31892495
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng FB; Wan XH; Feng JC; Wang L; Yang YM; Cui LY
Eur J Neurol; 2011 Mar; 18(3):497-503. PubMed ID: 20825472
[TBL] [Abstract][Full Text] [Related]
20. New THAP1 mutation and role of putative modifier in TOR1A.
Piovesana LG; Torres FR; Azevedo PC; Amaral TP; Lopes-Cendes I; D'Abreu A
Acta Neurol Scand; 2017 Feb; 135(2):183-188. PubMed ID: 26940431
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
