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Items: 1 to 20 of 185

1.

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. 2015 Aug 25. doi: 10.1038/mp.2015.121. [Epub ahead of print]

PMID:
26303663
2.

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639.

Boulling A, Sato M, Masson E, Génin E, Chen JM, Férec C.

Gut. 2015 Aug 5. pii: gutjnl-2015-310254. doi: 10.1136/gutjnl-2015-310254. [Epub ahead of print] No abstract available.

PMID:
26246244
3.

Integration of Omics Data in Genetic Epidemiology.

Génin E, Devoto M.

Hum Hered. 2015;79(3-4):109-10. doi: 10.1159/000382041. Epub 2015 Jul 28. No abstract available.

PMID:
26201696
4.

CHCHD10 mutations are not a common cause of SMN1-negative type III-IV spinal motor atrophy.

Morel G, Rouzier C, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Augé G, Chabrol B, Pouget J, Soriani MH, Sacconi S, Paquis-Flucklinger V.

Ann Neurol. 2015 Jun 20. doi: 10.1002/ana.24464. [Epub ahead of print] No abstract available.

PMID:
26095063
5.

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 May 7. pii: awv116. [Epub ahead of print] No abstract available.

PMID:
25953779
6.

A homogenizing process of selection has maintained an "ultra-slow" acetylation NAT2 variant in humans.

Patillon B, Luisi P, Poloni ES, Boukouvala S, Darlu P, Genin E, Sabbagh A.

Hum Biol. 2014 Summer;86(3):185-214.

PMID:
25836746
7.

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Viel M, Hubert D, Burgel PR, Génin E, Honoré I, Martinez B, Gaitch N, Chapron J, Kanaan R, Dusser D, Girodon E, Bienvenu T.

Clin Respir J. 2015 Mar 12. doi: 10.1111/crj.12288. [Epub ahead of print]

PMID:
25763772
8.

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

Plutino M, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Rouzier C, Augé G, Sacconi S, Pouget J, Paquis-Flucklinger V.

J Neurol Sci. 2015 Apr 15;351(1-2):196-7. doi: 10.1016/j.jns.2015.02.025. Epub 2015 Feb 20. No abstract available.

PMID:
25732802
9.

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Sep;138(Pt 9):e377. doi: 10.1093/brain/awv015. Epub 2015 Feb 12. No abstract available.

10.

The missing heritability paradigm: a dramatic resurgence of the GIGO syndrome in genetics.

Génin E, Clerget-Darpoux F.

Hum Hered. 2015;79(1):1-4. doi: 10.1159/000370327. Epub 2015 Feb 6. No abstract available.

11.

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Aug;138(Pt 8):e373. doi: 10.1093/brain/awu385. Epub 2015 Jan 8. No abstract available.

PMID:
25576309
12.

Improved upper limits on the stochastic gravitational-wave background from 2009-2010 LIGO and Virgo data.

