BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010;31:E1544-E1550. [PMID: 20583297 DOI: 10.1002/humu.21278] [Cited by in Crossref: 123] [Cited by in F6Publishing: 108] [Article Influence: 10.3] [Reference Citation Analysis]
Number Citing Articles
1 Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013;113:1321-36. [PMID: 23622357 DOI: 10.1016/B978-0-444-59565-2.00004-6] [Cited by in Crossref: 48] [Cited by in F6Publishing: 19] [Article Influence: 6.0] [Reference Citation Analysis]
2 Marty I, Fauré J. Excitation-Contraction Coupling Alterations in Myopathies. J Neuromuscul Dis 2016;3:443-53. [PMID: 27911331 DOI: 10.3233/JND-160172] [Cited by in Crossref: 10] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
3 Clarke NF. Congenital fiber-type disproportion. Semin Pediatr Neurol. 2011;18:264-271. [PMID: 22172422 DOI: 10.1016/j.spen.2011.10.008] [Cited by in Crossref: 44] [Cited by in F6Publishing: 33] [Article Influence: 4.4] [Reference Citation Analysis]
4 Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH. MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing. Cold Spring Harb Mol Case Stud 2019;5:a004184. [PMID: 31127036 DOI: 10.1101/mcs.a004184] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
5 Laughlin RS, Niu Z, Wieben E, Milone M. RYR1 causing distal myopathy. Mol Genet Genomic Med 2017;5:800-4. [PMID: 29178655 DOI: 10.1002/mgg3.338] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
6 Schartner V, Laporte J, Böhm J. Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies. J Neuromuscul Dis 2019;6:289-305. [PMID: 31356215 DOI: 10.3233/JND-180314] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
7 Maclennan DH, Zvaritch E. Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2011;1813:948-64. [DOI: 10.1016/j.bbamcr.2010.11.009] [Cited by in Crossref: 78] [Cited by in F6Publishing: 77] [Article Influence: 7.1] [Reference Citation Analysis]
8 Fauré J, Lunardi J, Monnier N, Marty I. Ryanodine Receptor 1 and Associated Pathologies. In: Weiss N, Koschak A, editors. Pathologies of Calcium Channels. Berlin: Springer Berlin Heidelberg; 2014. pp. 167-87. [DOI: 10.1007/978-3-642-40282-1_9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
9 Riazi S, Kraeva N, Hopkins PM. Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. Anesthesiology 2018;128:168-80. [PMID: 28902675 DOI: 10.1097/ALN.0000000000001878] [Cited by in Crossref: 65] [Cited by in F6Publishing: 22] [Article Influence: 13.0] [Reference Citation Analysis]
10 Fusto A, Moyle LA, Gilbert PM, Pegoraro E. Cored in the act: the use of models to understand core myopathies. Dis Model Mech 2019;12:dmm041368. [PMID: 31874912 DOI: 10.1242/dmm.041368] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
11 Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skelet Muscle 2020;10:32. [PMID: 33190635 DOI: 10.1186/s13395-020-00243-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
12 Maggi L, Scoto M, Cirak S, Robb S, Klein A, Lillis S, Cullup T, Feng L, Manzur A, Sewry C, Abbs S, Jungbluth H, Muntoni F. Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscular Disorders 2013;23:195-205. [DOI: 10.1016/j.nmd.2013.01.004] [Cited by in Crossref: 86] [Cited by in F6Publishing: 72] [Article Influence: 9.6] [Reference Citation Analysis]
13 Vill K, Blaschek A, Gläser D, Kuhn M, Haack T, Alhaddad B, Wagner M, Kovacs-Nagy R, Tacke M, Gerstl L, Schroeder AS, Borggraefe I, Mueller C, Schlotter-Weigel B, Schoser B, Walter MC, Müller-Felber W. Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. J Neuromuscul Dis 2017;4:315-25. [PMID: 29172004 DOI: 10.3233/JND-170231] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
14 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]
15 Witherspoon JW, Vuillerot C, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Jain MS, Meilleur KG. Motor function performance in individuals with RYR1-related myopathies. Muscle Nerve 2019;60:80-7. [PMID: 31004442 DOI: 10.1002/mus.26491] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Samões R, Oliveira J, Taipa R, Coelho T, Cardoso M, Gonçalves A, Santos R, Melo Pires M, Santos M. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre. J Neuromuscul Dis 2017;4:67-76. [PMID: 28269792 DOI: 10.3233/JND-160199] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
