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Page 1
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. Among authors: jornea l. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
Clot F, Rovelet-Lecrux A, Lamari F, Noël S, Keren B, Camuzat A, Michon A, Jornea L, Laudier B, de Septenville A, Caroppo P, Campion D, Cazeneuve C, Brice A, LeGuern E, Le Ber I; French clinical and genetic research network on FTLD/FTLD-ALS. Clot F, et al. Among authors: jornea l. Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28. Neurogenetics. 2014. PMID: 24469240
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.
Caroppo P, Camuzat A, De Septenville A, Couratier P, Lacomblez L, Auriacombe S, Flabeau O, Jornéa L, Blanc F, Sellal F, Cretin B, Meininger V, Fleury MC, Couarch P, Dubois B, Brice A, Le Ber I. Caroppo P, et al. Among authors: jornea l. Alzheimers Dement (Amst). 2015 Oct 30;1(4):481-6. doi: 10.1016/j.dadm.2015.10.002. eCollection 2015 Dec. Alzheimers Dement (Amst). 2015. PMID: 27239526 Free PMC article.
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Fournier C, Barbier M, Camuzat A, Anquetil V, Lattante S, Clot F, Cazeneuve C, Rinaldi D, Couratier P, Deramecourt V, Sabatelli M, Belliard S, Vercelletto M, Forlani S, Jornea L; French Clinical and Genetic Research Network on FTLD/FTLD-ALS; PREVDEMALS and FTLD-Exome Study Groups; Leguern E, Brice A, Le Ber I. Fournier C, et al. Among authors: jornea l. Neurobiol Aging. 2019 Feb;74:234.e1-234.e8. doi: 10.1016/j.neurobiolaging.2018.09.010. Epub 2018 Sep 19. Neurobiol Aging. 2019. PMID: 30337192 Free article.
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
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.
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.
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.
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
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