Aasi J, Abbott BP, Abbott R, Abbott T, Abernathy MR, Accadia T, Acernese F, Ackley K, Adams C, Adams T, Addesso P, Adhikari RX, Affeldt C, Agathos M, Aggarwal N, Aguiar OD, Ain A, Ajith P, Alemic A, Allen B, Allocca A, Amariutei D, Andersen M, Anderson R, Anderson SB, Anderson WG, Arai K, Araya MC, Arceneaux C, Areeda J, Aston SM, Astone P, Aufmuth P, Aulbert C, Austin L, Aylott BE, Babak S, Baker PT, Ballardin G, Ballmer SW, Barayoga JC, Barbet M, Barish BC, Barker D, Barone F, Barr B, Barsotti L, Barsuglia M, Barton MA, Bartos I, Bassiri R, Basti A, Batch JC, Bauchrowitz J, Bauer TS, Behnke B, Bejger M, Beker MG, Belczynski C, Bell AS, Bell C, Bergmann G, Bersanetti D, Bertolini A, Betzwieser J, Beyersdorf PT, Bilenko IA, Billingsley G, Birch J, Biscans S, Bitossi M, Bizouard MA, Black E, Blackburn JK, Blackburn L, Blair D, Bloemen S, Blom M, Bock O, Bodiya TP, Boer M, Bogaert G, Bogan C, Bond C, Bondu F, Bonelli L, Bonnand R, Bork R, Born M, Boschi V, Bose S, Bosi L, Bradaschia C, Brady PR, Braginsky VB, Branchesi M, Brau JE, Briant T, Bridges DO, Brillet A, Brinkmann M, Brisson V, Brooks AF, Brown DA, Brown DD, Brückner F, Buchman S, Bulik T, Bulten HJ, Buonanno A, Burman R, Buskulic D, Buy C, Cadonati L, Cagnoli G, Bustillo JC, Calloni E, Camp JB, Campsie P, Cannon KC, Canuel B, Cao J, Capano CD, Carbognani F, Carbone L, Caride S, Castiglia A, Caudill S, Cavaglià M, Cavalier F, Cavalieri R, Celerier C, Cella G, Cepeda C, Cesarini E, Chakraborty R, Chalermsongsak T, Chamberlin SJ, Chao S, Charlton P, Chassande-Mottin E, Chen X, Chen Y, Chincarini A, Chiummo A, Cho HS, Chow J, Christensen N, Chu Q, Chua SS, Chung S, Ciani G, Clara F, Clark JA, Cleva F, Coccia E, Cohadon PF, Colla A, Collette C, Colombini M, Cominsky L, Constancio M, Conte A, Cook D, Corbitt TR, Cordier M, Cornish N, Corpuz A, Corsi A, Costa CA, Coughlin MW, Coughlin S, Coulon JP, Countryman S, Couvares P, Coward DM, Cowart M, Coyne DC, Coyne R, Craig K, Creighton JD, Crowder SG, Cumming A, Cunningham L, Cuoco E, Dahl K, Canton TD, Damjanic M, Danilishin SL, D'Antonio S, Danzmann K, Dattilo V, Daveloza H, Davier M, Davies GS, Daw EJ, Day R, Dayanga T, Debreczeni G, Degallaix J, Deléglise S, Del Pozzo W, Denker T, Dent T, Dereli H, Dergachev V, De Rosa R, DeRosa RT, DeSalvo R, Dhurandhar S, Díaz M, Di Fiore L, Di Lieto A, Di Palma I, Di Virgilio A, Donath A, Donovan F, Dooley KL, Doravari S, Dossa S, Douglas R, Downes TP, Drago M, Drever RW, Driggers JC, Du Z, Dwyer S, Eberle T, Edo T, Edwards M, Effler A, Eggenstein H, Ehrens P, Eichholz J, Eikenberry SS, Endrőczi G, Essick R, Etzel T, Evans M, Evans T, Factourovich M, Fafone V, Fairhurst S, Fang Q, Farinon S, Farr B, Farr WM, Favata M, Fehrmann H, Fejer MM, Feldbaum D, Feroz F, Ferrante I, Ferrini F, Fidecaro F, Finn LS, Fiori I, Fisher RP, Flaminio R, Fournier JD, Franco S, Frasca S, Frasconi F, Frede M, Frei Z, Freise A, Frey R, Fricke TT, Fritschel P, Frolov VV, Fulda P, Fyffe M, Gair J, Gammaitoni L, Gaonkar S, Garufi F, Gehrels N, Gemme G, Genin E, Gennai A, Ghosh S, Giaime JA, Giardina KD, Giazotto A, Gill C, Gleason