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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 4
2010 4
2011 2
2012 2
2013 2
2014 1
2015 1
2016 2
2017 2
2018 2
2019 5
2020 7
2021 6
2022 4
2023 5
2024 2

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42 results

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Page 1
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: bonello palot n. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N, Fernández-Eulate G, Pegat A, Théaudin M, Guieu R, Ripellino P, Devedjian M, Mace P, Masingue M, Léonard-Louis S, Petiot P, Roche P, Bernard E, Bouhour F, Good JM, Verschueren A, Grapperon AM, Salort E, Grosset A, Chanson JB, Nadaj-Pakleza A, Bédat-Millet AL, Choumert A, Barnier A, Hamdi G, Lesca G, Prieur F, Bruneel A, Latour P, Stojkovic T, Attarian S, Bonello-Palot N. Pons N, et al. Among authors: bonello palot n. Eur J Neurol. 2023 Jul;30(7):2001-2011. doi: 10.1111/ene.15793. Epub 2023 Apr 4. Eur J Neurol. 2023. PMID: 36943151
[Next-generation DNA sequencing in clinical diagnostics].
Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-Palot N, Badens C, Bourgeois P. Lacoste C, et al. Among authors: bonello palot n. Arch Pediatr. 2017 Apr;24(4):373-383. doi: 10.1016/j.arcped.2017.01.008. Epub 2017 Feb 24. Arch Pediatr. 2017. PMID: 28242148 Review. French.
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.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Barbat du Closel L, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Nadaj-Pakleza A, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Leonard Louis S, Gravier Dumonceau R, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Among authors: bonello palot n. Eur J Neurol. 2023 Oct;30(10):3265-3276. doi: 10.1111/ene.15937. Epub 2023 Jul 5. Eur J Neurol. 2023. PMID: 37335503
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.
Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S, Morales RJ, Fatehi F, Isapof A, Servais L, Leonard-Louis S, Michaud M, Verdure P, Gidaro T, Pouget J, Poinsignon V, Bonello-Palot N, Attarian S. Beloribi-Djefaflia S, et al. Among authors: bonello palot n. J Neurol. 2024 Mar;271(3):1355-1365. doi: 10.1007/s00415-023-12076-4. Epub 2023 Nov 11. J Neurol. 2024. PMID: 37950760
A novel SUPT5H variant associated with a beta-thalassaemia trait.
Charnay T, Cerino M, Gonnet K, Bonello-Palot N, Bréchard MP, Badens C. Charnay T, et al. Among authors: bonello palot n. Br J Haematol. 2022 Mar;196(6):e70-e71. doi: 10.1111/bjh.17985. Epub 2021 Dec 1. Br J Haematol. 2022. PMID: 34854076 No abstract available.
42 results