Gael Nicolas

Gael Nicolas

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Gael Nicolas

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SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.

Acta Neuropathol 2019 Aug 25;138(2):173-186. Epub 2019 Mar 25.

Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, 76000, Rouen, France.

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http://link.springer.com/10.1007/s00401-019-01991-4
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http://dx.doi.org/10.1007/s00401-019-01991-4DOI Listing
August 2019

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Am J Med Genet A 2019 Aug 7. Epub 2019 Aug 7.

Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.61317DOI Listing
August 2019

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 Aug 15. Epub 2019 Aug 15.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
August 2019

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy.

Brain 2019 Jul 22. Epub 2019 Jul 22.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1093/brain/awz227DOI Listing
July 2019

Deciphering the Chemical Lexicon of Host-Gut Microbiota Interactions.

Trends Pharmacol Sci 2019 Jun 9;40(6):430-445. Epub 2019 May 9.

Department of Microbiology and Immunology, Cornell University, Ithaca, NY 14853, USA; Center for Infection and Pathobiology, Cornell University, Ithaca, NY 14853, USA; Cornell Institute of Host-Microbe Interactions and Disease, Cornell University, Ithaca, NY 14853, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tips.2019.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681900PMC
June 2019

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

J Alzheimers Dis 2018 ;62(2):821-831

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.3233/JAD-170981DOI Listing
February 2019

The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathol 2019 Feb 26;137(2):183-207. Epub 2018 Nov 26.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00401-018-1939-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513904PMC
February 2019

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.

Am J Hum Genet 2019 Feb 31;104(2):341-347. Epub 2019 Jan 31.

Centre de Recherches sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale U1149, 75018 Paris, France; Université Paris Diderot, 75018 Paris, France; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, 178 rue des Renouillers, 92701 Colombes, France; Laboratory of Excellence GR-Ex, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369449PMC
February 2019

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

Mol Genet Metab 2019 Jan 23. Epub 2019 Jan 23.

INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France, 16 rue Henri Huchard, 75018 Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, HUPNVS, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.015DOI Listing
January 2019

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

J Alzheimers Dis 2019 ;68(3):1243-1255

Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.3233/JAD-180940DOI Listing
January 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimers Dement 2018 Dec 13;14(12):1632-1639. Epub 2018 Aug 13.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jalz.2018.06.3056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544509PMC
December 2018

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

Fatal Aβ cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years.

Acta Neuropathol 2018 05 5;135(5):801-803. Epub 2018 Mar 5.

Département de Neuropathologie Raymond Escourolle, GH Pitié-Salpêtrière, Faculté de médecine Sorbonne Université, Paris, France.

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http://dx.doi.org/10.1007/s00401-018-1828-9DOI Listing
May 2018

[State of play of knowledge and of technologies in the field of genomics].

Authors:
Gaël Nicolas

Med Sci (Paris) 2018 May 18;34 Hors série n°1:37-39. Epub 2018 Jun 18.

Laboratoire de génétique moléculaire, Service de génétique, Faculté de médecine et de pharmacie de Rouen, 22, boulevard Gambetta, 76183 Rouen Cedex, France.

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http://dx.doi.org/10.1051/medsci/201834s120DOI Listing
May 2018

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):68-74. Epub 2017 Nov 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.b.32605
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32605DOI Listing
January 2018

Sporadic Cerebral Amyloid Angiopathy With Cortical Occipital Calcifications in the Elderly.

Alzheimer Dis Assoc Disord 2018 Jan-Mar;32(1):83-84

Department of Neurology and CNR-MAJ, Rouen University Hospital, Rouen.

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http://dx.doi.org/10.1097/WAD.0000000000000218DOI Listing
October 2017

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

Neurobiol Dis 2017 Aug 28;104:97-103. Epub 2017 Apr 28.

Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.04.020DOI Listing
August 2017

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.

JAMA Neurol 2017 08;74(8):1000-1008

Department of Neurology, Montpellier University Hospital, Montpellier, France.