17 Marks S, van Ruitenbeek E, Fallon P, Johns P, Phadke R, Mein R, Mohammed S, Jungbluth H. Parental mosaicism in RYR1-related Central Core Disease. Neuromuscul Disord 2018;28:422-6. [PMID: 29576327 DOI: 10.1016/j.nmd.2018.02.011] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
18 Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. Front Neurol 2018;9:118. [PMID: 29556213 DOI: 10.3389/fneur.2018.00118] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 2.3] [Reference Citation Analysis]
19 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscul Disord 2012;22:453-62. [PMID: 22226685 DOI: 10.1016/j.nmd.2011.12.003] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 1.9] [Reference Citation Analysis]
20 Ogasawara M, Nishino I. A review of major causative genes in congenital myopathies. J Hum Genet 2022. [PMID: 35668205 DOI: 10.1038/s10038-022-01045-w] [Reference Citation Analysis]
21 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 Á, Navarro C, Sobrido M. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscular Disorders 2011;21:254-62. [DOI: 10.1016/j.nmd.2010.12.011] [Cited by in Crossref: 42] [Cited by in F6Publishing: 36] [Article Influence: 3.8] [Reference Citation Analysis]
22 Blackburn PR, Selcen D, Gass JM, Jackson JL, Macklin S, Cousin MA, Boczek NJ, Klee EW, Dimberg EL, Kennelly KD, Atwal PS. Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. Mol Genet Genomic Med 2017;5:295-302. [PMID: 28547000 DOI: 10.1002/mgg3.280] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
23 Palma S, Keilani M, Hasenoehrl T, Ambrozy C, Dana S, Sycha T, Crevenna R. Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report. Wien Med Wochenschr 2018;168:367-73. [PMID: 28744779 DOI: 10.1007/s10354-017-0580-4] [Reference Citation Analysis]
24 Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet 2012;158A:772-8. [DOI: 10.1002/ajmg.a.35243] [Cited by in Crossref: 23] [Cited by in F6Publishing: 21] [Article Influence: 2.3] [Reference Citation Analysis]
25 Jungbluth H, Ochala J, Treves S, Gautel M. Current and future therapeutic approaches to the congenital myopathies. Semin Cell Dev Biol 2017;64:191-200. [PMID: 27515125 DOI: 10.1016/j.semcdb.2016.08.004] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 4.0] [Reference Citation Analysis]
26 Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course. Acta Neuropathol Commun 2021;9:155. [PMID: 34535181 DOI: 10.1186/s40478-021-01254-y] [Reference Citation Analysis]
27 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]
28 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]
29 Jokela M, Tasca G, Vihola A, Mercuri E, Jonson PH, Lehtinen S, Välipakka S, Pane M, Donati M, Johari M, Savarese M, Huovinen S, Isohanni P, Palmio J, Hartikainen P, Udd B. An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. Neurology 2019;92:e1600-9. [PMID: 30842289 DOI: 10.1212/WNL.0000000000007246] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
30 Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT. Mouse model of severe recessive RYR1-related myopathy. Hum Mol Genet 2019;28:3024-36. [PMID: 31107960 DOI: 10.1093/hmg/ddz105] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
31 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]
32 Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations. J Neurol 2019;266:876-87. [PMID: 30788618 DOI: 10.1007/s00415-019-09209-z] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 3.7] [Reference Citation Analysis]
33 Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S. Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Hum Mol Genet 2017;26:320-32. [PMID: 28007904 DOI: 10.1093/hmg/ddw388] [Cited by in Crossref: 1] [Cited by in F6Publishing: 8] [Article Influence: 0.2] [Reference Citation Analysis]
