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434 results

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Page 1
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Casse F, Courtin T, Tesson C, Ferrien M, Noël S, Fauret-Amsellem AL, Gareau T, Guegan J, Anheim M, Mariani LL, Le Forestier N, Tranchant C, Corvol JC, Lesage S, Brice A; French Parkinson's disease genetics study group (PDG). Casse F, et al. Among authors: tranchant c. Mov Disord Clin Pract. 2023 Mar 7;10(4):664-669. doi: 10.1002/mdc3.13699. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070044 Free PMC article.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: tranchant c. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: tranchant c. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
Trial of Deferiprone in Parkinson's Disease.
Devos D, Labreuche J, Rascol O, Corvol JC, Duhamel A, Guyon Delannoy P, Poewe W, Compta Y, Pavese N, Růžička E, Dušek P, Post B, Bloem BR, Berg D, Maetzler W, Otto M, Habert MO, Lehericy S, Ferreira J, Dodel R, Tranchant C, Eusebio A, Thobois S, Marques AR, Meissner WG, Ory-Magne F, Walter U, de Bie RMA, Gago M, Vilas D, Kulisevsky J, Januario C, Coelho MVS, Behnke S, Worth P, Seppi K, Ouk T, Potey C, Leclercq C, Viard R, Kuchcinski G, Lopes R, Pruvo JP, Pigny P, Garçon G, Simonin O, Carpentier J, Rolland AS, Nyholm D, Scherfler C, Mangin JF, Chupin M, Bordet R, Dexter DT, Fradette C, Spino M, Tricta F, Ayton S, Bush AI, Devedjian JC, Duce JA, Cabantchik I, Defebvre L, Deplanque D, Moreau C; FAIRPARK-II Study Group. Devos D, et al. Among authors: tranchant c. N Engl J Med. 2022 Dec 1;387(22):2045-2055. doi: 10.1056/NEJMoa2209254. N Engl J Med. 2022. PMID: 36449420 Clinical Trial.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Among authors: tranchant c. Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20. Mov Disord. 2023. PMID: 37470282
Trial of Botulinum Toxin for Isolated or Essential Head Tremor.
Marques A, Pereira B, Simonetta-Moreau M, Castelnovo G, De Verdal M, Fluchère F, Laurencin C, Degos B, Tir M, Kreisler A, Blanchet-Fourcade G, Guehl D, Colin O, Poujois A, Sangla S, Tatu L, Derost P, Gayraud D, Tranchant C, Amarantini D, Devos D, Rascol O, Corvol JC, Durif F, Rieu I; Btx-HT Study Group. Marques A, et al. Among authors: tranchant c. N Engl J Med. 2023 Nov 9;389(19):1753-1765. doi: 10.1056/NEJMoa2304192. N Engl J Med. 2023. PMID: 37937777 Clinical Trial.
Date palm (Phoenix dactylifera) bioactive constituents and their applications as natural multifunctional ingredients in health-promoting foods and nutraceuticals: A comprehensive review.
Alu'datt MH, Rababah T, Tranchant CC, Al-U'datt D, Gammoh S, Alrosan M, Bani-Melhem K, Aldughpassi A, Alkandari D, AbuJalban D. Alu'datt MH, et al. Among authors: tranchant cc. Compr Rev Food Sci Food Saf. 2025 Jan;24(1):e70084. doi: 10.1111/1541-4337.70084. Compr Rev Food Sci Food Saf. 2025. PMID: 39676494 Review.
Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.
Tarrano C, Galléa C, Delorme C, McGovern EM, Atkinson-Clement C, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkowiak P, Houeto JL, Degardin A, Defebvre L, Beranger B, Martino D, Apartis E, Vidailhet M, Roze E, Worbe Y. Tarrano C, et al. Among authors: tranchant c. Sci Rep. 2024 Sep 27;14(1):22341. doi: 10.1038/s41598-024-73386-9. Sci Rep. 2024. PMID: 39333780 Free PMC article.
434 results