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http://dx.doi.org/10.1001/jamaneurol.2017.1062DOI Listing
August 2017

Brain calcifications and variants.

Neurol Genet 2017 Aug 26;3(4):e166. Epub 2017 Jul 26.

Department of Genetics and CNR-MAJ (G.N., A.-C.R., O.Q.), Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, France; Department of Human Genetics (G.N.), Genome Research, Radboud UMC, Nijmegen, The Netherlands; Department of Neuroscience (M.S.-C., D.W.D., R.R.), Mayo Clinic, Jacksonville, FL; Department of Psychiatry (E.M.R., A.R.L., A.L., G.C., D.H.G.), Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles; Keizo Asami Laboratory (R.R.L., J.F., D.M., J.R.M.d.O), Federal University of Pernambuco, Recife, Brazil; Fundación Pública Galega de Medicina Xenómica (M.J.S.), Clinical University Hospital of Santiago de Compostela-SERGAS, Spain; Centre National de Recherche en Génomique Humaine (CNRGH) (J.-F.D., A.B.), Institut de Biologie François Jacob, CEA, Evry; Department of Neurology (P.K.), Amiens University Hospital; Department of Neurology (P.F.), Tenon Hospital, AP-HP, Paris, France; Medical Genetics MRI Unit (R.S., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (R.S., E.L.-L.); and Neuropsychiatry Department (J.R.M.d.O), Universidade Federal de Pernambuco, Recife, Brazil.

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August 2017

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

Hum Hered 2016 22;81(3):129-141. Epub 2016 Dec 22.

CNR-MAJ, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1159/000452256DOI Listing
May 2017

A family of genus-specific RNAs in tandem with DNA-binding proteins control expression of the badA major virulence factor gene in Bartonella henselae.

Microbiologyopen 2017 04 28;6(2). Epub 2016 Oct 28.

Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.

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http://dx.doi.org/10.1002/mbo3.420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387305PMC
April 2017

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies.

Neurol Genet 2017 Apr 8;3(2):e134. Epub 2017 Feb 8.

Normandie Univ (G.N., F.L., A.L., D.H.), UNIROUEN, Inserm U1245; Department of Genetics (G.N., D.H.), Department of Pathology (F.M., A.L.), Department of Neurology (D.H.), and CNR-MAJ (G.N., D.H.), Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, Rouen, France; and Keizo Asami Laboratory (LIKA) (J.R.M.d.O.), and Neuropsychiatry Department (J.R.M.d.O.), Universidade Federal de Pernambuco, Recife, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299632PMC
April 2017

XPR1 mutations are a rare cause of primary familial brain calcification.

J Neurol 2016 Aug 26;263(8):1559-64. Epub 2016 May 26.

Faculté de Médecine, Inserm U1079, University of Rouen, IRIB, Normandy University, 22 Boulevard Gambetta, 76183, Rouen, France.

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http://link.springer.com/10.1007/s00415-016-8166-4
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August 2016

Seizures in dominantly inherited Alzheimer disease.

Neurology 2016 Aug 27;87(9):912-9. Epub 2016 Jul 27.