34 Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis 2015;10:51. [PMID: 25929793 DOI: 10.1186/s13023-015-0264-3] [Cited by in Crossref: 62] [Cited by in F6Publishing: 51] [Article Influence: 8.9] [Reference Citation Analysis]
35 Nishikawa A, Mitsuhashi S, Miyata N, Nishino I. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. J Med Genet 2017;54:104-10. [DOI: 10.1136/jmedgenet-2016-104073] [Cited by in Crossref: 34] [Cited by in F6Publishing: 29] [Article Influence: 5.7] [Reference Citation Analysis]
36 Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F. RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling. Human Mutation 2013;34:986-96. [DOI: 10.1002/humu.22326] [Cited by in Crossref: 31] [Cited by in F6Publishing: 28] [Article Influence: 3.4] [Reference Citation Analysis]
37 Moreno CAM, Estephan EP, Fappi A, Monges S, Lubieniecki F, Lopes Abath Neto O, Reed UC, Donkervoort S, Harms MB, Bonnemann C, Zanoteli E. Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases. Neuromuscul Disord 2020;30:54-8. [PMID: 31866162 DOI: 10.1016/j.nmd.2019.11.001] [Reference Citation Analysis]
38 Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular Disorders 2015;25:567-76. [DOI: 10.1016/j.nmd.2015.04.007] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 3.3] [Reference Citation Analysis]
39 Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 2013;136:282-93. [PMID: 23365102 DOI: 10.1093/brain/aws293] [Cited by in Crossref: 31] [Cited by in F6Publishing: 22] [Article Influence: 3.4] [Reference Citation Analysis]
40 Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Clinical utility gene card for: nemaline myopathy. Eur J Hum Genet 2012;20. [PMID: 22510848 DOI: 10.1038/ejhg.2012.70] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.4] [Reference Citation Analysis]
41 Klatt Shaw D, Gunther D, Jurynec MJ, Chagovetz AA, Ritchie E, Grunwald DJ. Intracellular Calcium Mobilization Is Required for Sonic Hedgehog Signaling. Dev Cell 2018;45:512-525.e5. [PMID: 29754802 DOI: 10.1016/j.devcel.2018.04.013] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
42 Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol 2011;18:239-49. [PMID: 22172419 DOI: 10.1016/j.spen.2011.10.005] [Cited by in Crossref: 98] [Cited by in F6Publishing: 73] [Article Influence: 9.8] [Reference Citation Analysis]
43 Maggi L, Bonanno S, Altamura C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells 2021;10:1521. [PMID: 34208776 DOI: 10.3390/cells10061521] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
44 Lee CS, Hanna AD, Wang H, Dagnino-Acosta A, Joshi AD, Knoblauch M, Xia Y, Georgiou DK, Xu J, Long C, Amano H, Reynolds C, Dong K, Martin JC, Lagor WR, Rodney GG, Sahin E, Sewry C, Hamilton SL. A chemical chaperone improves muscle function in mice with a RyR1 mutation. Nat Commun 2017;8:14659. [PMID: 28337975 DOI: 10.1038/ncomms14659] [Cited by in Crossref: 35] [Cited by in F6Publishing: 33] [Article Influence: 7.0] [Reference Citation Analysis]
45 Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S, Zorzato F. Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. J Biol Chem 2020;295:10331-9. [PMID: 32499372 DOI: 10.1074/jbc.RA120.013846] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
46 Litman RS, Griggs SM, Dowling JJ, Riazi S. Malignant Hyperthermia Susceptibility and Related Diseases. Anesthesiology 2018;128:159-67. [DOI: 10.1097/aln.0000000000001877] [Cited by in Crossref: 46] [Cited by in F6Publishing: 16] [Article Influence: 11.5] [Reference Citation Analysis]
47 Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F. Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet 2011;20:589-600. [PMID: 21088110 DOI: 10.1093/hmg/ddq506] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 1.5] [Reference Citation Analysis]
48 Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A. Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. Acta Neurol Scand 2018;137:452-61. [PMID: 29635721 DOI: 10.1111/ane.12885] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 3.3] [Reference Citation Analysis]
