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Page 1
Turning unreactive copper acetylides into remarkably powerful and mild alkyne transfer reagents by oxidative umpolung.
Evano G, Jouvin K, Theunissen C, Guissart C, Laouiti A, Tresse C, Heimburger J, Bouhoute Y, Veillard R, Lecomte M, Nitelet A, Schweizer S, Blanchard N, Alayrac C, Gaumont AC. Evano G, et al. Among authors: guissart c. Chem Commun (Camb). 2014 Sep 11;50(70):10008-18. doi: 10.1039/c4cc03198a. Chem Commun (Camb). 2014. PMID: 24911768 Review.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
Guissart C, De la Cruz E, Flabeau O, Grapperon AM, Corazza G, Junilhon L, Delmas JC, Millecamps S, Polge A, Amador MDM, Salachas F, Rochat J, Goizet C, Juntas Morales R, Lumbroso S, Philibert P, Cheillan D, Mouzat K. Guissart C, et al. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):288-290. doi: 10.1136/jnnp-2023-331753. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041669 No abstract available.
Discovering the ANK2-related autism phenotype.
Guissart C, Polge A, Durand N, Miret A, Lumbroso S, Francannet C, Mouzat K. Guissart C, et al. Clin Genet. 2023 Sep;104(3):384-386. doi: 10.1111/cge.14347. Epub 2023 Apr 23. Clin Genet. 2023. PMID: 37088467
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC. Liautard-Haag C, et al. Among authors: guissart c. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2. Sci Rep. 2022. PMID: 35794169 Free PMC article.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: guissart c. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Collier JJ, et al. Among authors: guissart c. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. N Engl J Med. 2021. PMID: 34161705 Free PMC article.
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network. Rebelo AP, et al. Among authors: guissart c. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. Brain. 2021. PMID: 33889951
37 results