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Page 1
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: remerand g. 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.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Among authors: remerand g. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
de Sainte Agathe JM, Monin P, Riccardi F, Nava C, Arnaud L, Mignot C, Ville D, Auvin S, Tardieu S, Larcher K, Gourfinkel-An I, Canon M, Navarro V, Héron B, Julia S, Doummar D, Jacquemont ML, Maurey H, Dozières-Puyravel B, Perrin L, Pasquier L, Dubourg C, Odent S, Bouazzaoui A, Carre W, Fradin M, Demurger F, Chatron N, Sanlaville D, Essid M, Portes VD, Panagiotakaki E, Poulat AL, Rivier C, Sarret C, Remerand G, Altuzarra C, Stoeva R, Nguyen S, Piard J, Boucher É, Flurin V, Guerrot AM, Joriot S, Desnous B, Villeneuve N, Lépine A, Camus CH, Villard L, Faoucher M, Milh M, Lesca G, Leguern É. de Sainte Agathe JM, et al. Among authors: remerand g. Eur J Neurol. 2025 Aug;32(8):e70324. doi: 10.1111/ene.70324. Eur J Neurol. 2025. PMID: 40778729 Free PMC article.
Recanalization Treatments for Pediatric Acute Ischemic Stroke in France.
Kossorotoff M, Kerleroux B, Boulouis G, Husson B, Tran Dong K, Eugene F, Damaj L, Ozanne A, Bellesme C, Rolland A, Bourcier R, Triquenot-Bagan A, Marnat G, Neau JP, Joriot S, Perez A, Guillen M, Perivier M, Audic F, Hak JF, Denier C, Naggara O; KidClot Group. Kossorotoff M, et al. JAMA Netw Open. 2022 Sep 1;5(9):e2231343. doi: 10.1001/jamanetworkopen.2022.31343. JAMA Netw Open. 2022. PMID: 36107427 Free PMC article.
Effect of gestational age on cerebral lesions in neonatal encephalopathy.
Binet L, Debillon T, Beck J, Vilotitch A, Guellec I, Ego A, Chevallier M; LYTONEPAL research group. Binet L, et al. Arch Dis Child Fetal Neonatal Ed. 2024 Aug 16;109(5):562-568. doi: 10.1136/archdischild-2023-326131. Arch Dis Child Fetal Neonatal Ed. 2024. PMID: 38418209
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Among authors: remerand g. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Piarroux J, Riant F, Humbertclaude V, Remerand G, Hadjadj J, Rejou F, Coubes C, Pinson L, Meyer P, Roubertie A. Piarroux J, et al. Among authors: remerand g. Ann Clin Transl Neurol. 2020 Apr;7(4):565-572. doi: 10.1002/acn3.51005. Epub 2020 Mar 12. Ann Clin Transl Neurol. 2020. PMID: 32162847 Free PMC article.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: remerand g. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
16 results