49 Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK. Congenital fiber type disproportion myopathy caused by LMNA mutations. J Neurol Sci 2014;340:94-8. [PMID: 24642510 DOI: 10.1016/j.jns.2014.02.036] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 1.6] [Reference Citation Analysis]
50 Sekulic-jablanovic M, Palmowski-wolfe A, Zorzato F, Treves S. Characterization of excitation–contraction coupling components in human extraocular muscles. Biochemical Journal 2015;466:29-36. [DOI: 10.1042/bj20140970] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
51 Casey J, Flood K, Ennis S, Doyle E, Farrell M, Lynch SA. Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing. Prenat Diagn 2016;36:1020-6. [PMID: 27616680 DOI: 10.1002/pd.4925] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
52 Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg E, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol 2013;260:1504-10. [DOI: 10.1007/s00415-012-6817-7] [Cited by in Crossref: 52] [Cited by in F6Publishing: 45] [Article Influence: 5.8] [Reference Citation Analysis]
53 Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr. 2017;43:101. [PMID: 29141652 DOI: 10.1186/s13052-017-0419-z] [Cited by in Crossref: 37] [Cited by in F6Publishing: 26] [Article Influence: 7.4] [Reference Citation Analysis]
54 Zecevic N, Arsenijevic V, Manolakos E, Papoulidis I, Theocharis G, Sartsidis A, Tsagas T, Tziotis I, Dagklis T, Kalogeros G, Tsakiridis I, Filipovic Stankovic M, Eleftheriades M. New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies. Mol Syndromol 2020;11:104-9. [PMID: 32655342 DOI: 10.1159/000507034] [Reference Citation Analysis]
55 Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics 2018;15:885-99. [PMID: 30406384 DOI: 10.1007/s13311-018-00677-1] [Cited by in Crossref: 38] [Cited by in F6Publishing: 28] [Article Influence: 12.7] [Reference Citation Analysis]
56 Park YE, Shin JH, Kim HS, Lee CH, Kim DS. Characterization of congenital myopathies at a Korean neuromuscular center. Muscle Nerve 2018;58:235-44. [PMID: 29669168 DOI: 10.1002/mus.26147] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
57 Witherspoon JW, Meilleur KG. Review of RyR1 pathway and associated pathomechanisms. Acta Neuropathol Commun 2016;4:121. [PMID: 27855725 DOI: 10.1186/s40478-016-0392-6] [Cited by in Crossref: 39] [Cited by in F6Publishing: 31] [Article Influence: 6.5] [Reference Citation Analysis]
58 Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol 2011;37:271-84. [PMID: 21062345 DOI: 10.1111/j.1365-2990.2010.01149.x] [Cited by in Crossref: 77] [Cited by in F6Publishing: 71] [Article Influence: 7.0] [Reference Citation Analysis]
59 Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG. Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology 2018;90:e412-8. [PMID: 29298851 DOI: 10.1212/WNL.0000000000004894] [Cited by in Crossref: 24] [Cited by in F6Publishing: 17] [Article Influence: 6.0] [Reference Citation Analysis]
60 Hwang JH, Zorzato F, Clarke NF, Treves S. Mapping domains and mutations on the skeletal muscle ryanodine receptor channel. Trends in Molecular Medicine 2012;18:644-57. [DOI: 10.1016/j.molmed.2012.09.006] [Cited by in Crossref: 42] [Cited by in F6Publishing: 39] [Article Influence: 4.2] [Reference Citation Analysis]
61 Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, Mccormack S, Mccormick EM, Mcfarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Diagnosis of ‘possible’ mitochondrial disease: an existential crisis. J Med Genet 2019;56:123-30. [DOI: 10.1136/jmedgenet-2018-105800] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 7.0] [Reference Citation Analysis]
62 Shen L, Gan M, Tang Q, Tang G, Jiang Y, Li M, Chen L, Bai L, Shuai S, Wang J, Li X, Liao K, Zhang S, Zhu L. Comprehensive Analysis of lncRNAs and circRNAs Reveals the Metabolic Specialization in Oxidative and Glycolytic Skeletal Muscles. Int J Mol Sci 2019;20:E2855. [PMID: 31212733 DOI: 10.3390/ijms20122855] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
