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Page 1
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Clarke NF, et al. Among authors: monnier n. Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308. Ann Neurol. 2008. PMID: 18300303
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Waddell LB, et al. Among authors: monnier n. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15. Neuromuscul Disord. 2010. PMID: 20554445
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
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. Clarke NF, et al. Among authors: monnier n. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278. Hum Mutat. 2010. PMID: 20583297
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. Mokbel N, et al. Among authors: monnier n. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31. Brain. 2013. PMID: 23378224 Free article.
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. Clarke NF, et al. Among authors: monnier n. Neuromuscul Disord. 2013 May;23(5):432-6. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9. Neuromuscul Disord. 2013. PMID: 23478172 Free PMC article.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Among authors: monnier n. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: monnier n. Ann Neurol. 2002 Jun;51(6):750-9. doi: 10.1002/ana.10231. Ann Neurol. 2002. PMID: 12112081
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Laing NG, et al. Among authors: monnier n. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.
119 results