J, Goetz E, Goetz R, Gondan L, González G, Gordon N, Gorodetsky ML, Gossan S, Gossler S, Gouaty R, Gräf C, Graff PB, Granata M, Grant A, Gras S, Gray C, Greenhalgh RJ, Gretarsson AM, Groot P, Grote H, Grover K, Grunewald S, Guidi GM, Guido C, Gushwa K, Gustafson EK, Gustafson R, Hammer D, Hammond G, Hanke M, Hanks J, Hanna C, Hanson J, Harms J, Harry GM, Harry IW, Harstad ED, Hart M, Hartman MT, Haster CJ, Haughian K, Heidmann A, Heintze M, Heitmann H, Hello P, Hemming G, Hendry M, Heng IS, Heptonstall AW, Heurs M, Hewitson M, Hild S, Hoak D, Hodge KA, Holt K, Hooper S, Hopkins P, Hosken DJ, Hough J, Howell EJ, Hu Y, Huerta E, Hughey B, Husa S, Huttner SH, Huynh M, Huynh-Dinh T, Ingram DR, Inta R, Isogai T, Ivanov A, Iyer BR, Izumi K, Jacobson M, James E, Jang H, Jaranowski P, Ji Y, Jiménez-Forteza F, Johnson WW, Jones DI, Jones R, Jonker RJ, Ju L, K H, Kalmus P, Kalogera V, Kandhasamy S, Kang G, Kanner JB, Karlen J, Kasprzack M, Katsavounidis E, Katzman W, Kaufer H, Kawabe K, Kawazoe F, Kéfélian F, Keiser GM, Keitel D, Kelley DB, Kells W, Khalaidovski A, Khalili FY, Khazanov EA, Kim C, Kim K, Kim N, Kim NG, Kim YM, King EJ, King PJ, Kinzel DL, Kissel JS, Klimenko S, Kline J, Koehlenbeck S, Kokeyama K, Kondrashov V, Koranda S, Korth WZ, Kowalska I, Kozak DB, Kremin A, Kringel V, Królak A, Kuehn G, Kumar A, Kumar P, Kumar R, Kuo L, Kutynia A, Kwee P, Landry M, Lantz B, Larson S, Lasky PD, Lawrie C, Lazzarini A, Lazzaro C, Leaci P, Leavey S, Lebigot EO, Lee CH, Lee HK, Lee HM, Lee J, Leonardi M, Leong JR, Le Roux A, Leroy N, Letendre N, Levin Y, Levine B, Lewis J, Li TG, Libbrecht K, Libson A, Lin AC, Littenberg TB, Litvine V, Lockerbie NA, Lockett V, Lodhia D, Loew K, Logue J, Lombardi AL, Lorenzini M, Loriette V, Lormand M, Losurdo G, Lough J, Lubinski MJ, Lück H, Luijten E, Lundgren AP, Lynch R, Ma Y, Macarthur J, Macdonald EP, MacDonald T, Machenschalk B, MacInnis M, Macleod DM, Magana-Sandoval F, Mageswaran M, Maglione C, Mailand K, Majorana E, Maksimovic I, Malvezzi V, Man N, Manca GM, Mandel I, Mandic V, Mangano V, Mangini N, Mantovani M, Marchesoni F, Marion F, Márka S, Márka Z, Markosyan A, Maros E, Marque J, Martelli F, Martin IW, Martin RM, Martinelli L, Martynov D, Marx JN, Mason K, Masserot A, Massinger TJ, Matichard F, Matone L, Matzner RA, Mavalvala N, Mazumder N, Mazzolo G, McCarthy R, McClelland DE, McGuire SC, McIntyre G, McIver J, McLin K, Meacher D, Meadors GD, Mehmet M, Meidam J, Meinders M, Melatos A, Mendell G, Mercer RA, Meshkov S, Messenger C, Meyers P, Miao H, Michel C, Mikhailov EE, Milano L, Milde S, Miller J, Minenkov Y, Mingarelli CM, Mishra C, Mitra S, Mitrofanov VP, Mitselmakher G, Mittleman R, Moe B, Moesta P, Mohan M, Mohapatra SR, Moraru D, Moreno G, Morgado N, Morriss SR, Mossavi K, Mours B, Mow-Lowry CM, Mueller CL, Mueller G, Mukherjee S, Mullavey A, Munch J, Murphy D, Murray PG, Mytidis A, Nagy MF, Kumar DN, Nardecchia I, Naticchioni L, Nayak RK, Necula V, Nelemans G, Neri I, Neri M, Newton G, Nguyen T, Nitz A, Nocera F, Nolting D, Normandin ME, Nuttall LK, Ochsner E, O'Dell J, Oelker E, Oh JJ, Oh