Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

28 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: poinsignon v. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Hebrard B, Babonneau ML, Charron P, Consolino E, Dauriat B, Dupin-Deguine D, Fargeaud D, Farrugia A, Giguet-Valard AG, Guijarro D, Inamo J, Jeanneteau J, Mazzella JM, Michon CC, Millat G, Mouquet F, Oghina S, Pereon Y, Poinsignon V, Pompougnac J, Proukhnitzky J, Schaefer E, Sturtz F, Trosdorf M, Auguste A, Canali G, Combes A, Funalot B, Damy T. Hebrard B, et al. Among authors: poinsignon v. Orphanet J Rare Dis. 2024 Oct 29;19(1):403. doi: 10.1186/s13023-024-03370-z. Orphanet J Rare Dis. 2024. PMID: 39472905 Free PMC article.
Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.
Konecki C, Francou B, Chappell K, Augey L, Beaudonnet G, Cauquil C, Dimitri-Boulos D, Not A, Adam C, Poinsignon V, Verstuyft C, Adams D, Echaniz-Laguna A, Labeyrie C. Konecki C, et al. Among authors: poinsignon v. Eur J Neurol. 2024 Dec;31(12):e16461. doi: 10.1111/ene.16461. Epub 2024 Sep 4. Eur J Neurol. 2024. PMID: 39230471 Free PMC article.
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: poinsignon v. J Neurol. 2024 Mar;271(3):1355-1365. doi: 10.1007/s00415-023-12076-4. Epub 2023 Nov 11. J Neurol. 2024. PMID: 37950760 Free article.
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
Fargeot G, Echaniz-Laguna A, Labeyrie C, Svahn J, Camdessanché JP, Cintas P, Chanson JB, Esselin F, Piedvache C, Verstuyft C, Genestet S, Lagrange E, Magy L, Péréon Y, Sacconi S, Signate A, Nadaj-Pakleza A, Taithe F, Viala K, Tard C, Poinsignon V, Cauquil C, Attarian S, Adams D. Fargeot G, et al. Among authors: poinsignon v. Amyloid. 2024 Mar;31(1):62-69. doi: 10.1080/13506129.2023.2270661. Epub 2023 Oct 19. Amyloid. 2024. PMID: 37855400
The GG genotype of the serotonin 4 receptor genetic polymorphism, rs1345697, is associated with lower remission rates after antidepressant treatment: Findings from the METADAP cohort.
Poinsignon V, Colle R, Asmar KE, Mendez-David I, David DJ, Ait Tayeb AEK, Chappell K, Gressier F, Herrero H, Fève B, Becquemont L, Corruble E, Verstuyft C. Poinsignon V, et al. J Affect Disord. 2022 Feb 15;299:335-343. doi: 10.1016/j.jad.2021.12.012. Epub 2021 Dec 11. J Affect Disord. 2022. PMID: 34906639
28 results