From the Departments of Neurology (A.Z., A.B., O.M., D.H., D.W.) and Genetics (G.N., D.H.), and CNR-MAJ (A.Z., G.N., S.R., O.M., D.C., D.H.), Rouen University Hospital; Inserm U1079 (C.C., A.R.-L., G.N., S.R., D.C., D.H., D.W.), Normandy Centre for Genomic Medicine and Personalized Medicine, Rouen University, IRIB, Normandy University, Rouen; Department of Neurology (J.P.), CMRR and INSERM U825, Purpan University Hospital, Toulouse; CNR-MAJ (I.L.B.), Pitié-Salpêtrière Paris and CRCICM, IM2A, UMR-S975 AP-HP, University Hospital Pitié-Salpêtrière, Paris; Université Lille (F.P., A.R.-S.), Inserm U1171, Memory Centre and CNR-MAJ, CHU, Lille; Department of Neuropsychology (M.F., B.C.), CMRR, University Hospital, Groupe Hospitalier Est, Bron; Department of Neurology (M.S.), AP-HP, University Hospital Saint-Anne, Paris; Department of Neurology (C.B.-B.), CMRR, Nantes University Hospital; Department of Neurology and Neuropsychology (M.C.), Aix-Marseille University, CMRR, Timone Hospital and INSERM UMR1106, Marseille; CMRR Montpellier (A.G.), Department of Neurology, University Hospital of Montpellier and INSERM U1163, Montpellier; Department of Neurology (L.C.), CMRR, Besançon University Hospital; CMRR (F.B.), Department of Geriatrics, University Hospital of Strasbourg and ICube Laboratory, CNRS, University of Strasbourg; and CMRR Paris Nord AP-HP (C.P.), Hopital Lariboisière, INSERM, U942, Université Paris Diderot, Sorbonne Paris Cité, UMRS 942, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000003048DOI Listing
August 2016

ABCA7 rare variants and Alzheimer disease risk.

Neurology 2016 Jun 1;86(23):2134-7. Epub 2016 Apr 1.

From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.

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http://dx.doi.org/10.1212/WNL.0000000000002627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898320PMC
June 2016

The microbiota shifts the iron sensing of intestinal cells.

FASEB J 2016 Jan 14;30(1):252-61. Epub 2015 Sep 14.

*INSERM U1016, Institut Cochin, Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, Paris, France; Université Paris Descartes and Université Paris Diderot, site Bichat, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence GR-Ex, Paris, France; Institut National de la Recherche Agronomique, AgroParisTech, and Commensal and Probiotics-Host Interactions Laboratory, Unité Mixte de Recherche 1319, Microbiologie de l'Alimentation au Service de la Santé, Jouy-en-Josas, France; **INSERM Unité 1043-Centre de Physiopathologie de Toulouse Purpan and Université de Toulouse, Université Paul Sabatier, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; Centre National de la Recherche Scientifique Unité 5282, Toulouse, France; and INSERM Unité 1149, Centre de Recherches sur l'Inflammation, Paris, France

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http://www.fasebj.org/content/early/2015/09/14/fj.15-276840.
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January 2016

Porphyrias: A 2015 update.

Clin Res Hepatol Gastroenterol 2015 Sep 2;39(4):412-25. Epub 2015 Jul 2.

INSERM U1149 CNRS ERL 8252, centre de recherche sur l'inflammation, 16, rue Henri-Huchard, 75018 Paris, France; Université Versailles-Saint-Quentin, 55, Avenue de Paris, 78000 Versailles, France; Université Paris Diderot, site Bichat, Sorbonne Paris Cité, 75018 Paris, France; Centre français des porphyries, hôpital Louis-Mourier, AP-HP, 92701 Colombes, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinre.2015.05.009DOI Listing
September 2015

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Hum Mutat 2015 May 6;36(5):489-95. Epub 2015 Apr 6.

Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil.

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http://dx.doi.org/10.1002/humu.22778DOI Listing
May 2015

Dementia in middle-aged patients with schizophrenia.

J Alzheimers Dis 2014 ;39(4):809-22

Deparment of Research, Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France Inserm, U1079, Rouen, France; University of Rouen, Normandie Univ, Institute for Research and Innovation in Biomedicine, Rouen, France CNR MAJ, Rouen, Lille and Paris Salpêtrière Hospitals, France.

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http://dx.doi.org/10.3233/JAD-131688DOI Listing
October 2014

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

Eur J Hum Genet 2014 Oct 12;22(10):1236-8. Epub 2014 Feb 12.

1] Inserm U1079, Rouen, France [2] IRIB, Normandie University, Rouen, France [3] Department of Genetics, Rouen University Hospital, Rouen, France [4] CNR-MAJ, Lille, Paris-Salpêtrière and Rouen University Hospitals, Paris, France [5] Department of Neurology, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1038/ejhg.2014.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169546PMC
October 2014

Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis.

