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E

Eric Olinger

Cliniques Universitaires Saint Luc
H指数:27
被引数:2,448

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications
IF15.7
2025-11-260
OA
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

由单等位基因致病性变异引起的IFT140非典型常染色体显性多囊肾病临床谱与预后

AMERICAN JOURNAL OF KIDNEY DISEASES
IF8.2
2024-12-010
PRE
Zagorec, N; Calamel, A; Delaporte, M; Olinger, E; Orr, S; Sayer, JA; Pillay, VG; Denommé-Pichon, AS; Mau-Them, FT; Nambot, S; Faivre, L; Ars, E; Torra, R; Ong, ACM; Devuyst, O; Perico, N; Després, AM; Lemoine, H; de Fallois, J; Brousse, R; Hummel, A; Knebelmann, B; Maisonneuve, N; Halbritter, J; Le Meur, Y; Audrézet, MP; Cornec-Le Gall, E
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline
HYPERTENSION
IF8.2
2024-09-010
PRE
Wopperer, Florian J.; Olinger, Eric; Wiesener, Antje; Broeker, Katharina A. E.; Knaup, Karl X.; Schaefer, Jan T.; Galiano, Matthias; Schneider, Karen; Schiffer, Mario; Buettner-Herold, Maike; Reis, Andre; Schmieder, Roland; Pasutto, Francesca; Hilgers, Karl F.; Poglitsch, Marko; Ziegler, Christine; Shoemaker, Robin; Sayer, John A.; Wiesener, Michael S.
Uromodulin processing in DNAJB11-kidney disease

DNAJB11-kidney疾病中的尿调节素加工

KIDNEY INTERNATIONAL
IF12.6
2024-02-012
OA
Mariniello, Marta; Schiano, Guglielmo; Yoshifuji, Ayumi; Gillion, Valentine; Sayer, John Andrew; Jouret, Francois; Le Meur, Yannick; Cornec-Le Gall, Emilie; Olinger, Eric Gregory; Devuyst, Olivier
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
KIDNEY INTERNATIONAL
IF12.6
2023-11-019
PRE
Claus, Laura R.; Chen, Chuan; Stallworth, Jennifer; Turner, Joshua L.; Slaats, Gisela G.; Hawks, Alexandra L.; Mabillard, Holly; Senum, Sarah R.; Srikanth, Sujata; Flanagan-Steet, Heather; Louie, Raymond J.; Silver, Josh; Lerner-Ellis, Jordan; Morel, Chantal; Mighton, Chloe; Sleutels, Frank; van Slegtenhorst, Marjon; van Ham, Tjakko; Brooks, Alice S.; Dorresteijn, Eiske M.; Barakat, Tahsin Stefan; Dahan, Karin; Demoulin, Nathalie; Goffin, Eric Jean; Olinger, Eric; Larsen, Martin; Hertz, Jens Michael; Lilien, Marc R.; Obeidova, Lena; Seeman, Tomas; Stone, Hillarey K.; Kerecuk, Larissa; Gurgu, Mihai; Yengej, Fjodor A. Yousef; Ammerlaan, Carola M. E.; Rookmaaker, Maarten B.; Hanna, Christian; Rogers, R. Curtis; Duran, Karen; Peters, Edith; Sayer, John A.; van Haaften, Gijs; Harris, Peter C.; Ling, Kun; Mason, Jennifer M.; van Eerde, Albertien M.; Steet, Richard
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

一个中等效应的大小变异的udod赋予慢性肾脏疾病的风险

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2022-08-1019
OAAI
Olinger, Eric; Schaeffer, Celine; Kidd, Kendrah; Elhassan, Elhussein A. E.; Cheng, Yurong; Dufour, Ines; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G.; Kistler, Andreas D.; Wilson, Ian J.; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J., Sr.; Koettgen, Anna; Conlon, Peter J.; Wiesener, Michael; Sayer, John A.; Rampoldi, Luca; Devuyst, Olivier
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-08-0135
OAAI
Lemoine, Hugo; Raud, Loann; Foulquier, Francois; Sayer, John A.; Lambert, Baptiste; Olinger, Eric; Lefevre, Siriane; Knebelmann, Bertrand; Harris, Peter C.; Trouve, Pascal; Despres, Aurore; Duneau, Gabrielle; Matignon, Marie; Poyet, Anais; Jourde-Chiche, Noemie; Guerrot, Dominique; Lemoine, Sandrine; Seret, Guillaume; Barroso-Gil, Miguel; Bingham, Coralie; Gilbert, Rodney; Le Meur, Yannick; Audrezet, Marie-Pierre; Cornec-Le Gall, Emilie
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-05-0128
OAAI
Devane, John; Ott, Elisabeth; Olinger, Eric G.; Epting, Daniel; Decker, Eva; Friedrich, Anja; Bachmann, Nadine; Renschler, Gina; Eisenberger, Tobias; Briem-Richter, Andrea; Grabhorn, Enke Freya; Powell, Laura; Wilson, Ian J.; Rice, Sarah J.; Miles, Colin G.; Wood, Katrina; Trivedi, Palak; Hirschfield, Gideon; Pietrobattista, Andrea; Wohler, Elizabeth; Mezina, Anya; Sobreira, Nara; Agolini, Emanuele; Maggiore, Giuseppe; Dahmer-Heath, Mareike; Yilmaz, Ali; Boerries, Melanie; Metzger, Patrick; Schell, Christoph; Gruenewald, Inga; Konrad, Martin; Koenig, Jens; Schlevogt, Bernhard; Sayer, John A.; Bergmann, Carsten
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

单等位基因IFT140致病变异是常染色体显性多囊肾谱系表型的重要原因

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-01-0180
OAAI
Senum, Sarah R.; Li, Ying (Sabrina) M.; Benson, Katherine A.; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D.; V. Gregory, Adriana; Neatu, Ruxandra; Kline, Timothy L.; Audrezet, Marie -Pierre; Outeda, Patricia; Nau, Cherie B.; Meijer, Esther; Ali, Hamad; Steinman, Theodore I.; Mrug, Michal; Phelan, Paul J.; Watnick, Terry J.; Peters, Dorien J. M.; Ong, Albert C. M.; Conlon, Peter J.; Perrone, Ronald D.; Cornec-Le Gall, Emilie; Hogan, Marie C.; Torres, Vicente E.; Saver, John A.; Harris, Peter C.

研究方向

暂未获取到该数据
O
Olivier Devuyst
H 指数:95论文数:1,222被引数:3.5万
J
John A. Sayer
H 指数:56论文数:1,196被引数:1.1万
L
Luca Rampoldi
H 指数:41论文数:110被引数:6,785
I
Ian Wilson
H 指数:41论文数:170被引数:6,614
C
Céline Schaeffer
H 指数:25论文数:57被引数:2,956
G
Guglielmo Schiano
H 指数:9论文数:33被引数:319
A
Anthony J. Bleyer
H 指数:57论文数:607被引数:1.3万
É
Émilie Cornec-Le Gall
H 指数:33论文数:155被引数:5,492
M
Miguel Barroso‐Gil
H 指数:8论文数:23被引数:365
S
Stanislav Kmoch
H 指数:48论文数:284被引数:7,491