SH, Ohme F, Oppermann P, O'Reilly B, O'Shaughnessy R, Osthelder C, Ottaway DJ, Ottens RS, Overmier H, Owen BJ, Padilla C, Pai A, Palashov O, Palomba C, Pan H, Pan Y, Pankow C, Paoletti F, Paoletti R, Paris H, Pasqualetti A, Passaquieti R, Passuello D, Pedraza M, Penn S, Perreca A, Phelps M, Pichot M, Pickenpack M, Piergiovanni F, Pierro V, Pinard L, Pinto IM, Pitkin M, Poeld J, Poggiani R, Poteomkin A, Powell J, Prasad J, Premachandra S, Prestegard T, Price LR, Prijatelj M, Privitera S, Prodi GA, Prokhorov L, Puncken O, Punturo M, Puppo P, Qin J, Quetschke V, Quintero E, Quiroga G, Quitzow-James R, Raab FJ, Rabeling DS, Rácz I, Radkins H, Raffai P, Raja S, Rajalakshmi G, Rakhmanov M, Ramet C, Ramirez K, Rapagnani P, Raymond V, Re V, Read J, Reed CM, Regimbau T, Reid S, Reitze DH, Rhoades E, Ricci F, Riles K, Robertson NA, Robinet F, Rocchi A, Rodruck M, Rolland L, Rollins JG, Romano JD, Romano R, Romanov G, Romie JH, Rosińska D, Rowan S, Rüdiger A, Ruggi P, Ryan K, Salemi F, Sammut L, Sandberg V, Sanders JR, Sannibale V, Santiago-Prieto I, Saracco E, Sassolas B, Sathyaprakash BS, Saulson PR, Savage R, Scheuer J, Schilling R, Schnabel R, Schofield RM, Schreiber E, Schuette D, Schutz BF, Scott J, Scott SM, Sellers D, Sengupta AS, Sentenac D, Sequino V, Sergeev A, Shaddock D, Shah S, Shahriar MS, Shaltev M, Shapiro B, Shawhan P, Shoemaker DH, Sidery TL, Siellez K, Siemens X, Sigg D, Simakov D, Singer A, Singer L, Singh R, Sintes AM, Slagmolen BJ, Slutsky J, Smith JR, Smith M, Smith RJ, Smith-Lefebvre ND, Son EJ, Sorazu B, Souradeep T, Sperandio L, Staley A, Stebbins J, Steinlechner J, Steinlechner S, Stephens BC, Steplewski S, Stevenson S, Stone R, Stops D, Strain KA, Straniero N, Strigin S, Sturani R, Stuver AL, Summerscales TZ, Susmithan S, Sutton PJ, Swinkels B, Tacca M, Talukder D, Tanner DB, Tarabrin SP, Taylor R, Ter Braack AP, Thirugnanasambandam MP, Thomas M, Thomas P, Thorne KA, Thorne KS, Thrane E, Tiwari V, Tokmakov KV, Tomlinson C, Toncelli A, Tonelli M, Torre O, Torres CV, Torrie CI, Travasso F, Traylor G, Tse M, Ugolini D, Unnikrishnan CS, Urban AL, Urbanek K, Vahlbruch H, Vajente G, Valdes G, Vallisneri M, van den Brand JF, Van Den Broeck C, van der Putten S, van der Sluys MV, van Heijningen J, van Veggel AA, Vass S, Vasúth M, Vaulin R, Vecchio A, Vedovato G, Veitch J, Veitch PJ, Venkateswara K, Verkindt D, Verma SS, Vetrano F, Viceré A, Vincent-Finley R, Vinet JY, Vitale S, Vo T, Vocca H, Vorvick C, Vousden WD, Vyachanin SP, Wade A, Wade L, Wade M, Walker M, Wallace L, Wang M, Wang X, Ward RL, Was M, Weaver B, Wei LW, Weinert M, Weinstein AJ, Weiss R, Welborn T, Wen L, Wessels P, West M, Westphal T, Wette K, Whelan JT, White DJ, Whiting BF, Wiesner K, Wilkinson C, Williams K, Williams L, Williams R, Williams T, Williamson AR, Willis JL, Willke B, Wimmer M, Winkler W, Wipf CC, Wiseman AG, Wittel H, Woan G, Worden J, Yablon J, Yakushin I, Yamamoto H, Yancey CC, Yang H, Yang Z, Yoshida S, Yvert M, Zadrożny A, Zanolin M, Zendri JP, Zhang F, Zhang L, Zhao C, Zhu XJ, Zucker ME, Zuraw S, Zweizig J; (LIGO and Virgo Collaboration).