63 Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, Marty I, Lunardi J, Brooks SV, Kuwada JY, Ferreiro A. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain 2012;135:1115-27. [PMID: 22418739 DOI: 10.1093/brain/aws036] [Cited by in Crossref: 82] [Cited by in F6Publishing: 75] [Article Influence: 8.2] [Reference Citation Analysis]
64 Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol 2013;131:1532-40. [PMID: 24091937 DOI: 10.1001/jamaophthalmol.2013.4392] [Cited by in Crossref: 21] [Cited by in F6Publishing: 15] [Article Influence: 2.6] [Reference Citation Analysis]
65 Voermans NC, Snoeck M, Jungbluth H. RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction. Rev Neurol (Paris) 2016;172:546-58. [PMID: 27663056 DOI: 10.1016/j.neurol.2016.07.018] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 3.5] [Reference Citation Analysis]
66 Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R. Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding. Neuromuscul Disord 2018;28:54-8. [PMID: 29169929 DOI: 10.1016/j.nmd.2017.09.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
67 Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis 2013;8:117. [PMID: 23919265 DOI: 10.1186/1750-1172-8-117] [Cited by in Crossref: 72] [Cited by in F6Publishing: 60] [Article Influence: 8.0] [Reference Citation Analysis]
68 Dowling JJ, Lawlor MW, Dirksen RT. Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics 2014;11:773-85. [PMID: 25168790 DOI: 10.1007/s13311-014-0300-3] [Cited by in Crossref: 46] [Cited by in F6Publishing: 39] [Article Influence: 6.6] [Reference Citation Analysis]
69 North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014;24:97-116. [PMID: 24456932 DOI: 10.1016/j.nmd.2013.11.003] [Cited by in Crossref: 162] [Cited by in F6Publishing: 122] [Article Influence: 18.0] [Reference Citation Analysis]
70 Voermans N, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M. Congenital myopathy with focal loss of cross-striations revisited. Neuromuscular Disorders 2013;23:160-4. [DOI: 10.1016/j.nmd.2012.08.010] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
71 Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F. Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. Human Molecular Genetics 2019;28:1872-84. [DOI: 10.1093/hmg/ddz025] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
72 Al-Qusairi L, Laporte J. T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle 2011;1:26. [PMID: 21797990 DOI: 10.1186/2044-5040-1-26] [Cited by in Crossref: 107] [Cited by in F6Publishing: 88] [Article Influence: 9.7] [Reference Citation Analysis]
73 Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Clinical utility gene card for: Nemaline myopathy - update 2015. Eur J Hum Genet 2015;23. [PMID: 25712079 DOI: 10.1038/ejhg.2015.12] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
74 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]
75 Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol 2020;39:245-65. [PMID: 33458580 DOI: 10.36185/2532-1900-028] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
76 Jungbluth H, Gautel M. Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci 2014;6:339. [PMID: 25566070 DOI: 10.3389/fnagi.2014.00339] [Cited by in Crossref: 72] [Cited by in F6Publishing: 67] [Article Influence: 9.0] [Reference Citation Analysis]
77 Clarke NF, Waddell LB, Sie LT, van Bon BW, Mclean C, Clark D, Kornberg A, Lammens M, North KN. Mutations in TPM2 and congenital fibre type disproportion. Neuromuscular Disorders 2012;22:955-8. [DOI: 10.1016/j.nmd.2012.06.002] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 1.6] [Reference Citation Analysis]
78 McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun 2014;2:148. [PMID: 25476234 DOI: 10.1186/s40478-014-0148-0] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 2.5] [Reference Citation Analysis]
79 Savarese M, Välipakka S, Johari M, Hackman P, Udd B. Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? J Neuromuscul Dis 2020;7:203-16. [PMID: 32176652 DOI: 10.3233/JND-190459] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