Blood 2014 Jul 5;124(3):441-4. Epub 2014 Jun 5.

INSERM, U1016, Institut Cochin, Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Laboratory of Excellence GR-Ex; and.

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http://dx.doi.org/10.1182/blood-2014-01-551150DOI Listing
July 2014

Psychosis revealing familial idiopathic basal ganglia calcification.

Gen Hosp Psychiatry 2013 Sep-Oct;35(5):575.e3-5. Epub 2012 Oct 31.

Department of Neurology, Rouen University Hospital, Rouen, France; Inserm U1079, Faculty of Medicine, University of Rouen, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.genhosppsych.2012.09.008DOI Listing
April 2014

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Neurobiol Aging 2014 Apr 9;35(4):934.e5-6. Epub 2013 Oct 9.

INSERM, UMR_S975, Institut National de la santé et de la Recherche Médeicale, Paris, France; UPMC Univsité de Paris 06, UMR S975, Paris, France; CNRS UMR 7225, Paris, France; Département de Neurologie, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.016DOI Listing
April 2014

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

JAMA Neurol 2013 Nov;70(11):1403-10

INSERM, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, F-75013, Paris, France2Université Pierre Marie Curie-Paris 06, UMR_S975, F-75013, Paris, France3Centre national de la recherche scientifique, UMR 7225, F-75013, Paris, France4AP-HP, Hôpital de la Pitié-Salpêtrière, Centre de Référence des Démences Rares, Paris, France5AP-HP, Hôpital de la Pitié-Salpêtrière, Département des maladies du système nerveux, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199096PMC
November 2013

A diagnosis of idiopathic basal ganglia calcification in an 82-year-old man.

J Am Geriatr Soc 2013 Nov;61(11):2057-9

Inserm U1079, Rouen, France; Institute for Research and Innovation in Biomedicine, Normandie University, Rouen, France; Department of Neurology, Rouen University Hospital, Rouen, France; Centre National de Référence pour les Malades Alzheimer Jeunes, Lille, Rouen, France; Paris-Salpêtrière Hospitals, France.

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http://dx.doi.org/10.1111/jgs.12527DOI Listing
November 2013

A response to the letter by Oliveira et al.

Gen Hosp Psychiatry 2013 Mar-Apr;35(2):212. Epub 2012 Dec 20.

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http://dx.doi.org/10.1016/j.genhosppsych.2012.11.007DOI Listing
September 2013

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume.

Am J Med Genet A 2011 Apr 15;155A(4):815-8. Epub 2011 Mar 15.

Department of Neurology, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.33911DOI Listing
April 2011

Hepcidin targets ferroportin for degradation in hepatocytes.

Haematologica 2010 Mar 22;95(3):501-4. Epub 2009 Sep 22.

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France.

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http://dx.doi.org/10.3324/haematol.2009.014399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833082PMC
March 2010

Chronic hepcidin induction causes hyposideremia and alters the pattern of cellular iron accumulation in hemochromatotic mice.

Blood 2006 Apr 8;107(7):2952-8. Epub 2005 Dec 8.

Institut Cochin, Faculté de Médecine Cochin Port Royal, 24, rue du Faubourg Saint Jacques 75014 Paris, France.

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http://dx.doi.org/10.1182/blood-2005-10-4071DOI Listing
April 2006

AlphaII-spectrin interacts with Tes and EVL, two actin-binding proteins located at cell contacts.

Biochem J 2005 Jun;388(Pt 2):631-8

INSERM U409, Faculté de Médecine Bichat, Association Claude Bernard, Xavier Bichat, 16 rue Henri Huchard, BP416, 75870 Paris cedex 18, France.

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http://dx.doi.org/10.1042/BJ20041502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1138971PMC
June 2005

Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice.

Blood 2005 Jun 15;105(12):4861-4. Epub 2005 Feb 15.

