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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M. Ravel JM, et al. J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8. J Neurol. 2021. PMID: 33417001
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Hocquel A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M. Hocquel A, et al. Among authors: ravel jm. Neurogenetics. 2022 Oct;23(4):241-255. doi: 10.1007/s10048-022-00695-4. Epub 2022 Jul 5. Neurogenetics. 2022. PMID: 35788923
Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.
Jardel A, Bonnet C, Frismand-Kryloff S, Ravel JM, Schmitt E, Obadia MA, Delassaux S, Bronner M, Poujois A, Renaud M. Jardel A, et al. Among authors: ravel jm. J Neurol. 2022 Dec;269(12):6664-6666. doi: 10.1007/s00415-022-11270-0. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864215 No abstract available.
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: ravel jm. 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.
COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.
Ostaszewski M, Niarakis A, Mazein A, Kuperstein I, Phair R, Orta-Resendiz A, Singh V, Aghamiri SS, Acencio ML, Glaab E, Ruepp A, Fobo G, Montrone C, Brauner B, Frishman G, Monraz Gómez LC, Somers J, Hoch M, Kumar Gupta S, Scheel J, Borlinghaus H, Czauderna T, Schreiber F, Montagud A, Ponce de Leon M, Funahashi A, Hiki Y, Hiroi N, Yamada TG, Dräger A, Renz A, Naveez M, Bocskei Z, Messina F, Börnigen D, Fergusson L, Conti M, Rameil M, Nakonecnij V, Vanhoefer J, Schmiester L, Wang M, Ackerman EE, Shoemaker JE, Zucker J, Oxford K, Teuton J, Kocakaya E, Summak GY, Hanspers K, Kutmon M, Coort S, Eijssen L, Ehrhart F, Rex DAB, Slenter D, Martens M, Pham N, Haw R, Jassal B, Matthews L, Orlic-Milacic M, Senff Ribeiro A, Rothfels K, Shamovsky V, Stephan R, Sevilla C, Varusai T, Ravel JM, Fraser R, Ortseifen V, Marchesi S, Gawron P, Smula E, Heirendt L, Satagopam V, Wu G, Riutta A, Golebiewski M, Owen S, Goble C, Hu X, Overall RW, Maier D, Bauch A, Gyori BM, Bachman JA, Vega C, Grouès V, Vazquez M, Porras P, Licata L, Iannuccelli M, Sacco F, Nesterova A, Yuryev A, de Waard A, Turei D, Luna A, Babur O, Soliman S, Valdeolivas A, Esteban-Medina M, Peña-Chilet M, Rian K, Helikar T, Puniya… See abstract for full author list ➔ Ostaszewski M, et al. Among authors: ravel jm. Mol Syst Biol. 2021 Oct;17(10):e10387. doi: 10.15252/msb.202110387. Mol Syst Biol. 2021. PMID: 34664389 Free PMC article.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Ravel JM, Dreumont N, Mosca P, Smith DEC, Mendes MI, Wiedemann A, Coelho D, Schmitt E, Rivière JB, Tran Mau-Them F, Thevenon J, Kuentz P, Polivka M, Fuchs SA, Kok G, Thauvin-Robinet C, Guéant JL, Salomons GS, Faivre L, Feillet F. Ravel JM, et al. Hum Mutat. 2021 Dec;42(12):1576-1583. doi: 10.1002/humu.24285. Epub 2021 Oct 4. Hum Mutat. 2021. PMID: 34570399
112 results