BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: 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. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014;35:868-79. [PMID: 24664454 DOI: 10.1002/humu.22553] [Cited by in Crossref: 65] [Cited by in F6Publishing: 55] [Article Influence: 8.1] [Reference Citation Analysis]
Number Citing Articles
1 Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol 2018;14:151-67. [PMID: 29391587 DOI: 10.1038/nrneurol.2017.191] [Cited by in Crossref: 115] [Cited by in F6Publishing: 90] [Article Influence: 28.8] [Reference Citation Analysis]
2 Negrão L, Machado R, Lourenço M, Fernandez-Marmiesse A, Rebelo O. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. Acta Myol 2020;39:24-8. [PMID: 32607476 DOI: 10.36185/2532-1900-004] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
3 Donkervoort S, Bonnemann C, Loeys B, Jungbluth H, Voermans N. The neuromuscular differential diagnosis of joint hypermobility. Am J Med Genet 2015;169:23-42. [DOI: 10.1002/ajmg.c.31433] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 2.4] [Reference Citation Analysis]
4 Miura F, Shimada J, Kitagawa Y, Otani K, Sato T, Toki T, Takahashi T, Yonesaka S, Mizukami H, Ito E. MYH7 mutation identified by next-generation sequencing in three infant siblings with bi-ventricular noncompaction presenting with restrictive hemodynamics: A report of three siblings with a severe phenotype and poor prognosis. J Cardiol Cases 2019;19:140-3. [PMID: 30996762 DOI: 10.1016/j.jccase.2018.12.017] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
5 Pinto MJ, Passos BA, Grangeia A, Guimarães J, Braz L. Congenital myopathies in adults: A diagnosis not to overlook. Acta Neurol Scand 2022. [PMID: 35548885 DOI: 10.1111/ane.13632] [Reference Citation Analysis]
6 Mah JK, Joseph JT. An Overview of Congenital Myopathies. Continuum (Minneap Minn). 2016;22:1932-1953. [PMID: 27922501 DOI: 10.1212/con.0000000000000404] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
7 Dowling JJ, Weihl CC, Spencer MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nat Rev Mol Cell Biol 2021. [PMID: 34257452 DOI: 10.1038/s41580-021-00389-z] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
8 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. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis 2016;11:91. [PMID: 27387980 DOI: 10.1186/s13023-016-0476-1] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 6.3] [Reference Citation Analysis]
9 Evilä A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscular Disorders 2016;26:7-15. [DOI: 10.1016/j.nmd.2015.10.003] [Cited by in Crossref: 61] [Cited by in F6Publishing: 59] [Article Influence: 10.2] [Reference Citation Analysis]
10 Brand P, Dyck PJ, Liu J, Berini S, Selcen D, Milone M. Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. Neuromuscul Disord 2016;26:511-5. [PMID: 27282841 DOI: 10.1016/j.nmd.2016.05.012] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.5] [Reference Citation Analysis]
11 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. De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion. Neuromuscul Disord 2016;26:236-9. [PMID: 26782017 DOI: 10.1016/j.nmd.2015.11.011] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
12 Sewry CA, Wallgren-Pettersson C. Myopathology in congenital myopathies. Neuropathol Appl Neurobiol 2017;43:5-23. [PMID: 27976420 DOI: 10.1111/nan.12369] [Cited by in Crossref: 44] [Cited by in F6Publishing: 31] [Article Influence: 11.0] [Reference Citation Analysis]
13 Papadimas GK, Xirou S, Kararizou E, Papadopoulos C. Update on Congenital Myopathies in Adulthood. Int J Mol Sci 2020;21:E3694. [PMID: 32456280 DOI: 10.3390/ijms21103694] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Li S, Wen H, Du S. Defective sarcomere organization and reduced larval locomotion and fish survival in slow muscle heavy chain 1 (smyhc1) mutants. FASEB J 2020;34:1378-97. [PMID: 31914689 DOI: 10.1096/fj.201900935RR] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
15 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. MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance. Neuromuscul Disord 2021;31:633-41. [PMID: 34053846 DOI: 10.1016/j.nmd.2021.04.004] [Reference Citation Analysis]
