F
François Salachas
Researcher at University of Paris
Publications - 147
Citations - 10240
François Salachas is an academic researcher from University of Paris. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Frontotemporal dementia. The author has an hindex of 50, co-authored 136 publications receiving 8732 citations. Previous affiliations of François Salachas include Pierre-and-Marie-Curie University & University of Sheffield.
Papers
More filters
Journal ArticleDOI
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Edor Kabashi,Paul N. Valdmanis,Patrick A. Dion,Dan Spiegelman,Brendan J. McConkey,Christine Vande Velde,Jean-Pierre Bouchard,Lucette Lacomblez,Ksenia Pochigaeva,François Salachas,Pierre-François Pradat,William Camu,Vincent Meininger,Nicolas Dupré,Nicolas Dupré,Guy A. Rouleau +15 more
TL;DR: Findings further corroborate that TDP-43 is involved in ALS pathogenesis and reports eight missense mutations in nine individuals—six from individuals with sporadic ALS and three from those with familial ALS (FALS)—and a concurring increase of a smaller T DP-43 product.
Journal ArticleDOI
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis
Chi Hong Wu,Claudia Fallini,Nicola Ticozzi,Pamela Keagle,Peter C. Sapp,Peter C. Sapp,Katarzyna Piotrowska,Patrick Lowe,Max Koppers,Diane McKenna-Yasek,Desiree M. Baron,Jason E. Kost,Paloma Gonzalez-Perez,Andrew Fox,Jenni Adams,Franco Taroni,Cinzia Tiloca,Ashley Lyn Leclerc,Shawn C. Chafe,Dev Mangroo,Melissa J. Moore,Jill A. Zitzewitz,Zuoshang Xu,Leonard H. van den Berg,Jonathan D. Glass,Gabriele Siciliano,Elizabeth T. Cirulli,David Goldstein,François Salachas,Vincent Meininger,Wilfried Rossoll,Antonia Ratti,Cinzia Gellera,Daryl A. Bosco,Gary J. Bassell,Vincenzo Silani,Vivian E. Drory,Robert H. Brown,John Landers +38 more
TL;DR: It is shown that mutations within the profilin 1 (PFN1) gene can cause FALS, and cytoskeletal pathway alterations contribute to ALS pathogenesis.
Journal ArticleDOI
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Wouter van Rheenen,Aleksey Shatunov,Annelot M. Dekker,Russell L. McLaughlin,Frank P. Diekstra,Sara L. Pulit,Rick A.A. van der Spek,Urmo Võsa,Simone de Jong,Simone de Jong,Matthew R. Robinson,Jian Yang,Isabella Fogh,Isabella Fogh,Perry T.C. van Doormaal,Gijs H.P. Tazelaar,Max Koppers,Anna M. Blokhuis,William Sproviero,Ashley R. Jones,Kevin P. Kenna,Kristel R. van Eijk,Oliver Harschnitz,Raymond D. Schellevis,William J. Brands,Jelena Medic,Androniki Menelaou,Alice Vajda,Alice Vajda,Nicola Ticozzi,Kuang Lin,Boris Rogelj,Katarina Vrabec,Metka Ravnik-Glavač,Blaž Koritnik,Janez Zidar,Lea Leonardis,Leja Dolenc Grošelj,Stéphanie Millecamps,François Salachas,Vincent Meininger,Mamede de Carvalho,Susana Pinto,Jesus S. Mora,Ricardo Rojas-García,Meraida Polak,Siddharthan Chandran,Shuna Colville,Robert Swingler,Karen E. Morrison,Pamela J. Shaw,John Hardy,Richard W. Orrell,Alan M. Pittman,Katie Sidle,Pietro Fratta,Andrea Malaspina,Simon Topp,Susanne Petri,Susanne Abdulla,Carsten Drepper,Michael Sendtner,Thomas F. Meyer,Roel A. Ophoff,Roel A. Ophoff,Roel A. Ophoff,Kim A. Staats,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M. Van Deerlin,John Q. Trojanowski,Lauren Elman,Leo McCluskey,A. Nazli Basak,Ceren