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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: riant f. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: riant f. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: riant f. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
Cousyn L, Demeret S, Philippi A, Bergametti F, Villa C, Morbini P, Riant F, Soulier J, Tournier-Lasserve E, Denier C. Cousyn L, et al. Among authors: riant f. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):98-100. doi: 10.1136/jnnp-2023-331260. J Neurol Neurosurg Psychiatry. 2023. PMID: 37451692 No abstract available.
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Guey S, Hervé D, Kossorotoff M, Ha G, Aloui C, Bergametti F, Arnould M, Guenou H, Hadjadj J, Dubois Teklali F, Riant F, Balligand JL, Uzan G, Villoutreix BO, Tournier-Lasserve E. Guey S, et al. Among authors: riant f. Hum Genomics. 2023 Mar 20;17(1):24. doi: 10.1186/s40246-023-00471-x. Hum Genomics. 2023. PMID: 36941667 Free PMC article.
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.
Tauziède-Espariat A, Pierre T, Wassef M, Castel D, Riant F, Grill J, Roux A, Pallud J, Dezamis E, Bresson D, Benichi S, Blauwblomme T, Benzohra D, Gauchotte G, Pouget C, Colnat-Coulbois S, Mokhtari K, Balleyguier C, Larousserie F, Dangouloff-Ros V, Boddaert N, Debily MA, Hasty L, Polivka M, Adle-Biassette H, Métais A, Lechapt E, Chrétien F, Sahm F, Sievers P, Varlet P; RENOCLIP-LOC. Tauziède-Espariat A, et al. Among authors: riant f. Acta Neuropathol Commun. 2022 May 31;10(1):81. doi: 10.1186/s40478-022-01384-x. Acta Neuropathol Commun. 2022. PMID: 35642047 Free PMC article.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Méneret A, Mohammad SS, Cif L, Doummar D, DeGusmao C, Anheim M, Barth M, Damier P, Demonceau N, Friedman J, Gallea C, Gras D, Gurgel-Giannetti J, Innes EA, Necpál J, Riant F, Sagnes S, Sarret C, Seliverstov Y, Paramanandam V, Shetty K, Tranchant C, Doulazmi M, Vidailhet M, Pringsheim T, Roze E. Méneret A, et al. Among authors: riant f. Mov Disord. 2022 Jun;37(6):1294-1298. doi: 10.1002/mds.29006. Epub 2022 Apr 5. Mov Disord. 2022. PMID: 35384065
Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia.
Ekmen A, Meneret A, Valabregue R, Beranger B, Worbe Y, Lamy JC, Mehdi S, Herve A, Adanyeguh I, Temiz G, Damier P, Gras D, Roubertie A, Piard J, Navarro V, Mutez E, Riant F, Welniarz Q, Vidailhet M, Lehericy S, Meunier S, Gallea C, Roze E. Ekmen A, et al. Among authors: riant f. Neurology. 2022 Mar 8;98(10):e1077-e1089. doi: 10.1212/WNL.0000000000200060. Epub 2022 Jan 20. Neurology. 2022. PMID: 35058336
79 results