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Page 1
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: clot f. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 Free PMC article.
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Khrouf W, Saracino D, Rucheton B, Houot M, Clot F, Rinaldi D, Vitor J, Huynh M, Heng E, Schlemmer D, Pasquier F, Deramecourt V, Auriacombe S, Azuar C, Levy R, Bombois S, Boutoleau-Brétonnière C, Pariente J, Didic M, Wallon D, Fluchère F, Auvin S, Younes IB; French clinical and genetic research network on FTD/FTD-ALS; Predict-PGRN study group; Nadjar Y, Brice A, Dubois B, Bonnefont-Rousselot D, Le Ber I, Lamari F. Khrouf W, et al. Among authors: clot f. Neurobiol Dis. 2023 Jun 1;181:106108. doi: 10.1016/j.nbd.2023.106108. Epub 2023 Mar 30. Neurobiol Dis. 2023. PMID: 37003407 Free article.
Late-onset parkinsonism in a patient with a novel frameshift THAP1 variant.
Courtin E, Poblete NH, Clot F, Guehl D, Burbaud P. Courtin E, et al. Among authors: clot f. Parkinsonism Relat Disord. 2023 Oct 27:105900. doi: 10.1016/j.parkreldis.2023.105900. Online ahead of print. Parkinsonism Relat Disord. 2023. PMID: 37945392 No abstract available.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A; French Parkinson Disease Genetics Study Group. Lesage S, et al. Among authors: clot f. Ann Neurol. 2020 Oct;88(4):843-850. doi: 10.1002/ana.25787. Epub 2020 Jul 28. Ann Neurol. 2020. PMID: 33045815 Free PMC article.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D. de Sainte Agathe JM, et al. Among authors: clot f. Hum Genomics. 2023 Feb 10;17(1):7. doi: 10.1186/s40246-023-00451-1. Hum Genomics. 2023. PMID: 36765386 Free PMC article. Review.
Patient and Context Factors in the Adoption of Active Surveillance for Low-Risk Prostate Cancer.
Ciccone G, De Luca S, Oderda M, Munoz F, Krengli M, Allis S, Baima CG, Barale M, Bartoncini S, Beldì D, Bellei L, Bellissimo AR, Bernardi D, Biamino G, Billia M, Borsa R, Cante D, Castelli E, Cattaneo G, Centrella D, Collura D, Coppola P, Dalmasso E, Di Stasio A, Fasolis G, Fiorio M, Garibaldi E, Girelli G, Griffa D, Guercio S, Migliari R, Molinaro L, Montefiore F, Montefusco G, Moroni M, Muto G, Ponti di Sant'Angelo F, Ruggiero L, Ruo Redda MG, Serao A, Squeo MS, Stancati S, Surleti D, Varvello F, Volpe A, Zaramella S, Zarrelli G, Zitella A, Bollito E, Gontero P, Porpiglia F, Galassi C, Bertetto O; START Collaborative Group. Ciccone G, et al. JAMA Netw Open. 2023 Oct 2;6(10):e2338039. doi: 10.1001/jamanetworkopen.2023.38039. JAMA Netw Open. 2023. PMID: 37847502 Free PMC article.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, Manzoni C, Camu W, Cazeneuve C, Sellal F, Didic M, Golfier V, Pasquier F, Duyckaerts C, Rossi G, Bruni AC, Alvarez V, Gómez-Tortosa E, de Mendonça A, Graff C, Masellis M, Nacmias B, Oumoussa BM, Jornea L, Forlani S; French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU -EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network, Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS; Van Deerlin V, Rohrer JD, Gelpi E, Rademakers R, Van Swieten J, Le Guern E, Van Broeckhoven C, Ferrari R, Génin E, Brice A, Le Ber I. Barbier M, et al. Among authors: clot f. Brain. 2021 Oct 22;144(9):2798-2811. doi: 10.1093/brain/awab171. Brain. 2021. PMID: 34687211
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Zech M, et al. Among authors: clot f. Mov Disord. 2022 Jan;37(1):137-147. doi: 10.1002/mds.28804. Epub 2021 Oct 1. Mov Disord. 2022. PMID: 34596301
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications.
Saracino D, Dorgham K, Camuzat A, Rinaldi D, Rametti-Lacroux A, Houot M, Clot F, Martin-Hardy P, Jornea L, Azuar C, Migliaccio R, Pasquier F, Couratier P, Auriacombe S, Sauvée M, Boutoleau-Bretonnière C, Pariente J, Didic M, Hannequin D, Wallon D; French Research Network on FTD/FTD-ALS; PREV-DEMALS and Predict-PGRN study groups; Colliot O, Dubois B, Brice A, Levy R, Forlani S, Le Ber I. Saracino D, et al. Among authors: clot f. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1278-1288. doi: 10.1136/jnnp-2021-326914. Epub 2021 Aug 4. J Neurol Neurosurg Psychiatry. 2021. PMID: 34349004 Free PMC article.
62 results