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Items: 1 to 20 of 126

1.

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. Epub 2007 Mar 2.

PMID:
17336526
2.

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; Italian Network on Congenital Myopathies.

Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

3.

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. doi: 10.1002/humu.22553. Epub 2014 May 21.

4.

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

Dye DE, Azzarelli B, Goebel HH, Laing NG.

Neuromuscul Disord. 2006 Jun;16(6):357-60. Epub 2006 May 8.

PMID:
16684601
5.

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A.

Neuromuscul Disord. 2011 Nov;21(11):812-5. doi: 10.1016/j.nmd.2011.05.005. Epub 2011 Jun 30.

PMID:
21723124
6.

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

Kiphuth IC, Neuen-Jacob E, Struffert T, Wehner M, Wallefeld W, Laing N, Schröder R.

Fortschr Neurol Psychiatr. 2010 Apr;78(4):219-22. doi: 10.1055/s-0029-1245145. Epub 2010 Apr 7. German.

PMID:
20376763
7.

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH.

Neurology. 2005 Feb 8;64(3):527-9.

PMID:
15699387
8.

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 19;18(1):105. doi: 10.1186/s12881-017-0463-y. Erratum in: BMC Med Genet. 2017 Dec 16;18(1):150.

9.

New phenotype and pathology features in MYH7-related distal myopathy.

Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.

Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20.

PMID:
22521714
10.

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. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.

PMID:
21288719
11.

Myosin storage (hyaline body) myopathy: a case report.

Shingde MV, Spring PJ, Maxwell A, Wills EJ, Harper CG, Dye DE, Laing NG, North KN.

Neuromuscul Disord. 2006 Dec;16(12):882-6. Epub 2006 Nov 21.

PMID:
17118657
12.

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. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9.

13.

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A.

Ann Neurol. 2003 Oct;54(4):494-500.

PMID:
14520662
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. Epub 2007 Mar 23.

PMID:
17383184
15.

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. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10.

PMID:
22784669
16.

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. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26.

PMID:
25666907
17.

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. doi: 10.1016/j.nmd.2014.05.010. Epub 2014 Jun 4.

PMID:
24953931
18.

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B.

J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30.

PMID:
21279644
19.

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB.

Neuromuscul Disord. 2009 Feb;19(2):163-6. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12.

PMID:
19138847
20.

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.

Díaz-Manera J, Alejaldre A, Llauger J, Mirabet S, Rojas-García R, Ramos-Fransi A, Gallardo E, Illa I.

Eur J Neurol. 2014 Jun;21(6):e51-2. doi: 10.1111/ene.12416. No abstract available.

PMID:
24805292

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