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Items: 41

1.

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P.

Clin Chem. 2019 Jul 10. pii: clinchem.2019.304246. doi: 10.1373/clinchem.2019.304246. [Epub ahead of print]

PMID:
31292136
2.

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group , Frebourg T, Hannequin D, Campion D, Nicolas G.

Brain. 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095.

PMID:
31009047
3.

Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene.

Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C.

Stem Cell Res. 2019 May;37:101438. doi: 10.1016/j.scr.2019.101438. Epub 2019 Apr 15.

4.

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T; FREX Consortium, Campion D, Hébert SS, Rovelet-Lecrux A.

J Alzheimers Dis. 2019;68(3):1243-1255. doi: 10.3233/JAD-180940.

PMID:
30909216
5.

Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene.

Auboyer L, Monzo C, Wallon D, Rovelet-Lecrux A, Gabelle A, Gazagne I, Cacheux V, Lehmann S, Crozet C.

Stem Cell Res. 2019 Jan;34:101381. doi: 10.1016/j.scr.2018.101381. Epub 2019 Jan 3.

6.

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Le Guennec K, Veugelen S, Quenez O, Szaruga M, Rousseau S, Nicolas G, Wallon D, Fluchere F, Frébourg T, De Strooper B, Campion D, Chávez-Gutiérrez L, Rovelet-Lecrux A.

Neurobiol Dis. 2017 Aug;104:97-103. doi: 10.1016/j.nbd.2017.04.020. Epub 2017 Apr 28.

PMID:
28461250
7.

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.

PLoS Med. 2017 Mar 28;14(3):e1002270. doi: 10.1371/journal.pmed.1002270. eCollection 2017 Mar.

8.

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A.

Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13.

PMID:
27956742
9.

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.

Sellal F, Wallon D, Martinez-Almoyna L, Marelli C, Dhar A, Oesterlé H, Rovelet-Lecrux A, Rousseau S, Kourkoulis CE, Rosand J, DiPucchio ZY, Frosch M, Gombert C, Audoin B, Miné M, Riant F, Frebourg T, Hannequin D, Campion D, Greenberg SM, Tournier-Lasserve E, Nicolas G.

J Alzheimers Dis. 2017;56(1):37-46. doi: 10.3233/JAD-160709. Review.

PMID:
27858710
10.

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.

Neurology. 2016 Aug 30;87(9):912-9. doi: 10.1212/WNL.0000000000003048. Epub 2016 Jul 27.

PMID:
27466472
11.

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing.

David S, Ferreira J, Quenez O, Rovelet-Lecrux A, Richard AC, Vérin M, Jurici S, Le Ber I, Boland A, Deleuze JF, Frebourg T, Mendes de Oliveira JR, Hannequin D, Campion D, Nicolas G.

Eur J Hum Genet. 2016 Nov;24(11):1630-1634. doi: 10.1038/ejhg.2016.50. Epub 2016 Jun 1.

12.

ABCA7 rare variants and Alzheimer disease risk.

Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators.

Neurology. 2016 Jun 7;86(23):2134-7. doi: 10.1212/WNL.0000000000002627. Epub 2016 Apr 1.

13.

Alzheimer disease: modeling an Aβ-centered biological network.

Campion D, Pottier C, Nicolas G, Le Guennec K, Rovelet-Lecrux A.

Mol Psychiatry. 2016 Jul;21(7):861-71. doi: 10.1038/mp.2016.38. Epub 2016 Mar 29.

PMID:
27021818
14.

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Gilbert Dussardier B, Scherer SW, Betancur C, Campion D.

Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. doi: 10.1002/ajmg.b.32416. Epub 2016 Jan 14.

15.

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators.

Mol Psychiatry. 2016 Jun;21(6):831-6. doi: 10.1038/mp.2015.121. Epub 2015 Aug 25.

PMID:
26303663
16.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D.

Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5.

17.

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D; CNR-MAJ collaborators.

Mol Psychiatry. 2015 Sep;20(9):1046-56. doi: 10.1038/mp.2015.100. Epub 2015 Jul 21.

PMID:
26194182
18.

Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.

Nicolas G, Wallon D, Goupil C, Richard AC, Pottier C, Dorval V, Sarov-Rivière M, Riant F, Hervé D, Amouyel P, Guerchet M, Ndamba-Bandzouzi B, Mbelesso P, Dartigues JF, Lambert JC, Preux PM, Frebourg T, Campion D, Hannequin D, Tournier-Lasserve E, Hébert SS, Rovelet-Lecrux A.

Eur J Hum Genet. 2016 Jan;24(1):92-8. doi: 10.1038/ejhg.2015.61. Epub 2015 Apr 1.

19.

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.

Shinohara M, Fujioka S, Murray ME, Wojtas A, Baker M, Rovelet-Lecrux A, Rademakers R, Das P, Parisi JE, Graff-Radford NR, Petersen RC, Dickson DW, Bu G.

Brain. 2014 May;137(Pt 5):1533-49. doi: 10.1093/brain/awu046. Epub 2014 Mar 12.

20.

PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy.

Nicolas G, Rovelet-Lecrux A, Pottier C, Martinaud O, Wallon D, Vernier L, Landemore G, Chapon F, Prieto-Morin C, Tournier-Lasserve E, Frébourg T, Campion D, Hannequin D.

