Anne Rovelet-lecrux - Publications

University of Rouen 

32 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Miguel L, Rovelet-Lecrux A, Feyeux M, Frebourg T, Nassoy P, Campion D, Lecourtois M. Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons. Stem Cell Research. 40: 101541. PMID 31522011 DOI: 10.1016/j.scr.2019.101541  0.72
2019 Lacour M, Quenez O, Rovelet-Lecrux A, Salomon B, Rousseau S, Richard AC, Quillard-Muraine M, Pasquier F, Rollin-Sillaire A, Martinaud O, Zarea A, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, et al. Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years. Journal of Alzheimer's Disease : Jad. PMID 31381512 DOI: 10.3233/JAD-190193  0.72
2019 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, et al. A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations. Clinical Chemistry. PMID 31292136 DOI: 10.1373/clinchem.2019.304246  0.72
2019 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, ... ... Rovelet-Lecrux A, et al. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype. Brain : a Journal of Neurology. PMID 31009047 DOI: 10.1093/brain/awz095  0.72
2019 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, ... ... Rovelet-Lecrux A, et al. Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease. Journal of Alzheimer's Disease : Jad. PMID 30909216 DOI: 10.3233/JAD-180940  0.72
2017 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. Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds. Neurobiology of Disease. PMID 28461250 DOI: 10.1016/j.nbd.2017.04.020  0.72
2017 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, et al. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. Plos Medicine. 14: e1002270. PMID 28350801 DOI: 10.1371/journal.pmed.1002270  0.72
2016 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, Mine M, et al. APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. Journal of Alzheimer's Disease : Jad. PMID 27858710 DOI: 10.3233/JAD-160709  0.72
2016 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, et al. Seizures in dominantly inherited Alzheimer disease. Neurology. PMID 27466472 DOI: 10.1212/WNL.0000000000003048  0.72
2016 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. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing. European Journal of Human Genetics : Ejhg. PMID 27245298 DOI: 10.1038/ejhg.2016.50  0.72
2016 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, et al. ABCA7 rare variants and Alzheimer disease risk. Neurology. PMID 27037229 DOI: 10.1212/WNL.0000000000002627  0.72
2016 Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Dussardier BG, Scherer SW, Betancur C, Campion D. The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 26978485 DOI: 10.1002/ajmg.b.32416  0.72
2015 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, et al. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. European Journal of Human Genetics : Ejhg. PMID 26242991 DOI: 10.1038/ejhg.2015.173  0.72
2015 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, ... ... Rovelet-Lecrux A, et al. Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy. European Journal of Human Genetics : Ejhg. PMID 25828868 DOI: 10.1038/ejhg.2015.61  0.72
2014 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. Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. Brain : a Journal of Neurology. 137: 1533-49. PMID 24625695 DOI: 10.1093/brain/awu046  0.72
2014 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. PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. Journal of Molecular Neuroscience : Mn. 53: 171-5. PMID 24604296 DOI: 10.1007/s12031-014-0265-z  0.72
2014 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. A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. European Journal of Human Genetics : Ejhg. 22: 1236-8. PMID 24518837 DOI: 10.1038/ejhg.2014.9  0.72
2014 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, et al. Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration. Neurogenetics. 15: 95-100. PMID 24469240 DOI: 10.1007/s10048-014-0389-x  0.72
2013 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, ... ... Rovelet-Lecrux A, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain : a Journal of Neurology. 136: 3395-407. PMID 24065723 DOI: 10.1093/brain/awt255  0.72
2013 Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D, Hannequin D. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 35: 45-9. PMID 23380991 DOI: 10.3233/JAD-122311  0.72
2013 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, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 80: 181-7. PMID 23255827 DOI: 10.1212/WNL.0b013e31827ccf34  0.72
2012 Rovelet-Lecrux A, Campion D. Copy number variations involving the microtubule-associated protein tau in human diseases. Biochemical Society Transactions. 40: 672-6. PMID 22817714 DOI: 10.1042/BST20120045  0.72
2012 Wallon D, Rovelet-Lecrux A, Deramecourt V, Pariente J, Auriacombe S, Le Ber I, Schraen S, Pasquier F, Campion D, Hannequin D. Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. Journal of Alzheimer's Disease : Jad. 32: 19-22. PMID 22766732 DOI: 10.3233/JAD-2012-120877  0.72
2012 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, et al. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. Journal of Alzheimer's Disease : Jad. 30: 847-56. PMID 22475797 DOI: 10.3233/JAD-2012-120172  0.72
2012 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, et al. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. European Journal of Human Genetics : Ejhg. 20: 613-7. PMID 22166940 DOI: 10.1038/ejhg.2011.225  0.72
2010 Rovelet-Lecrux A, Hannequin D, Guillin O, Legallic S, Jurici S, Wallon D, Frebourg T, Campion D. Frontotemporal dementia phenotype associated with MAPT gene duplication. Journal of Alzheimer's Disease : Jad. 21: 897-902. PMID 20634582 DOI: 10.3233/JAD-2010-100441  0.72
2009 Rovelet-Lecrux A, Lecourtois M, Thomas-Anterion C, Le Ber I, Brice A, Frebourg T, Hannequin D, Campion D. Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Human Mutation. 30: E591-602. PMID 19263483 DOI: 10.1002/humu.20979  0.72
2009 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, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain : a Journal of Neurology. 132: 583-91. PMID 19158106 DOI: 10.1093/brain/awn352  0.72
2008 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, et al. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell. 133: 1149-61. PMID 18585350 DOI: 10.1016/j.cell.2008.05.048  0.72
2008 Rovelet-Lecrux A, Deramecourt V, Legallic S, Maurage CA, Le Ber I, Brice A, Lambert JC, Frébourg T, Hannequin D, Pasquier F, Campion D. Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiology of Disease. 31: 41-5. PMID 18479928 DOI: 10.1016/j.nbd.2008.03.004  0.72
2008 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, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain : a Journal of Neurology. 131: 732-46. PMID 18245784 DOI: 10.1093/brain/awn012  0.72
2006 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. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genetics. 38: 24-6. PMID 16369530 DOI: 10.1038/ng1718  0.72
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