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Page 1
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.
Carneiro F, Saracino D, Huin V, Clot F, Delorme C, Méneret A, Thobois S, Cormier F, Corvol JC, Lenglet T, Vidailhet M, Habert MO, Gabelle A, Beaufils É, Mondon K, Tir M, Andriuta D, Brice A, Deramecourt V, Le Ber I. Carneiro F, et al. Among authors: gabelle a. Parkinsonism Relat Disord. 2020 Nov;80:73-81. doi: 10.1016/j.parkreldis.2020.09.019. Epub 2020 Sep 15. Parkinsonism Relat Disord. 2020. PMID: 32961397
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.
Le Ber I, Guedj E, Gabelle A, Verpillat P, Volteau M, Thomas-Anterion C, Decousus M, Hannequin D, Véra P, Lacomblez L, Camuzat A, Didic M, Puel M, Lotterie JA, Golfier V, Bernard AM, Vercelletto M, Magne C, Sellal F, Namer I, Michel BF, Pasquier J, Salachas F, Bochet J; French research network on FTD/FTD-MND; Brice A, Habert MO, Dubois B. Le Ber I, et al. Among authors: gabelle a. Brain. 2006 Nov;129(Pt 11):3051-65. doi: 10.1093/brain/awl288. Brain. 2006. PMID: 17071924
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnière C, Thauvin C, Frebourg T, Lambert JC, Campion D; PHRC GMAJ Collaborators. Pottier C, et al. Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15. Epub 2012 Apr 3. Mol Psychiatry. 2012. PMID: 22472873
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Moreaud O, Gabelle A, Sellal F, Sauvée M, Laquerrière A, Duyckaerts C, Delisle MB, Streichenberger N, Lannes B, Frebourg T, Hannequin D, Campion D; collaborators of GMAJ project. Wallon D, et al. Among authors: gabelle a. J Alzheimers Dis. 2012;30(4):847-56. doi: 10.3233/JAD-2012-120172. J Alzheimers Dis. 2012. PMID: 22475797
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Dürr A, Brice A; French Parkinson’s Disease Genetics Study Group. Lesage S, et al. Among authors: gabelle a. Brain. 2013 Feb;136(Pt 2):385-91. doi: 10.1093/brain/aws357. Brain. 2013. PMID: 23413259 Free PMC article.
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. Le Ber I, et al. Among authors: gabelle a. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849. JAMA Neurol. 2013. PMID: 24042580 Free PMC article.
Seizures in dominantly inherited Alzheimer disease.
Zarea A, Charbonnier C, Rovelet-Lecrux A, Nicolas G, Rousseau S, Borden A, Pariente J, Le Ber I, Pasquier F, Formaglio M, Martinaud O, Rollin-Sillaire A, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Ceccaldi M, Gabelle A, Chamard L, Blanc F, Sellal F, Paquet C, Campion D, Hannequin D, Wallon D; PHRC GMAJ Collaborators. Zarea A, et al. Among authors: gabelle a. Neurology. 2016 Aug 30;87(9):912-9. doi: 10.1212/WNL.0000000000003048. Epub 2016 Jul 27. Neurology. 2016. PMID: 27466472
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM, Nicolas G, Wallon D, Rovelet-Lecrux A, Lacour M, Rousseau S, Richard AC, Pasquier F, Rollin-Sillaire A, Martinaud O, Quillard-Muraine M, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Félician O, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Chamard L, Vincent JL, Sauvée M, Marelli-Tosi C, Gabelle A, Ozsancak C, Pariente J, Paquet C, Hannequin D, Campion D; collaborators of the CNR-MAJ project. Lanoiselée HM, et al. Among authors: gabelle a. PLoS Med. 2017 Mar 28;14(3):e1002270. doi: 10.1371/journal.pmed.1002270. eCollection 2017 Mar. PLoS Med. 2017. PMID: 28350801 Free PMC article.
N-homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia.
Bossenmeyer-Pourié C, Smith AD, Lehmann S, Deramecourt V, Sablonnière B, Camadro JM, Pourié G, Kerek R, Helle D, Umoret R, Guéant-Rodriguez RM, Rigau V, Gabelle A, Sequeira JM, Quadros EV, Daval JL, Guéant JL. Bossenmeyer-Pourié C, et al. Among authors: gabelle a. J Pathol. 2019 Jul;248(3):291-303. doi: 10.1002/path.5254. Epub 2019 Mar 19. J Pathol. 2019. PMID: 30734924
208 results