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Page 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: esselin f. 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.
Immune-mediated diseases involving central and peripheral nervous systems.
Leboyan A, Esselin F, Bascou AL, Duflos C, Ion I, Charif M, Castelnovo G, Carra-Dalliere C, Ayrignac X, Kerschen P, Chbicheb M, Nguyen L, Maria ATJ, Guilpain P, Carriere M, de Champfleur NM, Vincent T, Jentzer A, Labauge P, Devaux JJ, Taieb G. Leboyan A, et al. Among authors: esselin f. Eur J Neurol. 2023 Feb;30(2):490-500. doi: 10.1111/ene.15628. Epub 2022 Nov 27. Eur J Neurol. 2023. PMID: 36366904
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Behin A, Sole G, Noury JB, Sacconi S, Magot A, Nadaj-Pakleza A, Lacour A, Beltran S, Spinazzi M, Cintas P, Renard D, Michaud M, Bedat-Millet AL, Prigent H, Taouagh N, Arrassi A, Hamroun D, Attarian S, Laforêt P; for Pompe Study Group. Lefeuvre C, et al. Neurology. 2023 Aug 29;101(9):e966-e977. doi: 10.1212/WNL.0000000000207547. Epub 2023 Jul 7. Neurology. 2023. PMID: 37419682
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: esselin f. Amyloid. 2024 Mar;31(1):62-69. doi: 10.1080/13506129.2023.2270661. Epub 2023 Oct 19. Amyloid. 2024. PMID: 37855400
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: esselin f. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
23 results