Bonello-Palot N - Search Results

1

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, Bonello-Palot N. Morel V, et al. Among authors: bonello palot n. Clin Genet. 2022 Nov;102(5):379-390. doi: 10.1111/cge.14198. Epub 2022 Aug 16. Clin Genet. 2022. PMID: 35882622 Free PMC article. Review.

2

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode.

Merono F, Agouti I, Bonello-Palot N, Paolasso C, Levy N, Badens C. Merono F, et al. Clin Biochem. 2011 Apr;44(5-6):441-3. doi: 10.1016/j.clinbiochem.2010.12.007. Epub 2010 Dec 28. Clin Biochem. 2011. PMID: 21192923

3

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V. Boubaker C, et al. Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2. Ann Hum Genet. 2013. PMID: 23550889

4

Prelamin A accumulation in endothelial cells induces premature senescence and functional impairment.

Bonello-Palot N, Simoncini S, Robert S, Bourgeois P, Sabatier F, Levy N, Dignat-George F, Badens C. Bonello-Palot N, et al. Atherosclerosis. 2014 Nov;237(1):45-52. doi: 10.1016/j.atherosclerosis.2014.08.036. Epub 2014 Aug 28. Atherosclerosis. 2014. PMID: 25200614

5

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Di Meglio C, Bonello-Palot N, Boulay C, Milh M, Ovaert C, Levy N, Chabrol B. Di Meglio C, et al. Brain Dev. 2016 May;38(5):498-506. doi: 10.1016/j.braindev.2015.11.006. Epub 2015 Dec 10. Brain Dev. 2016. PMID: 26686600

6

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations.

Hoebeke C, Bonello-Palot N, Audic F, Boulay C, Tufod D, Attarian S, Chabrol B. Hoebeke C, et al. Arch Pediatr. 2018 Nov;25(8):452-458. doi: 10.1016/j.arcped.2018.09.006. Epub 2018 Oct 16. Arch Pediatr. 2018. PMID: 30340945

7

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. BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632. BMJ Open. 2018. PMID: 30373780 Free PMC article.

8

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. 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.

9

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

Falcão de Campos C, Vidailhet M, Toutain A, de Becdelièvre A, Funalot B, Bonello-Palot N, Stojkovic T. Falcão de Campos C, et al. J Peripher Nerv Syst. 2019 Dec;24(4):354-358. doi: 10.1111/jns.12352. Epub 2019 Oct 9. J Peripher Nerv Syst. 2019. PMID: 31596031

10

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. 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

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