224 related articles for article (PubMed ID: 30794915)
1. Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.
Surikova Y; Filatova A; Polyak M; Skoblov M; Zaklyazminskaya E
Gene; 2019 May; 697():159-164. PubMed ID: 30794915
[TBL] [Abstract][Full Text] [Related]
2. De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Pajusalu S; Talvik I; Noormets K; Talvik T; Põder H; Joost K; Puusepp S; Piirsoo A; Stenzel W; Goebel HH; Nikopensius T; Annilo T; Nõukas M; Metspalu A; Õunap K; Reimand T
Neuromuscul Disord; 2016 Mar; 26(3):236-9. PubMed ID: 26782017
[TBL] [Abstract][Full Text] [Related]
3. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Bánfai Z; Hadzsiev K; Pál E; Komlósi K; Melegh M; Balikó L; Melegh B
BMC Med Genet; 2017 Sep; 18(1):105. PubMed ID: 28927399
[TBL] [Abstract][Full Text] [Related]
4. A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader I; Freilinger M; Landauer F; Waldmüller S; Mueller-Felber W; Rauscher C; Sperl W; Bittner RE; Schmidt WM; Mayr JA
Orphanet J Rare Dis; 2022 Jul; 17(1):279. PubMed ID: 35854315
[TBL] [Abstract][Full Text] [Related]
5. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C; Astrea G; Savarese M; Cassandrini D; Brisca G; Trucco F; Pedemonte M; Trovato R; Ruggiero L; Vercelli L; D'Amico A; Tasca G; Pane M; Fanin M; Bello L; Broda P; Musumeci O; Rodolico C; Messina S; Vita GL; Sframeli M; Gibertini S; Morandi L; Mora M; Maggi L; Petrucci A; Massa R; Grandis M; Toscano A; Pegoraro E; Mercuri E; Bertini E; Mongini T; Santoro L; Nigro V; Minetti C; Santorelli FM; Bruno C;
Orphanet J Rare Dis; 2016 Jul; 11(1):91. PubMed ID: 27387980
[TBL] [Abstract][Full Text] [Related]
6. A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.
Mamelona J; Filice L; Oussedik Y; Crapoulet N; Ouellette RJ; Marrero A
BMC Med Genet; 2019 May; 20(1):78. PubMed ID: 31068177
[TBL] [Abstract][Full Text] [Related]
7. MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
Atemin S; Todorov T; Maver A; Chamova T; Georgieva B; Tincheva S; Pacheva I; Ivanov I; Taneva A; Zlatareva D; Tournev I; Guergueltcheva V; Gospodinova M; Chochkova L; Peterlin B; Mitev V; Todorova A
Neuromuscul Disord; 2021 Jul; 31(7):633-641. PubMed ID: 34053846
[TBL] [Abstract][Full Text] [Related]
8. MYH7 mutation associated with two phenotypes of myopathy.
Li N; Zhao Z; Shen H; Bing Q; Guo X; Hu J
Neurol Sci; 2018 Feb; 39(2):333-339. PubMed ID: 29170849
[TBL] [Abstract][Full Text] [Related]
9. A rare mutation in MYH7 gene occurs with overlapping phenotype.
Ruggiero L; Fiorillo C; Gibertini S; De Stefano F; Manganelli F; Iodice R; Vitale F; Zanotti S; Galderisi M; Mora M; Santoro L
Biochem Biophys Res Commun; 2015 Feb; 457(3):262-6. PubMed ID: 25576864
[TBL] [Abstract][Full Text] [Related]
10. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
Feinstein-Linial M; Buvoli M; Buvoli A; Sadeh M; Dabby R; Straussberg R; Shelef I; Dayan D; Leinwand LA; Birk OS
BMC Med Genet; 2016 Aug; 17(1):57. PubMed ID: 27519903
[TBL] [Abstract][Full Text] [Related]
11. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
Naderi N; Mohsen-Pour N; Nilipour Y; Pourirahim M; Maleki M; Kalayinia S
BMC Cardiovasc Disord; 2023 Oct; 23(1):487. PubMed ID: 37794383
[TBL] [Abstract][Full Text] [Related]
12. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Cullup T; Lamont PJ; Cirak S; Damian MS; Wallefeld W; Gooding R; Tan SV; Sheehan J; Muntoni F; Abbs S; Sewry CA; Dubowitz V; Laing NG; Jungbluth H
Neuromuscul Disord; 2012 Dec; 22(12):1096-104. PubMed ID: 22784669
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ; Wallefeld W; Hilton-Jones D; Udd B; Argov Z; Barboi AC; Bonneman C; Boycott KM; Bushby K; Connolly AM; Davies N; Beggs AH; Cox GF; Dastgir J; DeChene ET; Gooding R; Jungbluth H; Muelas N; Palmio J; Penttilä S; Schmedding E; Suominen T; Straub V; Staples C; Van den Bergh PY; Vilchez JJ; Wagner KR; Wheeler PG; Wraige E; Laing NG
Hum Mutat; 2014 Jul; 35(7):868-79. PubMed ID: 24664454
[TBL] [Abstract][Full Text] [Related]
14. Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
Overeem S; Schelhaas HJ; Blijham PJ; Grootscholten MI; ter Laak HJ; Timmermans J; van den Wijngaard A; Zwarts MJ
Neuromuscul Disord; 2007 Jun; 17(6):490-3. PubMed ID: 17383184
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Clarke NF; Amburgey K; Teener J; Camelo-Piragua S; Kesari A; Punetha J; Waddell LB; Davis M; Laing NG; Monnier N; North KN; Hoffman EP; Dowling JJ
Neuromuscul Disord; 2013 May; 23(5):432-6. PubMed ID: 23478172
[TBL] [Abstract][Full Text] [Related]
16. Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.
Finsterer J; Brandau O; Stöllberger C; Wallefeld W; Laing NG; Laccone F
Neuromuscul Disord; 2014 Aug; 24(8):721-5. PubMed ID: 24953931
[TBL] [Abstract][Full Text] [Related]
17. MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y; Peng L; Zhao C
Mol Cell Biochem; 2024 Feb; 479(2):393-417. PubMed ID: 37079208
[TBL] [Abstract][Full Text] [Related]
18. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Pegoraro E; Gavassini BF; Borsato C; Melacini P; Vianello A; Stramare R; Cenacchi G; Angelini C
Neuromuscul Disord; 2007 Apr; 17(4):321-9. PubMed ID: 17336526
[TBL] [Abstract][Full Text] [Related]
19. Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
Yüceyar N; Ayhan Ö; Karasoy H; Tolun A
Neuromuscul Disord; 2015 Apr; 25(4):340-4. PubMed ID: 25666907
[TBL] [Abstract][Full Text] [Related]
20. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S; Tarrío R; Blanco-Arias P; Teijeira S; Rodríguez-Trelles F; García-Murias M; Delague V; Lévy N; Fernández JM; Quintáns B; Millán BS; Carracedo A; Navarro C; Sobrido MJ
Neuromuscul Disord; 2011 Apr; 21(4):254-62. PubMed ID: 21288719
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]