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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: jornea l. Brain. 2021 Oct 22;144(9):2798-2811. doi: 10.1093/brain/awab171. Brain. 2021. PMID: 34687211
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D, Sellami L, Clot F, Camuzat A, Lamari F, Rucheton B, Benyounes I, Roué-Jagot C, Lagarde J, Sarazin M, Jornea L, Forlani S, LeGuern E, Dubois B, Brice A, Le Ber I. Saracino D, et al. Among authors: jornea l. Neurobiol Aging. 2020 Jan;85:154.e9-154.e11. doi: 10.1016/j.neurobiolaging.2019.06.002. Epub 2019 Jun 10. Neurobiol Aging. 2020. PMID: 31262553
Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Kmetzsch V, Anquetil V, Saracino D, Rinaldi D, Camuzat A, Gareau T, Jornea L, Forlani S, Couratier P, Wallon D, Pasquier F, Robil N, de la Grange P, Moszer I, Le Ber I, Colliot O, Becker E; PREV-DEMALS study group. Kmetzsch V, et al. Among authors: jornea l. J Neurol Neurosurg Psychiatry. 2021 May;92(5):485-493. doi: 10.1136/jnnp-2020-324647. Epub 2020 Nov 25. J Neurol Neurosurg Psychiatry. 2021. PMID: 33239440 Free PMC article.
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: jornea l. 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.
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.
Sellami L, Rucheton B, Ben Younes I, Camuzat A, Saracino D, Rinaldi D, Epelbaum S, Azuar C, Levy R, Auriacombe S, Hannequin D, Pariente J, Barbier M, Boutoleau-Bretonnière C, Couratier P, Pasquier F, Deramecourt V, Sauvée M, Sarazin M, Lagarde J, Roué-Jagot C, Forlani S, Jornea L, David I; French Research Network on FTLD/FTLD-ALS; PREVDEMALS and Predict-PGRN Groups, LeGuern E, Dubois B, Brice A, Clot F, Lamari F, Le Ber I. Sellami L, et al. Among authors: jornea l. Neurobiol Aging. 2020 Jul;91:167.e1-167.e9. doi: 10.1016/j.neurobiolaging.2020.02.014. Epub 2020 Feb 21. Neurobiol Aging. 2020. PMID: 32171590 Free article.
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Huin V, et al. Among authors: jornea l. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Brain. 2020. PMID: 31855245 Free article.
Salivary MicroRNA Signature for Diagnosis of Endometriosis.
Bendifallah S, Suisse S, Puchar A, Delbos L, Poilblanc M, Descamps P, Golfier F, Jornea L, Bouteiller D, Touboul C, Dabi Y, Daraï E. Bendifallah S, et al. Among authors: jornea l. J Clin Med. 2022 Jan 26;11(3):612. doi: 10.3390/jcm11030612. J Clin Med. 2022. PMID: 35160066 Free PMC article.
MicroRNome analysis generates a blood-based signature for endometriosis.
Bendifallah S, Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Daraï E. Bendifallah S, et al. Among authors: jornea l. Sci Rep. 2022 Mar 8;12(1):4051. doi: 10.1038/s41598-022-07771-7. Sci Rep. 2022. PMID: 35260677 Free PMC article. Clinical Trial.
Endometriosis Associated-miRNome Analysis of Blood Samples: A Prospective Study.
Bendifallah S, Dabi Y, Suisse S, Delbos L, Poilblanc M, Descamps P, Golfier F, Jornea L, Bouteiller D, Touboul C, Puchar A, Daraï E. Bendifallah S, et al. Among authors: jornea l. Diagnostics (Basel). 2022 May 5;12(5):1150. doi: 10.3390/diagnostics12051150. Diagnostics (Basel). 2022. PMID: 35626305 Free PMC article.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium, LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: jornea l. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
18 results