Institut National de la Santé et de la Recherche Médicale 567, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, Paris, France.

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June 2005

Iron- and inflammation-induced hepcidin gene expression in mice is not mediated by Kupffer cells in vivo.

Hepatology 2005 May;41(5):1056-64

Département de Génétique, Développement et Pathologie Moléculaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, Paris, France.

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http://dx.doi.org/10.1002/hep.20663DOI Listing
May 2005

[Deciphering the action mechanism of hepcidin].

Med Sci (Paris) 2005 Jan;21(1):7-9

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http://dx.doi.org/10.1051/medsci/20052117DOI Listing
January 2005

Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos.

FEBS Lett 2004 Sep;574(1-3):187-91

INSERM U409, Faculté de Médecine X. Bichat, Institut Fédératif de Recherche 02, 16 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1016/j.febslet.2004.08.010DOI Listing
September 2004

Functional differences between hepcidin 1 and 2 in transgenic mice.

Blood 2004 Apr 6;103(7):2816-21. Epub 2003 Nov 6.

Département de Génétique, Développement et Pathologie Moléculaire, Institut Cochin, Faculté de Médecine Cochin-Port Royal, Paris, France.

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http://dx.doi.org/10.1182/blood-2003-07-2524DOI Listing
April 2004

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.

Blood 2004 Apr 4;103(7):2841-3. Epub 2003 Dec 4.

INSERM 409, Faculté de Médecine Xavier Bichat, Paris, France.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2003-09-33
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April 2004

AlphaII-spectrin is an in vitro target for caspase-2, and its cleavage is regulated by calmodulin binding.

Biochem J 2004 Feb;378(Pt 1):161-8

INSERM U409, Faculté de Médecine Bichat-Association Claude Bernard, 16 rue Henri Huchard, BP416, 75870 Paris, France.

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http://biochemj.org/lookup/doi/10.1042/bj20030955
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http://dx.doi.org/10.1042/BJ20030955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223933PMC
February 2004

Hepcidin, a new iron regulatory peptide.

Blood Cells Mol Dis 2002 Nov-Dec;29(3):327-35

Département de génétique, développement et Pathologie Moléculaire, Institut Cochin, Faculté de Médecine Cochin-Port Royal, 24 rue du Fg St Jacques, 75014 Paris, France.

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November 2003

[Hepcidin, the conductor of iron homeostasis].

Presse Med 2003 Sep;32(30):1395-6

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September 2003

Identification of new partners of the epithelial sodium channel alpha subunit.

C R Biol 2003 Jul;326(7):615-24

Inserm U409 and IFR02, Institut Claude-Bernard, physiologie et pathologie, faculté de médecine Xavier-Bichat, BP 416, 75780 Paris, France.

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July 2003

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

Nat Genet 2003 May;34(1):97-101

Département de Génétique, Développement et Pathologie Moléculaire, Institut Cochin, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, 24, rue du Fg St Jacques 75014 Paris, France.

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http://dx.doi.org/10.1038/ng1150DOI Listing
May 2003

The AMP-activated protein kinase alpha2 catalytic subunit controls whole-body insulin sensitivity.

J Clin Invest 2003 Jan;111(1):91-8

Department of Genetic, Development, and Molecular Pathology, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS), René Descartes University, Paris, France.

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http://dx.doi.org/10.1172/JCI16567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151837PMC
January 2003

The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation.

J Clin Invest 2002 Oct;110(7):1037-44

Département de Génétique, Développement et Pathologie Moléculaire, Institut Cochin, INSERM, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, Paris, France.

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http://content-assets.jci.org/manuscripts/15000/15686/JCI021
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151151PMC
October 2002

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin.

Proc Natl Acad Sci U S A 2002 Apr;99(7):4596-601

Département de génétique, développement et Pathologie Moléculaire, Institut Cochin, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, 75014 Paris, France.

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http://www.pnas.org/cgi/doi/10.1073/pnas.072632499
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC123693PMC
April 2002