80 Amburgey K, Mcnamara N, Bennett LR, Mccormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol 2011;70:662-5. [DOI: 10.1002/ana.22510] [Cited by in Crossref: 85] [Cited by in F6Publishing: 70] [Article Influence: 7.7] [Reference Citation Analysis]
81 Böhm J, Vasli N, Malfatti E, Le Gras S, Feger C, Jost B, Monnier N, Brocard J, Karasoy H, Gérard M, Walter MC, Reilich P, Biancalana V, Kretz C, Messaddeq N, Marty I, Lunardi J, Romero NB, Laporte J. An integrated diagnosis strategy for congenital myopathies. PLoS One 2013;8:e67527. [PMID: 23826317 DOI: 10.1371/journal.pone.0067527] [Cited by in Crossref: 41] [Cited by in F6Publishing: 40] [Article Influence: 4.6] [Reference Citation Analysis]
82 Sano K, Miura S, Fujiwara T, Fujioka R, Yorita A, Noda K, Kida H, Azuma K, Kaieda S, Yamamoto K, Taniwaki T, Fukumaki Y, Shibata H. A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia. Journal of the Neurological Sciences 2015;356:142-7. [DOI: 10.1016/j.jns.2015.06.035] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
83 Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci 2012;49:33-48. [PMID: 22468856 DOI: 10.3109/10408363.2012.658906] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 4.1] [Reference Citation Analysis]
84 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]
85 Sekulic-Jablanovic M, Ullrich ND, Goldblum D, Palmowski-Wolfe A, Zorzato F, Treves S. Functional characterization of orbicularis oculi and extraocular muscles. J Gen Physiol 2016;147:395-406. [PMID: 27069119 DOI: 10.1085/jgp.201511542] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
86 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]
87 Esposito T, Sampaolo S, Limongelli G, Varone A, Formicola D, Diodato D, Farina O, Napolitano F, Pacileo G, Gianfrancesco F, Di Iorio G. Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Orphanet J Rare Dis 2013;8:91. [PMID: 23800289 DOI: 10.1186/1750-1172-8-91] [Cited by in Crossref: 30] [Cited by in F6Publishing: 26] [Article Influence: 3.3] [Reference Citation Analysis]
88 Kuo A, Todd JJ, Witherspoon JW, Lawal TA, Elliott J, Chrismer IC, Shelton MO, Razaqyar MS, Jain MS, Vasavada R, Waite M, Drinkard B, Michael D, Richarte A, Bönnemann CG, Meilleur KG. Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders. J Neuromuscul Dis 2019;6:133-41. [PMID: 30714968 DOI: 10.3233/JND-180335] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
89 Chagovetz AA, Klatt Shaw D, Ritchie E, Hoshijima K, Grunwald DJ. Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function. Dis Model Mech 2019;13:dmm038844. [PMID: 31383689 DOI: 10.1242/dmm.038844] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
90 Rokach O, Sekulic-jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Hum Mol Genet 2015;24:4636-47. [DOI: 10.1093/hmg/ddv195] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 3.9] [Reference Citation Analysis]
91 Baban A, Lodato V, Parlapiano G, di Mambro C, Adorisio R, Bertini ES, Dionisi-Vici C, Drago F, Martinelli D. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. Biomolecules 2021;11:1578. [PMID: 34827576 DOI: 10.3390/biom11111578] [Reference Citation Analysis]
92 Ogasawara M, Nishino I. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Neuromuscul Disord 2021;31:968-77. [PMID: 34627702 DOI: 10.1016/j.nmd.2021.08.015] [Reference Citation Analysis]
93 Ruggiero L, Fiorillo C, Tessa A, Manganelli F, Iodice R, Dubbioso R, Vitale F, Storti E, Soscia E, Santorelli F, Santoro L. Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene. Muscle Nerve 2015;51:604-8. [PMID: 25256213 DOI: 10.1002/mus.24467] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.9] [Reference Citation Analysis]
94 Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun 2019;7:3. [PMID: 30611313 DOI: 10.1186/s40478-018-0655-5] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 6.3] [Reference Citation Analysis]
95 Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol 2012;124:575-81. [PMID: 22752422 DOI: 10.1007/s00401-012-1007-3] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
