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Year Number of Results
2008 1
2009 4
2010 4
2011 2
2012 1
2013 1
2014 1
2015 1
2016 2
2017 1
2018 1
2019 4
2020 4
2021 4
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25 results
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Page 1
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N. Bacquet J, et al. Among authors: bonello palot n. BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632. BMJ Open. 2018. PMID: 30373780 Free PMC article.
Refining NGS diagnosis of muscular disorders.
Cerino M, Salort-Campana E, Gorokhova S, Sevy A, Bonello-Palot N, Levy N, Attarian S, Bartoli M, Krahn M. Cerino M, et al. Among authors: bonello palot n. J Neurol Neurosurg Psychiatry. 2021 Feb;92(2):223-225. doi: 10.1136/jnnp-2018-319254. Epub 2020 Sep 15. J Neurol Neurosurg Psychiatry. 2021. PMID: 32934002 No abstract available.
Three Mexican Families with β thalassemia intermedia with different molecular basis.
Torre LDCR, Díaz FJP, Cortés BI, López VMR, López JYS, Anzaldo FJS, Torres MTM, Gonnet K, Badens C, Bonello-Palot N. Torre LDCR, et al. Among authors: bonello palot n. Genet Mol Biol. 2020 Feb 3;42(4):e20190032. doi: 10.1590/1678-4685-GMB-2019-0032. eCollection 2020. Genet Mol Biol. 2020. PMID: 32142096 Free PMC article.
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.
Bonello-Palot N, Laine M, Cuisset T, Ronchard T, Desgrouas C, Merono F, Ibrahim-Kosta M, Cerino M, Blanchard A, Bourgeois P, Levy N, Loundou A, Morange PE, Alessi MC, Badens C, Bonello L. Bonello-Palot N, et al. Atherosclerosis. 2020 Jan;293:86-91. doi: 10.1016/j.atherosclerosis.2019.12.002. Epub 2019 Dec 12. Atherosclerosis. 2020. PMID: 31877397 Free article.
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: bonello palot n. 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.
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
Wu J, Ma S, Sandhoff R, Ming Y, Hotz-Wagenblatt A, Timmerman V, Bonello-Palot N, Schlotter-Weigel B, Auer-Grumbach M, Seeman P, Löscher WN, Reindl M, Weiss F, Mah E, Weisshaar N, Madi A, Mohr K, Schlimbach T, Velasco Cárdenas RM, Koeppel J, Grünschläger F, Müller L, Baumeister M, Brügger B, Schmitt M, Wabnitz G, Samstag Y, Cui G. Wu J, et al. Among authors: bonello palot n. Immunity. 2019 May 21;50(5):1218-1231.e5. doi: 10.1016/j.immuni.2019.03.005. Epub 2019 Apr 2. Immunity. 2019. PMID: 30952607 Free PMC article.
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