J Mol Neurosci. 2014 Jun;53(2):171-5. doi: 10.1007/s12031-014-0265-z. Epub 2014 Mar 7.

PMID:
24604296
21.

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Nicolas G, Jacquin A, Thauvin-Robinet C, Rovelet-Lecrux A, Rouaud O, Pottier C, Aubriot-Lorton MH, Rousseau S, Wallon D, Duvillard C, Béjot Y, Frébourg T, Giroud M, Campion D, Hannequin D.

Eur J Hum Genet. 2014 Oct;22(10):1236-8. doi: 10.1038/ejhg.2014.9. Epub 2014 Feb 12.

22.

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
23.

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group.

Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24.

PMID:
24065723
24.

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D, Hannequin D.

J Alzheimers Dis. 2013;35(1):45-9. doi: 10.3233/JAD-122311.

PMID:
23380991
25.

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.

Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.

PMID:
23255827
26.

Copy number variations involving the microtubule-associated protein tau in human diseases.

Rovelet-Lecrux A, Campion D.

Biochem Soc Trans. 2012 Aug;40(4):672-6. doi: 10.1042/BST20120045. Review.

PMID:
22817714
27.

Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers.

Wallon D, Rovelet-Lecrux A, Deramecourt V, Pariente J, Auriacombe S, Le Ber I, Schraen S, Pasquier F, Campion D, Hannequin D.

J Alzheimers Dis. 2012;32(1):19-22.

PMID:
22766732
28.

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.

J Alzheimers Dis. 2012;30(4):847-56. doi: 10.3233/JAD-2012-120172.

PMID:
22475797
29.

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.

Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15. Epub 2012 Apr 3.

PMID:
22472873
30.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S, Rollin-Sillaire A, Michon A, Le Ber I, Pariente J, Puel M, Paquet C, Croisile B, Thomas-Antérion C, Vercelletto M, Lévy R, Frébourg T, Hannequin D, Campion D; Investigators of the GMAJ project.

Eur J Hum Genet. 2012 Jun;20(6):613-7. doi: 10.1038/ejhg.2011.225. Epub 2011 Dec 14.

31.

Frontotemporal dementia phenotype associated with MAPT gene duplication.

Rovelet-Lecrux A, Hannequin D, Guillin O, Legallic S, Jurici S, Wallon D, Frebourg T, Campion D.

J Alzheimers Dis. 2010;21(3):897-902. doi: 10.3233/JAD-2010-100441.

PMID:
20634582
32.

Recent insights into the molecular genetics of dementia.

Rademakers R, Rovelet-Lecrux A.

Trends Neurosci. 2009 Aug;32(8):451-61. doi: 10.1016/j.tins.2009.05.005. Epub 2009 Jul 27. Review.

33.

Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

Rovelet-Lecrux A, Lecourtois M, Thomas-Anterion C, Le Ber I, Brice A, Frebourg T, Hannequin D, Campion D.

Hum Mutat. 2009 Apr;30(4):E591-602. doi: 10.1002/humu.20979.

PMID:
19263483
34.

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.

Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, Bisceglio G, Rovelet-Lecrux A, Boeve B, Petersen RC, Dickson DW, Younkin SG, Deramecourt V, Crook J, Graff-Radford NR, Rademakers R.

Brain. 2009 Mar;132(Pt 3):583-91. doi: 10.1093/brain/awn352. Epub 2009 Jan 21.

35.

Intrafamilial diversity of phenotype associated with app duplication.

Guyant-Marechal I, Berger E, Laquerrière A, Rovelet-Lecrux A, Viennet G, Frebourg T, Rumbach L, Campion D, Hannequin D.

Neurology. 2008 Dec 2;71(23):1925-6. doi: 10.1212/01.wnl.0000339400.64213.56. No abstract available.

PMID:
19047566
36.

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk.

Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H, Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier F, Galimberti D, Scarpini E, Mann D, Lendon C, Campion D, Amouyel P, Davies P, Foskett JK, Campagne F, Marambaud P.

Cell. 2008 Jun 27;133(7):1149-61. doi: 10.1016/j.cell.2008.05.048.

37.

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease.

Rovelet-Lecrux A, Deramecourt V, Legallic S, Maurage CA, Le Ber I, Brice A, Lambert JC, Frébourg T, Hannequin D, Pasquier F, Campion D.

Neurobiol Dis. 2008 Jul;31(1):41-5. doi: 10.1016/j.nbd.2008.03.004. Epub 2008 Apr 7.

PMID:
18479928
38.

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; French research network on FTD/FTD-MND.

Brain. 2008 Mar;131(Pt 3):732-46. doi: 10.1093/brain/awn012. Epub 2008 Feb 1.

PMID:
18245784
39.

APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage.

Rovelet-Lecrux A, Frebourg T, Tuominen H, Majamaa K, Campion D, Remes AM.

J Neurol Neurosurg Psychiatry. 2007 Oct;78(10):1158-9. Epub 2007 Apr 18. No abstract available.

40.

Variations in the APP gene promoter region and risk of Alzheimer disease.

Guyant-Maréchal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Macé S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, Campion D.

Neurology. 2007 Feb 27;68(9):684-7.

PMID:
17325276
41.

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D.

Nat Genet. 2006 Jan;38(1):24-6. Epub 2005 Dec 20.

PMID:
16369530

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