96 Meagher RB, Müssar KJ. The influence of DNA sequence on epigenome-induced pathologies. Epigenetics Chromatin 2012;5:11. [PMID: 22818522 DOI: 10.1186/1756-8935-5-11] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 1.6] [Reference Citation Analysis]
97 Chang X, Wei R, Wei C, Liu J, Qin L, Yan H, Ma Y, Wang Z, Xiong H. Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy. Front Neurol 2022;13:870285. [DOI: 10.3389/fneur.2022.870285] [Reference Citation Analysis]
98 Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT. RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015;22:1094-1112. [PMID: 25960145 DOI: 10.1111/ene.12713] [Cited by in Crossref: 71] [Cited by in F6Publishing: 61] [Article Influence: 10.1] [Reference Citation Analysis]
99 Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet 2018;27:4263-72. [PMID: 30215711 DOI: 10.1093/hmg/ddy320] [Cited by in Crossref: 6] [Cited by in F6Publishing: 13] [Article Influence: 2.0] [Reference Citation Analysis]
100 Yamamoto D, Imai T, Tsuda E, Hozuki T, Yamauchi R, Hisahara S, Kawamata J, Shimohama S. Effect of local cooling on excitation-contraction coupling in myasthenic muscle: Another mechanism of ice-pack test in myasthenia gravis. Clinical Neurophysiology 2017;128:2309-17. [DOI: 10.1016/j.clinph.2017.08.030] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
101 Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T. Prenatal diagnosis of congenital myopathies and muscular dystrophies. Clin Genet 2016;90:199-210. [PMID: 27197572 DOI: 10.1111/cge.12801] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 2.2] [Reference Citation Analysis]
102 Attali R, Aharoni S, Treves S, Rokach O, Becker Cohen M, Fellig Y, Straussberg R, Dor T, Daana M, Mitrani-Rosenbaum S, Nevo Y. Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. PLoS One 2013;8:e69296. [PMID: 23894444 DOI: 10.1371/journal.pone.0069296] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
103 Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, Mcwilliam R, Palace J. Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature. Neuromuscular Disorders 2014;24:1103-10. [DOI: 10.1016/j.nmd.2014.07.005] [Cited by in Crossref: 29] [Cited by in F6Publishing: 23] [Article Influence: 3.6] [Reference Citation Analysis]
104 Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF. Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle Nerve 2011;44:280-2. [PMID: 21755510 DOI: 10.1002/mus.22118] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
105 Treves S, Jungbluth H, Voermans N, Muntoni F, Zorzato F. Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. Semin Cell Dev Biol 2017;64:201-12. [PMID: 27427513 DOI: 10.1016/j.semcdb.2016.07.017] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 2.5] [Reference Citation Analysis]
106 Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D, Manzur A, Muntoni F, Robb SA. RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul Disord 2014;24:707-12. [PMID: 24951453 DOI: 10.1016/j.nmd.2014.05.003] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 3.6] [Reference Citation Analysis]
107 Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, Treves S, Zorzato F. JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor. Hum Mutat 2013;34:184-90. [PMID: 22927026 DOI: 10.1002/humu.22209] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 0.8] [Reference Citation Analysis]
108 Schiemann AH, Roesl C, Pollock N, Langton E, Bulger T, Stowell KM. Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia. J Neuromuscul Dis 2020;7:51-60. [PMID: 31903994 DOI: 10.3233/JND-190430] [Reference Citation Analysis]
109 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]
110 Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Curr Neurol Neurosci Rep 2012;12:165-74. [PMID: 22392505 DOI: 10.1007/s11910-012-0255-x] [Cited by in Crossref: 88] [Cited by in F6Publishing: 74] [Article Influence: 8.8] [Reference Citation Analysis]
111 Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 2012;33:981-8. [PMID: 22473935 DOI: 10.1002/humu.22056] [Cited by in Crossref: 106] [Cited by in F6Publishing: 94] [Article Influence: 10.6] [Reference Citation Analysis]