214 related articles for article (PubMed ID: 28815944)
1. 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]
2. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT; Thor MG; Oates EC; van Karnebeek C; Hendson G; Blom E; Witting N; Rasmussen M; Gabbett MT; Ravenscroft G; Sframeli M; Suetterlin K; Sarkozy A; D'Argenzio L; Hartley L; Matthews E; Pitt M; Vissing J; Ballegaard M; Krarup C; Slørdahl A; Halvorsen H; Ye XC; Zhang LH; Løkken N; Werlauff U; Abdelsayed M; Davis MR; Feng L; Phadke R; Sewry CA; Morgan JE; Laing NG; Vallance H; Ruben P; Hanna MG; Lewis S; Kamsteeg EJ; Männikkö R; Muntoni F
Brain; 2016 Mar; 139(Pt 3):674-91. PubMed ID: 26700687
[TBL] [Abstract][Full Text] [Related]
3. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Segarra-Casas A; Collet R; Gonzalez-Quereda L; Vesperinas A; Caballero-Ávila M; Carbayo A; Díaz-Manera J; Rodriguez MJ; Gallardo E; Gallano P; Olivé M
Neuromuscul Disord; 2023 Apr; 33(4):319-323. PubMed ID: 36893608
[TBL] [Abstract][Full Text] [Related]
4. LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.
Berkenstadt M; Pode-Shakked B; Barel O; Barash H; Achiron R; Gilboa Y; Kidron D; Raas-Rothschild A
J Ultrasound Med; 2018 Jul; 37(7):1827-1833. PubMed ID: 29331079
[TBL] [Abstract][Full Text] [Related]
5. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
Piteau SJ; Rossiter JP; Smith RG; MacKenzie JJ
Pediatr Neurol; 2014 Aug; 51(2):192-7. PubMed ID: 25079567
[TBL] [Abstract][Full Text] [Related]
6. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M; Sandaradura SA; Dowling JJ; Kostyukova AS; Moroz N; Quinlan KG; Lehtokari VL; Ravenscroft G; Todd EJ; Ceyhan-Birsoy O; Gokhin DS; Maluenda J; Lek M; Nolent F; Pappas CT; Novak SM; D'Amico A; Malfatti E; Thomas BP; Gabriel SB; Gupta N; Daly MJ; Ilkovski B; Houweling PJ; Davidson AE; Swanson LC; Brownstein CA; Gupta VA; Medne L; Shannon P; Martin N; Bick DP; Flisberg A; Holmberg E; Van den Bergh P; Lapunzina P; Waddell LB; Sloboda DD; Bertini E; Chitayat D; Telfer WR; Laquerrière A; Gregorio CC; Ottenheijm CA; Bönnemann CG; Pelin K; Beggs AH; Hayashi YK; Romero NB; Laing NG; Nishino I; Wallgren-Pettersson C; Melki J; Fowler VM; MacArthur DG; North KN; Clarke NF
J Clin Invest; 2014 Nov; 124(11):4693-708. PubMed ID: 25250574
[TBL] [Abstract][Full Text] [Related]
7. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Lornage X; Malfatti E; Chéraud C; Schneider R; Biancalana V; Cuisset JM; Garibaldi M; Eymard B; Fardeau M; Boland A; Deleuze JF; Thompson J; Carlier RY; Böhm J; Romero NB; Laporte J
Ann Neurol; 2017 Mar; 81(3):467-473. PubMed ID: 28220527
[TBL] [Abstract][Full Text] [Related]
8. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Miyatake S; Mitsuhashi S; Hayashi YK; Purevjav E; Nishikawa A; Koshimizu E; Suzuki M; Yatabe K; Tanaka Y; Ogata K; Kuru S; Shiina M; Tsurusaki Y; Nakashima M; Mizuguchi T; Miyake N; Saitsu H; Ogata K; Kawai M; Towbin J; Nonaka I; Nishino I; Matsumoto N
Am J Hum Genet; 2017 Jan; 100(1):169-178. PubMed ID: 28017374
[TBL] [Abstract][Full Text] [Related]
9. [Structural congenital myopathies].
Erazo-Torricelli R
Rev Neurol; 2013 Sep; 57 Suppl 1():S53-64. PubMed ID: 23897157
[TBL] [Abstract][Full Text] [Related]
10. [Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].
Bojdo A; Obersztyn E; Wallgren-Pettersson C; Lehtokari V; Laing N; Davis M; Kułakowska Z
Med Wieku Rozwoj; 2009; 13(1):5-10. PubMed ID: 19648653
[TBL] [Abstract][Full Text] [Related]
11. Case report: Homozygous variants of
Skrypnyk C; Husain AA; Hassan HY; Ahmed J; Darwish A; Almusalam L; Ben Khalaf N; Al Qashar F
Front Genet; 2023; 14():1098102. PubMed ID: 37025449
[No Abstract] [Full Text] [Related]
12.
Marttila M; Win W; Al-Ghamdi F; Abdel-Hamid HZ; Lacomis D; Beggs AH
Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31127036
[TBL] [Abstract][Full Text] [Related]
13. Severe congenital actin related myopathy with myofibrillar myopathy features.
Selcen D
Neuromuscul Disord; 2015 Jun; 25(6):488-92. PubMed ID: 25913210
[TBL] [Abstract][Full Text] [Related]
14. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM; Malfatti E; Bosson C; Pelletier L; Taytard J; Forin V; Gidaro T; Gargaun E; Carlier P; Fauré J; Romero NB; Rendu J; Servais L
Neuromuscul Disord; 2016 Oct; 26(10):712-716. PubMed ID: 27528495
[TBL] [Abstract][Full Text] [Related]
15. Congenital myopathies: Natural history of a large pediatric cohort.
Colombo I; Scoto M; Manzur AY; Robb SA; Maggi L; Gowda V; Cullup T; Yau M; Phadke R; Sewry C; Jungbluth H; Muntoni F
Neurology; 2015 Jan; 84(1):28-35. PubMed ID: 25428687
[TBL] [Abstract][Full Text] [Related]
16. The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS; Yu FNY; Fung CW; Wong S; Lee HHC; Fung STH; Fung GPG; Leung KY; Chung WH; Lee YT; Ng VKS; Yu MHC; Fung JLF; Tsang MHY; Chan KYK; Chan SHS; Kan ASY; Chung BHY
Mol Genet Genomic Med; 2020 Jul; 8(7):e1229. PubMed ID: 32352246
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Marra JD; Engelstad KE; Ankala A; Tanji K; Dastgir J; De Vivo DC; Coffee B; Chiriboga CA
Muscle Nerve; 2015 May; 51(5):767-72. PubMed ID: 25430424
[TBL] [Abstract][Full Text] [Related]
18. A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
Evangelista T; Lornage X; Carlier PG; Bassez G; Brochier G; Chanut A; Lacène E; Bui MT; Metay C; Oppermann U; Böhm J; Laporte J; Romero NB
J Neuropathol Exp Neurol; 2020 Aug; 79(8):908-914. PubMed ID: 32607581
[TBL] [Abstract][Full Text] [Related]
19.
Avasthi KK; Agarwal S; Panigrahi I
J Pediatr Neurosci; 2019; 14(4):222-224. PubMed ID: 31908664
[TBL] [Abstract][Full Text] [Related]
20. Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.
Michael E; Hedberg-Oldfors C; Wilmar P; Visuttijai K; Oldfors A; Darin N
Neuromuscul Disord; 2019 Feb; 29(2):108-113. PubMed ID: 30642739
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]