16 Yu M, Zhu Y, Lu Y, Lv H, Zhang W, Yuan Y, Wang Z. Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations. Orphanet J Rare Dis 2020;15:344. [PMID: 33298082 DOI: 10.1186/s13023-020-01626-y] [Reference Citation Analysis]
17 Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. Acta Neuropathol Commun 2019;7:30. [PMID: 30823891 DOI: 10.1186/s40478-019-0683-9] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 6.3] [Reference Citation Analysis]
18 Cabrera-Serrano M, Fabian VA, Boutilier J, Wise C, Faiz F, Lamont PJ, Laing NG. Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2. Clin Genet 2015;88:573-8. [PMID: 25529940 DOI: 10.1111/cge.12552] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
19 Pérez-serra A, Toro R, Sarquella-brugada G, de Gonzalo-calvo D, Cesar S, Carro E, Llorente-cortes V, Iglesias A, Brugada J, Brugada R, Campuzano O. Genetic basis of dilated cardiomyopathy. International Journal of Cardiology 2016;224:461-72. [DOI: 10.1016/j.ijcard.2016.09.068] [Cited by in Crossref: 48] [Cited by in F6Publishing: 41] [Article Influence: 8.0] [Reference Citation Analysis]
20 Huovinen S, Penttilä S, Somervuo P, Keto J, Auvinen P, Vihola A, Huovinen S, Pelin K, Raheem O, Salenius J, Suominen T, Hackman P, Udd B. Differential isoform expression and selective muscle involvement in muscular dystrophies. Am J Pathol 2015;185:2833-42. [PMID: 26269091 DOI: 10.1016/j.ajpath.2015.06.018] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
21 Rinné S, Ortiz-Bonnin B, Stallmeyer B, Kiper AK, Fortmüller L, Schindler RFR, Herbort-Brand U, Kabir NS, Dittmann S, Friedrich C, Zumhagen S, Gualandi F, Selvatici R, Rapezzi C, Arbustini E, Ferlini A, Fabritz L, Schulze-Bahr E, Brand T, Decher N. POPDC2 a novel susceptibility gene for conduction disorders. J Mol Cell Cardiol 2020;145:74-83. [PMID: 32535041 DOI: 10.1016/j.yjmcc.2020.06.005] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
22 Ferbert A, Zibat A, Rautenstrauß B, Kress W, Hügens-penzel M, Weis J, Shah Y, Roth C. Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. Neuromuscular Disorders 2016;26:598-603. [DOI: 10.1016/j.nmd.2016.06.458] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
23 Veltri T, Landim-Vieira M, Parvatiyar MS, Gonzalez-Martinez D, Dieseldorff Jones KM, Michell CA, Dweck D, Landstrom AP, Chase PB, Pinto JR. Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation. Front Physiol 2017;8:221. [PMID: 28473771 DOI: 10.3389/fphys.2017.00221] [Cited by in Crossref: 10] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
24 Wang L, Geist J, Grogan A, Hu LR, Kontrogianni-Konstantopoulos A. Thick Filament Protein Network, Functions, and Disease Association. Compr Physiol 2018;8:631-709. [PMID: 29687901 DOI: 10.1002/cphy.c170023] [Cited by in Crossref: 22] [Cited by in F6Publishing: 23] [Article Influence: 5.5] [Reference Citation Analysis]
25 Naddaf E, Waclawik AJ. Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. J Clin Neuromuscul Dis 2015;16:164-9. [PMID: 25695922 DOI: 10.1097/CND.0000000000000069] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 1.1] [Reference Citation Analysis]
26 Hackman P, Rusanen SM, Johari M, Vihola A, Jonson PH, Sarparanta J, Donner K, Lahermo P, Koivunen S, Luque H, Soininen M, Mahjneh I, Auranen M, Arumilli M, Savarese M, Udd B. Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. Neurol Genet 2021;7:e632. [PMID: 34722876 DOI: 10.1212/NXG.0000000000000632] [Reference Citation Analysis]
27 Gong X, Wu G, Zeng C. Role of circular RNAs in cardiovascular diseases. Exp Biol Med (Maywood) 2019;244:73-82. [PMID: 30654635 DOI: 10.1177/1535370218822988] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 2.3] [Reference Citation Analysis]
28 Andreas MP, Ajay G, Gellings JA, Rayment I. Design considerations in coiled-coil fusion constructs for the structural determination of a problematic region of the human cardiac myosin rod. J Struct Biol 2017;200:219-28. [PMID: 28743637 DOI: 10.1016/j.jsb.2017.07.006] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
