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New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.
Viodé A, Fournier C, Camuzat A, Fenaille F; NeuroCEB Brain Bank; Latouche M, Elahi F, Le Ber I, Junot C, Lamari F, Anquetil V, Becher F. Viodé A, et al. Among authors: lamari f. Front Neurosci. 2018 Aug 28;12:589. doi: 10.3389/fnins.2018.00589. eCollection 2018. Front Neurosci. 2018. PMID: 30210275 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: lamari f. Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28. Neurogenetics. 2014. PMID: 24469240
Posterior cortical atrophy as an extreme phenotype of GRN mutations.
Caroppo P, Belin C, Grabli D, Maillet D, De Septenville A, Migliaccio R, Clot F, Lamari F, Camuzat A, Brice A, Dubois B, Le Ber I. Caroppo P, et al. Among authors: lamari f. JAMA Neurol. 2015 Feb;72(2):224-8. doi: 10.1001/jamaneurol.2014.3308. JAMA Neurol. 2015. PMID: 25546130
Targeted versus untargeted omics - the CAFSA story.
Del Mar Amador M, Colsch B, Lamari F, Jardel C, Ichou F, Rastetter A, Sedel F, Jourdan F, Frainay C, Wevers RA, Roze E, Depienne C, Junot C, Mochel F. Del Mar Amador M, et al. Among authors: lamari f. J Inherit Metab Dis. 2018 May;41(3):447-456. doi: 10.1007/s10545-017-0134-3. Epub 2018 Feb 8. J Inherit Metab Dis. 2018. PMID: 29423831
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: lamari f. 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
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: lamari f. 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: lamari f. 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.
215 results