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Page 1
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: lammens m. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. Ravenscroft G, et al. Among authors: lammens m. Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746549 Free PMC article.
A new phenotype of autosomal dominant nemaline myopathy.
Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ. Gommans IM, et al. Among authors: lammens m. Neuromuscul Disord. 2002 Jan;12(1):13-8. doi: 10.1016/s0960-8966(01)00231-0. Neuromuscul Disord. 2002. PMID: 11731279
Mutations in TPM2 and congenital fibre type disproportion.
Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, Kornberg A, Lammens M, North KN. Clarke NF, et al. Among authors: lammens m. Neuromuscul Disord. 2012 Nov;22(11):955-8. doi: 10.1016/j.nmd.2012.06.002. Epub 2012 Jul 24. Neuromuscul Disord. 2012. PMID: 22832343
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
Bonnin E, Cabochette P, Filosa A, Jühlen R, Komatsuzaki S, Hezwani M, Dickmanns A, Martinelli V, Vermeersch M, Supply L, Martins N, Pirenne L, Ravenscroft G, Lombard M, Port S, Spillner C, Janssens S, Roets E, Van Dorpe J, Lammens M, Kehlenbach RH, Ficner R, Laing NG, Hoffmann K, Vanhollebeke B, Fahrenkrog B. Bonnin E, et al. Among authors: lammens m. PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30543681 Free PMC article.
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Olivé M, et al. Among authors: lammens m. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Nat Commun. 2019. PMID: 30918256 Free PMC article.
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Janssen MC, et al. Among authors: lammens m. Eur J Hum Genet. 2013 Aug;21(8):807-15. doi: 10.1038/ejhg.2012.256. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232698 Free PMC article.
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A. Wallgren-Pettersson C, et al. Among authors: lammens m. Neuromuscul Disord. 1999 Dec;9(8):564-72. doi: 10.1016/s0960-8966(99)00061-9. Neuromuscul Disord. 1999. PMID: 10619714
222 results