29 Cabrera-Serrano M, Junckerstorff RC, Alisheri A, Pestronk A, Laing NG, Weihl CC, Lamont PJ. Cystinosis distal myopathy, novel clinical, pathological and genetic features. Neuromuscul Disord 2017;27:873-8. [PMID: 28629674 DOI: 10.1016/j.nmd.2017.05.010] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
30 Dahl-Halvarsson M, Olive M, Pokrzywa M, Ejeskär K, Palmer RH, Uv AE, Tajsharghi H. Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member. Proc Natl Acad Sci U S A 2018;115:E6566-75. [PMID: 29946036 DOI: 10.1073/pnas.1800727115] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
31 Ravenscroft G, Laing NG, Bönnemann CG. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain 2015;138:246-68. [PMID: 25552303 DOI: 10.1093/brain/awu368] [Cited by in Crossref: 52] [Cited by in F6Publishing: 42] [Article Influence: 6.5] [Reference Citation Analysis]
32 Yüceyar N, Ayhan Ö, Karasoy H, Tolun A. Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. Neuromuscul Disord 2015;25:340-4. [PMID: 25666907 DOI: 10.1016/j.nmd.2015.01.007] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 2.4] [Reference Citation Analysis]
33 Walklate J, Vera C, Bloemink MJ, Geeves MA, Leinwand L. The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects. J Biol Chem 2016;291:10318-31. [PMID: 26945064 DOI: 10.1074/jbc.M115.707489] [Cited by in Crossref: 28] [Cited by in F6Publishing: 17] [Article Influence: 4.7] [Reference Citation Analysis]
34 Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H. Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations. Am J Med Genet A 2019;179:365-72. [PMID: 30588760 DOI: 10.1002/ajmg.a.61017] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
35 Mamelona J, Filice L, Oussedik Y, Crapoulet N, Ouellette RJ, Marrero A. A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report. BMC Med Genet 2019;20:78. [PMID: 31068177 DOI: 10.1186/s12881-019-0804-0] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
36 Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014;35:1418-26. [PMID: 25205138 DOI: 10.1002/humu.22693] [Cited by in Crossref: 73] [Cited by in F6Publishing: 69] [Article Influence: 10.4] [Reference Citation Analysis]
37 Hu LY, Ackermann MA, Kontrogianni-Konstantopoulos A. The sarcomeric M-region: a molecular command center for diverse cellular processes. Biomed Res Int 2015;2015:714197. [PMID: 25961035 DOI: 10.1155/2015/714197] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
38 Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, Vitale F, Zanotti S, Galderisi M, Mora M, Santoro L. A rare mutation in MYH7 gene occurs with overlapping phenotype. Biochem Biophys Res Commun 2015;457:262-6. [PMID: 25576864 DOI: 10.1016/j.bbrc.2014.12.098] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
39 Hedberg-Oldfors C, Darin N, Olsson Engman M, Orfanos Z, Thomsen C, van der Ven PF, Oldfors A. A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. Eur J Hum Genet 2016;24:1771-7. [PMID: 27485408 DOI: 10.1038/ejhg.2016.98] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.5] [Reference Citation Analysis]
40 Talbot J, Maves L. Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease. Wiley Interdiscip Rev Dev Biol 2016;5:518-34. [PMID: 27199166 DOI: 10.1002/wdev.230] [Cited by in Crossref: 110] [Cited by in F6Publishing: 101] [Article Influence: 18.3] [Reference Citation Analysis]
41 Jungbluth H, Voermans NC. Congenital myopathies: not only a paediatric topic. Curr Opin Neurol 2016;29:642-50. [PMID: 27538056 DOI: 10.1097/WCO.0000000000000372] [Cited by in Crossref: 24] [Cited by in F6Publishing: 5] [Article Influence: 6.0] [Reference Citation Analysis]
42 Korkmaz EN, Taylor KC, Andreas MP, Ajay G, Heinze NT, Cui Q, Rayment I. A composite approach towards a complete model of the myosin rod. Proteins 2016;84:172-89. [PMID: 26573747 DOI: 10.1002/prot.24964] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.4] [Reference Citation Analysis]
43 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F, Bönnemann C, Dirksen R, Faure J, Hamilton S, Hopkins P, Marks A, Marty I, Meilleur K, Riazi S, Sewry C, Treves S, Voermans N, Zorzato F. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016. Neuromuscular Disorders 2016;26:624-33. [DOI: 10.1016/j.nmd.2016.06.001] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 4.2] [Reference Citation Analysis]
