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A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. Pareyson D, et al. Among authors: attarian s. Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27. Ann Neurol. 2019. PMID: 31070812 Free PMC article.
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N. Mortreux J, et al. Among authors: attarian s. J Hum Genet. 2020 Mar;65(3):313-323. doi: 10.1038/s10038-019-0710-5. Epub 2019 Dec 18. J Hum Genet. 2020. PMID: 31852984
Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.
Solé G, Salort-Campana E, Pereon Y, Stojkovic T, Wahbi K, Cintas P, Adams D, Laforet P, Tiffreau V, Desguerre I, Pisella LI, Molon A, Attarian S; FILNEMUS COVID-19 study group. Solé G, et al. Among authors: attarian s. Rev Neurol (Paris). 2020 Jun;176(6):507-515. doi: 10.1016/j.neurol.2020.04.004. Epub 2020 Apr 20. Rev Neurol (Paris). 2020. PMID: 32354651 Free PMC article.
Treatment of Charcot-Marie-Tooth neuropathies.
Beloribi-Djefaflia S, Attarian S. Beloribi-Djefaflia S, et al. Among authors: attarian s. Rev Neurol (Paris). 2023 Jan-Feb;179(1-2):35-48. doi: 10.1016/j.neurol.2022.11.006. Epub 2022 Dec 30. Rev Neurol (Paris). 2023. PMID: 36588067 Review.
315 results