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Items: 1 to 20 of 69

1.

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Barbier M, Camuzat A, Houot M, Clot F, Caroppo P, Fournier C, Rinaldi D, Pasquier F, Hannequin D, Pariente J, Larcher K; French Clinical and Genetic Research Network on FTD/FTD-ALS*; Predict-PGRN & PrevDemAls Study Groups†, Brice A, Génin E, Sabbagh A, Le Ber I.

Neurol Genet. 2017 Dec 13;3(6):e203. doi: 10.1212/NXG.0000000000000203. eCollection 2017 Dec.

2.

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A, Fournier C, Fontanella S, Routier A, Couratier P, Pasquier F, Habert MO, Hannequin D, Martinaud O, Caroppo P, Levy R, Dubois B, Brice A, Durrleman S, Colliot O, Le Ber I; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group.

JAMA Neurol. 2017 Dec 2. doi: 10.1001/jamaneurol.2017.4266. [Epub ahead of print]

PMID:
29197216
3.

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.

Papegaey A, Eddarkaoui S, Deramecourt V, Fernandez-Gomez FJ, Pantano P, Obriot H, Machala C, Anquetil V, Camuzat A, Brice A, Maurage CA, Le Ber I, Duyckaerts C, Buée L, Sergeant N, Buée-Scherrer V.

Acta Neuropathol Commun. 2016 Jul 19;4(1):74. doi: 10.1186/s40478-016-0345-0.

4.

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, Teichmann M, Golfier V, Auriacombe S, Belliard S, Laurent B, Lattante S, Millecamps S, Clot F, Dubois B, van Swieten JC, Brice A, Le Ber I.

Neurol Genet. 2016 May 26;2(3):e80. doi: 10.1212/NXG.0000000000000080. eCollection 2016 Jun.

5.

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.

Alzheimers Dement (Amst). 2015 Oct 30;1(4):481-6. doi: 10.1016/j.dadm.2015.10.002. eCollection 2015 Dec.

6.

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

Le Ber I, De Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, Blanc F, Lacomblez L, Sellal F, Fleury MC, Meininger V, Cazeneuve C, Clot F, Flabeau O, LeGuern E, Brice A; French Clinical and Genetic Research Network on FTLD/FTLD-ALS.

Neurobiol Aging. 2015 Nov;36(11):3116.e5-3116.e8. doi: 10.1016/j.neurobiolaging.2015.08.009. Epub 2015 Aug 14.

PMID:
26476236
7.

Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease?

Caroppo P, Habert MO, Durrleman S, Funkiewiez A, Perlbarg V, Hahn V, Bertin H, Gaubert M, Routier A, Hannequin D, Deramecourt V, Pasquier F, Rivaud-Pechoux S, Vercelletto M, Edouart G, Valabregue R, Lejeune P, Didic M, Corvol JC, Benali H, Lehericy S, Dubois B, Colliot O, Brice A, Le Ber I; Predict-PGRN study group.

J Alzheimers Dis. 2015;47(3):751-9. doi: 10.3233/JAD-150270.

8.

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.

JAMA Neurol. 2015 Feb;72(2):224-8. doi: 10.1001/jamaneurol.2014.3308.

PMID:
25546130
9.

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin.

Caroppo P, Le Ber I, Camuzat A, Clot F, Naccache L, Lamari F, De Septenville A, Bertrand A, Belliard S, Hannequin D, Colliot O, Brice A.

JAMA Neurol. 2014 Dec;71(12):1562-6. doi: 10.1001/jamaneurol.2014.1316.

PMID:
25317628
10.

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D; French research network on FTD and FTD-ALS, Brice A, Marie Y, Le Ber I.

Neurobiol Aging. 2014 Dec;35(12):2882.e13-2882.e15. doi: 10.1016/j.neurobiolaging.2014.07.016. Epub 2014 Jul 18.

PMID:
25158920
11.

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G; French research network on FTD and FTD-ALS, Brice A, Pouget J, Paquis-Flucklinger V.

Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24.

PMID:
25155093
12.

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M.

J Alzheimers Dis. 2015;43(2):625-30. doi: 10.3233/JAD-141512.

13.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.

14.

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.

Lattante S, Le Ber I, Galimberti D, Serpente M, Rivaud-Péchoux S, Camuzat A, Clot F, Fenoglio C; French research network on FTD and FTD-ALS, Scarpini E, Brice A, Kabashi E.

Neurobiol Aging. 2014 Nov;35(11):2658.e1-2658.e5. doi: 10.1016/j.neurobiolaging.2014.06.023. Epub 2014 Jun 28.

PMID:
25085782
15.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

16.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A.

Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18.

17.

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.

Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28.

PMID:
24469240
18.

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.

Caroppo P, Le Ber I, Clot F, Rivaud-Péchoux S, Camuzat A, De Septenville A, Boutoleau-Bretonnière C, Mourlon V, Sauvée M, Lebouvier T, Bonnet AM, Levy R, Vercelletto M, Brice A; French Clinical and Genetic Research Network on Frontotemporal Dementia/Frontotemporal Dementia–Amyotrophic Lateral Sclerosis.

JAMA Neurol. 2014 Feb;71(2):208-15. doi: 10.1001/jamaneurol.2013.5100.

19.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A; French research Network on FTLD/FTLD-ALS.

Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9.

PMID:
24119545
20.

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS.

JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849.

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