Video Upload Options

References

1. Azibani F, Brull A, Arandel L, Beuvin M, Nelson I, Jollet A, Ziat E, PrudhonB, Benkhelifa-Ziyyat S, Bitoun M, Lorain S, Bonne G, Bertrand AT. Gene Therapyvia Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. Mol TherNucleic Acids. 2018 Mar 2;10:376-386. doi: 10.1016/j.omtn.2017.12.012.
2. Barateau A, Vadrot N, Vicart P, Ferreiro A, Mayer M, Héron D, Vigouroux C,Buendia B. A Novel Lamin A Mutant Responsible for Congenital Muscular DystrophyCauses Distinct Abnormalities of the Cell Nucleus. PLoS One. 2017 Jan26;12(1):e0169189. doi: 10.1371/journal.pone.0169189.
3. Bonati U, Bechtel N, Heinimann K, Rutz E, Schneider J, Frank S, Weber P,Fischer D. Congenital muscular dystrophy with dropped head phenotype andcognitive impairment due to a novel mutation in the LMNA gene. NeuromusculDisord. 2014 Jun;24(6):529-32. doi: 10.1016/j.nmd.2014.02.004.
4. D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. Two patients with'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. NeuromusculDisord. 2005 Aug;15(8):521-4.
5. Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K,Sasaki M, Hayashi YK, Nonaka I, Nishino I. A novel mutation in the LMNA genecauses congenital muscular dystrophy with dropped head and brain involvement.Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009.
6. Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Cardiac manifestations of congenitalLMNA-related muscular dystrophy in children: three case reports andrecommendations for care. Cardiol Young. 2017 Aug;27(6):1076-1082. doi:10.1017/S1047951116002079.
7. Karaoglu P, Quizon N, Pergande M, Wang H, Polat AI, Ersen A, Özer E, Willkomm L, Hiz Kurul S, Heredia R, Yis U, Selcen D, Çirak S. Dropped head congenitalmuscular dystrophy caused by de novo mutations in LMNA. Brain Dev. 2017Apr;39(4):361-364. doi: 10.1016/j.braindev.2016.11.002.
8. Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D,Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF. Importanceand challenge of making an early diagnosis in LMNA-related muscular dystrophy.Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839.
9. Pasqualin LM, Reed UC, Costa TV, Quedas E, Albuquerque MA, Resende MB,Rutkowski A, Chadi G, Zanoteli E. Congenital muscular dystrophy with dropped headlinked to the LMNA gene in a Brazilian cohort. Pediatr Neurol. 2014Apr;50(4):400-6. doi: 10.1016/j.pediatrneurol.2013.11.010.
10. Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N. Novel LMNAmutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016.
11. Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF,Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, BaroisA, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F,Guicheney P, Richard P, Bonne G, Estournet B. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi:10.1002/ana.21417.
12. Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V,Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C,Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M,Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P,Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-RoyS, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R;International Standard of Care Committee for Congenital Muscular Dystrophy.Consensus statement on standard of care for congenital muscular dystrophies. JChild Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924.