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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. Among authors: rochat j. 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.
A National Survey Comparing Patients' and Transplant Professionals' Research Priorities in the Swiss Transplant Cohort Study.
Beckmann S, Mauthner O, Schick L, Rochat J, Lovis C, Boehler A, Binet I, Huynh-Do U, De Geest S; Psychosocial Interest Group; Swiss Transplant Cohort Study. Beckmann S, et al. Among authors: rochat j. Transpl Int. 2022 May 18;35:10255. doi: 10.3389/ti.2022.10255. eCollection 2022. Transpl Int. 2022. PMID: 35664427 Free PMC article.
FAIR4Health: Findable, Accessible, Interoperable and Reusable data to foster Health Research.
Alvarez-Romero C, Martínez-García A, Sinaci AA, Gencturk M, Méndez E, Hernández-Pérez T, Liperoti R, Angioletti C, Löbe M, Ganapathy N, Deserno TM, Almada M, Costa E, Chronaki C, Cangioli G, Cornet R, Poblador-Plou B, Carmona-Pírez J, Gimeno-Miguel A, Poncel-Falcó A, Prados-Torres A, Kovacevic T, Zaric B, Bokan D, Hromis S, Djekic Malbasa J, Rapallo Fernández C, Velázquez Fernández T, Rochat J, Gaudet-Blavignac C, Lovis C, Weber P, Quintero M, Perez-Perez MM, Ashley K, Horton L, Parra Calderón CL. Alvarez-Romero C, et al. Among authors: rochat j. Open Res Eur. 2022 May 31;2:34. doi: 10.12688/openreseurope.14349.2. eCollection 2022. Open Res Eur. 2022. PMID: 37645268 Free PMC article.
49 results