184 related articles for article (PubMed ID: 31625632)
1. Novel SPEG variant cause centronuclear myopathy in China.
Tang J; Ma W; Chen Y; Jiang R; Zeng Q; Tan J; Jiang H; Li Q; Zhang VW; Wang J; Tang H; Luo L
J Clin Lab Anal; 2020 Feb; 34(2):e23054. PubMed ID: 31625632
[TBL] [Abstract][Full Text] [Related]
2. Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.
Wang H; Castiglioni C; Kaçar Bayram A; Fattori F; Pekuz S; Araneda D; Per H; Erazo R; Gümüş H; Zorludemir S; Becker K; Ortega X; Bevilacqua JA; Bertini E; Cirak S
Neuromuscul Disord; 2017 Sep; 27(9):836-842. PubMed ID: 28624463
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.
Zhang G; Xu M; Huang T; Lin W; Chen J; Chen W; Chang X
BMC Pediatr; 2021 Apr; 21(1):209. PubMed ID: 33926407
[TBL] [Abstract][Full Text] [Related]
4. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Lornage X; Sabouraud P; Lannes B; Gaillard D; Schneider R; Deleuze JF; Boland A; Thompson J; Böhm J; Biancalana V; Laporte J
J Neuromuscul Dis; 2018; 5(2):257-260. PubMed ID: 29614691
[TBL] [Abstract][Full Text] [Related]
5. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Qualls AE; Donkervoort S; Herkert JC; D'gama AM; Bharucha-Goebel D; Collins J; Chao KR; Foley AR; Schoots MH; Jongbloed JDH; Bönnemann CG; Agrawal PB
Muscle Nerve; 2019 Mar; 59(3):357-362. PubMed ID: 30412272
[TBL] [Abstract][Full Text] [Related]
6. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal PB; Pierson CR; Joshi M; Liu X; Ravenscroft G; Moghadaszadeh B; Talabere T; Viola M; Swanson LC; Haliloğlu G; Talim B; Yau KS; Allcock RJ; Laing NG; Perrella MA; Beggs AH
Am J Hum Genet; 2014 Aug; 95(2):218-26. PubMed ID: 25087613
[TBL] [Abstract][Full Text] [Related]
7. A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Gurgel-Giannetti J; Souza LS; Messina de Pádua Andrade GF; Derlene MF; Meira ZMA; Azevedo BVM; Jr WC; Diniz SSL; Carvalhais MB; Oliveira JRS; Uliana L; Bráulio R; Costa PHN; Filho GB; Vainzof M
Neuromuscul Disord; 2021 Nov; 31(11):1199-1206. PubMed ID: 34742623
[TBL] [Abstract][Full Text] [Related]
8. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
Espinosa KG; Geissah S; Groom L; Volpatti J; Scott IC; Dirksen RT; Zhao M; Dowling JJ
Dis Model Mech; 2022 May; 15(5):. PubMed ID: 35293586
[TBL] [Abstract][Full Text] [Related]
9. Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.
Wang Q; Yu M; Xie Z; Liu J; Wang Q; Lv H; Zhang W; Yuan Y; Wang Z
Neurol Sci; 2022 Apr; 43(4):2803-2811. PubMed ID: 34595679
[TBL] [Abstract][Full Text] [Related]
10. DNM2 mutations in Chinese Han patients with centronuclear myopathy.
Lin P; Liu X; Zhao D; Dai T; Wu H; Gong Y; Yan C
Neurol Sci; 2016 Jun; 37(6):995-8. PubMed ID: 26908122
[TBL] [Abstract][Full Text] [Related]
11. A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
Wang H; Schänzer A; Kampschulte B; Daimagüler HS; Logeswaran T; Schlierbach H; Petzinger J; Ehrhardt H; Hahn A; Cirak S
Acta Neuropathol Commun; 2018 Aug; 6(1):83. PubMed ID: 30157964
[No Abstract] [Full Text] [Related]
12. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with
Jaouadi H; El Louali F; Wanert C; Cano A; Ovaert C; Zaffran S
Int J Mol Sci; 2022 May; 23(9):. PubMed ID: 35563595
[TBL] [Abstract][Full Text] [Related]
13. Mild congenital myopathy due to a novel variation in
Yildirim M; Balasar O; Kose E; Dogan MT
Intractable Rare Dis Res; 2021 Aug; 10(3):220-222. PubMed ID: 34466346
[TBL] [Abstract][Full Text] [Related]
14. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O; Agrawal PB; Hidalgo C; Schmitz-Abe K; DeChene ET; Swanson LC; Soemedi R; Vasli N; Iannaccone ST; Shieh PB; Shur N; Dennison JM; Lawlor MW; Laporte J; Markianos K; Fairbrother WG; Granzier H; Beggs AH
Neurology; 2013 Oct; 81(14):1205-14. PubMed ID: 23975875
[TBL] [Abstract][Full Text] [Related]
15. Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI; Erasmus CE; Bouman K; Pennings M; Schouten M; Kusters B; Duijkers FAM; van der Kooi A; Jaeger B; Verschuuren-Bemelmans CC; Faber CG; van Engelen BG; Kamsteeg EJ; Jungbluth H; Voermans NC
Clin Genet; 2021 Dec; 100(6):692-702. PubMed ID: 34463354
[TBL] [Abstract][Full Text] [Related]
16. Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
Zhao Y; Zhao Z; Shen H; Bing Q; Hu J
Neurol Sci; 2018 Dec; 39(12):2043-2051. PubMed ID: 30232666
[TBL] [Abstract][Full Text] [Related]
17. Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.
Li Q; Lin J; Rosen SM; Zhang T; Kazerounian S; Luo S; Agrawal PB
Am J Pathol; 2020 Dec; 190(12):2453-2463. PubMed ID: 32919980
[TBL] [Abstract][Full Text] [Related]
18. Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
Mejaddam AY; Nennesmo I; Sejersen T
Acta Myol; 2009 Dec; 28(3):91-3. PubMed ID: 20476667
[TBL] [Abstract][Full Text] [Related]
19. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.
Luo S; Rosen SM; Li Q; Agrawal PB
Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34072258
[TBL] [Abstract][Full Text] [Related]
20. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Abbott M; Jain M; Pferdehirt R; Chen Y; Tran A; Duz MB; Seven M; Gibbs RA; Muzny D; Lee B; Marom R; Burrage LC
Am J Med Genet A; 2017 Oct; 173(10):2789-2794. PubMed ID: 28815944
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