Tunca,Hamid Hamzeiy,Yesim Parman,Thomas Meitinger,Peter Lichtner,Milena Radivojkov-Blagojevic,Christian R. Andres,Cindy Maurel,Gilbert Bensimon,Bernhard Landwehrmeyer,Alexis Brice,Christine Payan,Safaa Saker-Delye,Alexandra Durr,Nicholas W. Wood,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Marcella Rietschel,Sven Cichon,Markus M. Nöthen,Philippe Amouyel,Christophe Tzourio,Jean-François Dartigues,André G. Uitterlinden,Fernando Rivadeneira,Karol Estrada,Albert Hofman,Albert Hofman,Charles Curtis,Charles Curtis,Hylke M. Blauw,Anneke J. van der Kooi,Marianne de Visser,An Goris,Markus Weber,Christopher Shaw,Bradley N. Smith,Orietta Pansarasa,Cristina Cereda,Roberto Del Bo,Giacomo P. Comi,Sandra D'Alfonso,Cinzia Bertolin,Gianni Sorarù,Letizia Mazzini,Viviana Pensato,Cinzia Gellera,Cinzia Tiloca,Antonia Ratti,Andrea Calvo,Cristina Moglia,Maura Brunetti,Simona Arcuti,Rosa Capozzo,Chiara Zecca,Christian Lunetta,Silvana Penco,Nilo Riva,Alessandro Padovani,Massimiliano Filosto,Bernard Muller,Robbert Jan Stuit,Ian P. Blair,Katharine Y. Zhang,Emily P. McCann,Jennifer A. Fifita,Garth A. Nicholson,Garth A. Nicholson,Dominic B. Rowe,Roger Pamphlett,Matthew C. Kiernan,Julian Grosskreutz,Otto W. Witte,Thomas M. Ringer,Tino Prell,Beatrice Stubendorff,Ingo Kurth,Christian A. Hübner,P. Nigel Leigh,Federico Casale,Adriano Chiò,Ettore Beghi,Elisabetta Pupillo,Rosanna Tortelli,Giancarlo Logroscino,John Powell,Albert C. Ludolph,Jochen H. Weishaupt,Wim Robberecht,Philip Van Damme,Lude Franke,Tune H. Pers,Robert H. Brown,Jonathan D. Glass,John Landers,Orla Hardiman,Orla Hardiman,Peter M. Andersen,Peter M. Andersen,Philippe Corcia,Patrick Vourc'h,Vincenzo Silani,Naomi R. Wray,Peter M. Visscher,Paul I.W. de Bakker,Michael A. van Es,R. Jeroen Pasterkamp,Cathryn M. Lewis,Gerome Breen,Gerome Breen,Ammar Al-Chalabi,Leonard H. van den Berg,Jan H. Veldink +187 more
TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).
Journal ArticleDOI
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
Lina Benajiba,Isabelle Le Ber,Agnès Camuzat,M. Lacoste,Catherine Thomas-Antérion,Philippe Couratier,Solenn Legallic,François Salachas,Didier Hannequin,Marielle Decousus,Lucette Lacomblez,Eric Guedj,Véronique Golfier,William Camu,Bruno Dubois,Dominique Campion,Vincent Meininger,Alexis Brice +17 more
TL;DR: TARDBP mutations are described in two patients with FTLD‐MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP‐43 may also have a direct pathogenic role in FTLD disorders.
Journal ArticleDOI
Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
Timothy M. Miller,Merit Cudkowicz,Pamela J. Shaw,Peter M. Andersen,Nazem Atassi,Robert C. Bucelli,Angela Genge,Jonathan Glass,Shafeeq Ladha,Albert L. Ludolph,Nicholas J. Maragakis,Christopher J McDermott,Alan Pestronk,John Ravits,François Salachas,Randall G. Trudell,Philip Van Damme,Lorne Zinman,C. Frank Bennett,Roger Lane,Alfred Sandrock,Heiko Runz,Danielle Graham,Hani Houshyar,Alexander McCampbell,Ivan Nestorov,Ih Chang,Manjit McNeill,Laura Fanning,Stephanie Fradette,Toby A. Ferguson +30 more
TL;DR: In adults with ALS due to SOD1 mutations, CSF S OD1 concentrations decreased at the highest concentration of tofersen administered intrathecally over a period of 12 weeks.