Publications en rapport avec les thèmes de recherche de l’EA3808

Boublay N, Fédérico D, Pesce A, Verny M, Blanc F, Paccalin M, Desmidt T, Grosmaître P, Moreaud O, Relland S, Bravant E, Bouet R, Krolak-Salmon P. Study protocol on Alzheimer’s disease and related disorders: focus on clinical and imaging predictive markers in co-existing lesions. BMC Geriatr. 2018 Nov 14;18(1):280. doi: 10.1186/s12877-018-0949-2. PubMed PMID: 30428832; PubMed Central PMCID: PMC6236893.

Brajadenta GS, Permata Sari AI, Nauphar D, Pratamawati TM, Thoreau V. Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in Indonesian patient with Apert syndrome : a case report. J Med Case Rep. 2019; 13(1):244. doi: 10.1186/s13256-019-2173-x.                                                                                                         

Brajadenta GS, Bilan F, Gilbert-Dussardier B, Kitzis A, Thoreau V. A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients. Eur J Hum Genet. 2019 Jul 9. doi: 10.1038/s41431-019-0465-7. [IF: 3.650]

Brajadenta GS, Utari A, Patri S, Bilan F, Faradz SMH, Kitzis A, Thoreau V. Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia. Ann Lab Med. 2019, 39(5):503-506. doi: 10.3343/alm.2019.39.5.503. [IF: 1.916]

Caillaud M, Guillard J, Richard D, Milin S, Chassaing D, Paccalin M, Page G*, Rioux Bilan A* (*Co-last authors). Trans ε‑viniferin decreases amyloid deposits and inflammation in a mouse transgenic Alzheimer model. PLoS ONE, 2019, 14(2):e0212663. doi: 10.1371/journal.pone.0212663. [IF: 2.766]

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. [IF: 8.855]

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. PubMed PMID: 30827496; PubMed Central PMCID: PMC6407527.

Loera-Valencia R, Cedazo-Minguez A,  Kenigsberg PA, Page G, Duarte A, Giusti P,  Zusso M, Robert P, Frisoni G, Cattaneo A, Zille M, Boltze J, Cartier N, Buee L, Johansson G, Winblad B. Current and emerging avenues for Alzheimer’s disease drug targets. Journal of Internal Medicine, in press [IF: 6.754]

Maleysson V, Page G, Janet T, Klein RL, Haida O, Maurin A, Richard S, Champeroux P, Fauconneau B. Relevance of electroencephalogram assessment in amyloid and tau pathology in rat. Behavioural Brain Research, 2019, 359:127-134. doi: 10.1016/j.bbr.2018.10.026. [IF: 3.173]

Masson J, Demily C, Chatron N, Labalme A, Rollat-Farnier PA, Schluth-Bolard C, Gilbert-Dussardier B, Giuliano F, Touraine R, Tordjman S, Verloes A, Testa G,  Sanlaville D, Edery P, Lesca G, Rossi M. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder. Orphanet J Rare Dis. 2019  May 31;14(1):121. doi: 10.1186/s13023-019-1094-5. PubMed PMID: 31151468; PubMed Central PMCID: PMC6545013.

Autres publications

Forestier E, Roubaud-Baudron C, Fraisse T, Patry C, Gavazzi G, Hoen B,Carauz-Paz P, Moheb-Khosravi B, Delahaye F, Sost G, Paccalin M, Nazeyrollas P, Strady C, Alla F, Selton-Suty C; AEPEI and the GInGer Elderl-IE study group. Comprehensive geriatric assessment in older patients suffering from infective endocarditis. A prospective multicentric cohort study. Clin Microbiol Infect. 2019 May 2. pii: S1198-743X(19)30198-3. doi: 10.1016/j.cmi.2019.04.021. [Epub ahead of print] PubMed PMID: 31055167.

Gamet A, Degand B, Le Gal F, Bidegain N, Delaubier A, Gilbert-Dussardier B, Christiaens L, Garcia R. Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. Ann Noninvasive Electrocardiol. 2019 Jan;24(1):e12587. doi: 10.1111/anec.12587. Epub 2018 Aug 12. PubMed PMID: 30101452.

Kassai B, Bouyé P, Gilbert-Dussardier B, Godart F, Thambo JB, Rossi M, Cochat P, Chirossel P, Luong S, Serusclat A, Canterino I, Mercier C, Rabilloud M, Pivot C, Pirot F, Ginhoux T, Coopman S, Grenet G, Gueyffier F, Di-Fillippo S, Bertholet-Thomas A. Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial. BMC Pediatr. 2019 May 28;19(1):170. doi: 10.1186/s12887-019-1544-1. PubMed PMID: 31138170; PubMed Central PMCID: PMC6537216.

Lauda-Maillen M, Liuu E, Catroux M, Caupenne A, Priner M, Cazenave-Roblot F, Burucoa C, Ingrand P, Paccalin M. Treatment compliance with European guidelines and prognosis of Clostridium difficile infection according to age. Med Mal Infect. 2019 May;49(3):173-179. doi: 10.1016/j.medmal.2018.08.001. Epub 2018 Sep  25. PubMed PMID: 30266433.

Liuu E, Guyot N, Valero S, Jamet A, Ouazzani HE, Bouchaert P, Tourani JM, Migeot V, Paccalin M. Prevalence of cancer and management in elderly nursing home residents. A descriptive study in 45 French nursing homes. Eur J Cancer Care (Engl). 2019 Mar;28(2):e12957. doi: 10.1111/ecc.12957. Epub 2018 Oct 29. PubMed PMID: 30370946.

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J. Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500. PubMed PMID: 30614526.

Ouach A, Vercouillie J, Bertrand E, Rodrigues N, Pin F, Serriere S, Boiaryna L, Chartier A, Percina N, Tangpong P,  Gulhan Z, Mothes C, Deloye JB, Guilloteau D, Page G, Suzenet F, Buron F, Chalon S, Routier S. Bis(het)aryl-1,2,3-triazole quinuclidines asa7 nicotinic acetylcholinereceptor ligands: Synthesis, structure affinity relationships, agonismactivity, [18F]-radiolabeling and PET study in rats. European Journal of Medicinal Chemistry, 2019, 17: 449-469 [IF: 4.816]

Samso S, Loko MA, Jamet A, Bouthier-Quintard F, Paccalin M, Liuu E. Prognosis of geriatric patients with severe kidney disease. Geriatr Psychol Neuropsychiatr  Vieil. 2018 Dec 1;16(4):376-382. doi: 10.1684/pnv.2018.0756. PubMed PMID: 30451696.

Tachon G, Masliantsev K, Rivet P, Petropoulos C, Godet J, Milin S, Wager M, Guichet PO, Karayan-Tapon L. Prognostic significance of MEOX2 in gliomas. Mod Pathol. 2019 Jun;32(6):774-786. doi: 10.1038/s41379-018-0192-6. Epub 2019 Jan 18. PubMed PMID: 30659268.

Valero S, Simet G, Fauchier T, Jamet A, Bouchaert P, Migeot V, Tourani JM, Paccalin M, Liuu E. [Non-programmed hospitalization of elderly patients with cancer: Which care pathway?]. Bull Cancer. 2019 Apr;106(4):293-303. doi: 10.1016/j.bulcan.2018.12.012. Epub 2019 Mar 1. French. PubMed PMID: 30827485.