44 Jin C, Wang M, Song W, Kong X, Zhang F, Zhang Q, He Y. Genome-Wide Identification, Characterization and Expression Profiling of myosin Family Genes in Sebastes schlegelii. Genes (Basel) 2021;12:808. [PMID: 34070681 DOI: 10.3390/genes12060808] [Reference Citation Analysis]
45 Dabaj I, Carlier RY, Gómez‐andrés D, Neto OA, Bertini E, D'amico A, Fattori F, Péréon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze J, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano‐roy S, Moreno CAM, Zanoteli E. Clinical and imaging hallmarks of the MYH7 ‐related myopathy with severe axial involvement. Muscle Nerve 2018;58:224-34. [DOI: 10.1002/mus.26137] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
46 Alessi CE, Wu Q, Whitaker CH, Felice KJ. Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype. J Clin Neuromuscul Dis 2020;22:22-34. [PMID: 32833721 DOI: 10.1097/CND.0000000000000297] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
47 Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene. Gene 2019;697:159-64. [PMID: 30794915 DOI: 10.1016/j.gene.2019.02.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
48 Radke J, Stenzel W, Goebel HH. Recently Identified Congenital Myopathies. Semin Pediatr Neurol 2019;29:83-90. [PMID: 31060728 DOI: 10.1016/j.spen.2019.01.008] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
49 Sahakyan AB, Balasubramanian S. Long genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases. BMC Genomics 2016;17:225. [PMID: 26968808 DOI: 10.1186/s12864-016-2582-9] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.5] [Reference Citation Analysis]
50 Beecher G, Liewluck T, Milone M. Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant. Neurol Genet 2022;8:e672. [DOI: 10.1212/nxg.0000000000000672] [Reference Citation Analysis]
51 Parker F, Batchelor M, Wolny M, Hughes R, Knight PJ, Peckham M. A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo. J Mol Biol 2018;430:1459-78. [PMID: 29660325 DOI: 10.1016/j.jmb.2018.04.006] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
52 Carbonell-corvillo P, Tristán-clavijo E, Cabrera-serrano M, Servián-morilla E, García-martín G, Villarreal-pérez L, Rivas-infante E, Area-gómez E, Chamorro-muñoz M, Gil-gálvez A, Miranda-vizuete A, Martinez-mir A, Laing N, Paradas C. A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscular Disorders 2018;28:828-36. [DOI: 10.1016/j.nmd.2018.07.006] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
53 Reis GF, de la Motte G, Gooding R, Laing NG, Margeta M. Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy: Type 1 fiber clefting in MPD1 muscle. Neuropathology 2015;35:575-81. [DOI: 10.1111/neup.12220] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
54 Dahl-Halvarsson M, Pokrzywa M, Rauthan M, Pilon M, Tajsharghi H. Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. PLoS One 2017;12:e0170613. [PMID: 28125727 DOI: 10.1371/journal.pone.0170613] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.2] [Reference Citation Analysis]
55 Phadke R. Myopathology of Congenital Myopathies: Bridging the Old and the New. Seminars in Pediatric Neurology 2019;29:55-70. [DOI: 10.1016/j.spen.2019.01.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
56 Yang HM, Guo JX, Yang YM. Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report. World J Clin Cases 2021; 9(7): 1748-1754 [PMID: 33728321 DOI: 10.12998/wjcc.v9.i7.1748] [Reference Citation Analysis]
57 Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC Med Genet 2016;17:57. [PMID: 27519903 DOI: 10.1186/s12881-016-0315-1] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.2] [Reference Citation Analysis]
58 Muelas N, Frasquet M, Más-Estellés F, Martí P, Martínez-Vicente L, Sevilla T, Azorín I, Poyatos-García J, Argente-Escrig H, Vílchez R, Vázquez-Costa JF, Bataller L, Vilchez JJ. A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging. Eur J Neurol 2021;28:1356-65. [PMID: 33151602 DOI: 10.1111/ene.14630] [Reference Citation Analysis]