Phys Rev Lett. 2014 Dec 5;113(23):231101. Epub 2014 Dec 2.

PMID:
25526109
13.

Cooperative dyads for two-photon uncaging.

Cueto Díaz EJ, Picard S, Chevasson V, Daniel J, Hugues V, Mongin O, Genin E, Blanchard-Desce M.

Org Lett. 2015 Jan 2;17(1):102-5. doi: 10.1021/ol5033046. Epub 2014 Dec 19.

PMID:
25522917
14.

Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).

Marchi N, Pissard S, Cliquennois M, Vasseur C, Le Metayer N, Mereau C, Jouet JP, Georgel AF, Genin E, Rose C.

Eur J Hum Genet. 2015 Sep;23(9):1158-64. doi: 10.1038/ejhg.2014.263. Epub 2014 Dec 3.

15.

Development of an analytical methodology using Fourier transform mass spectrometry to discover new structural analogs of wine natural sweeteners.

Marchal A, Génin E, Waffo-Téguo P, Bibès A, Da Costa G, Mérillon JM, Dubourdieu D.

Anal Chim Acta. 2015 Jan 1;853:425-34. doi: 10.1016/j.aca.2014.10.039. Epub 2014 Nov 1.

PMID:
25467487
16.

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

de Tayrac M, Roth MP, Jouanolle AM, Coppin H, le Gac G, Piperno A, Férec C, Pelucchi S, Scotet V, Bardou-Jacquet E, Ropert M, Bouvet R, Génin E, Mosser J, Deugnier Y.

J Hepatol. 2015 Mar;62(3):664-72. doi: 10.1016/j.jhep.2014.10.017. Epub 2014 Oct 18.

PMID:
25457201
17.

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2014 Dec;137(Pt 12):e314. doi: 10.1093/brain/awu300. Epub 2014 Oct 27. No abstract available.

PMID:
25348633
18.

Noncovalent fluorescent probes of human immuno- and constitutive proteasomes.

Desvergne A, Cheng Y, Grosay-Gaudrel S, Maréchal X, Reboud-Ravaux M, Genin E, Vidal J.

J Med Chem. 2014 Nov 13;57(21):9211-7. doi: 10.1021/jm5011429. Epub 2014 Nov 4.

PMID:
25333324
19.

Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study.

Puéchal X, Génin E, Bienvenu T, Le Jeunne C, Dusser DJ.

PLoS One. 2014 Oct 13;9(10):e110066. doi: 10.1371/journal.pone.0110066. eCollection 2014.

20.

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2014 Dec;137(Pt 12):e312. doi: 10.1093/brain/awu267. Epub 2014 Sep 26. No abstract available.

PMID:
25261971
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