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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1998 2
1999 3
2000 2
2001 1
2003 1
2004 2
2005 1
2006 2
2008 4
2009 5
2010 2
2011 2
2012 1
2014 5
2015 3
2016 2
2017 2
2018 5
2019 2
2020 8
2021 6
2022 1
2023 5
2024 1

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62 results

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Page 1
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.
Myoclonus-dystonia: an update.
Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E. Kinugawa K, et al. Among authors: clot f. Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425. Mov Disord. 2009. PMID: 19117361 Review.
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.
Genetics of celiac disease.
Clot F, Babron MC. Clot F, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):76-80. doi: 10.1006/mgme.2000.3045. Mol Genet Metab. 2000. PMID: 11001799 Review.
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.
SOD1-related ALS with anticipation in a large family from Martinique.
Giguet-Valard AG, Bellance R, Jeannin S, Duclos S, Olive P, Allard-Saint-Albin O, Cazeneuve C, Clot F, Sophie PV, Barnetche T, Smith-Ravin J, Goizet C. Giguet-Valard AG, et al. Among authors: clot f. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):545-551. doi: 10.1080/21678421.2021.1900870. Epub 2021 Mar 23. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33754899
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.
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
62 results