Camille Charbonnier
French Institute of Health and Medical Research
54 Papers
142 Citations
Camille Charbonnier is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 21, co-authored 36 publications. Previous affiliations of Camille Charbonnier include University of Évry Val d'Essonne & University of Rouen.
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Papers
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Céline Bellenguez,Fahri Küçükali,Iris E. Jansen,Luca Kleineidam,Sonia Moreno-Grau,Najaf Amin,Adam C. Naj,R. Campos-Martín,Benjamin Grenier-Boley,Víctor Andrade,Peter Holmans,Anne Boland,Vincent Damotte,S. J. van der Lee,Marcos R. Costa,Teemu Kuulasmaa,Qiong Yang,Itziar de Rojas,Joshua C. Bis,Amber Yaqub,Ivana Prokic,Julien Chapuis,Shahzad Ahmad,Vilmantas Giedraitis,Dag Aarsland,Carla Abdelnour,Emilio Alarcón-Martín,Daniel Alcolea,Montserrat Alegret,Ignacio Alvarez,Victoria Alvarez,Nicola J. Armstrong,Anthoula Tsolaki,Carmen Antúnez,Ildebrando Appollonio,Marina Arcaro,Silvana Archetti,Alfonso Arias Pastor,Beatrice Arosio,Lavinia Athanasiu,Henri Bailly,Nerisa Banaj,Miquel Baquero,Sandra Barral,Alexa S. Beiser,Ana Pastor,Jennifer E. Below,Penny Benchek,Luisa Benussi,Claudine Berr,Céline Besse,Valentina Bessi,Giuliano Binetti,Alessandra Bizarro,Rafael Blesa,Mercè Boada,Eric Boerwinkle,S. Borroni,Silvia Boschi,Paola Bossù,Geir Bråthen,Jan Bressler,Catherine Bresner,Henry Brodaty,Keeley J. Brookes,Luis I. Brusco,Dolores Buiza-Rueda,Katharina Bürger,Vanessa Burholt,William S. Bush,Miguel Calero,Laura B. Cantwell,Geneviève Chêne,Jaeyoon Chung,Michael L. Cuccaro,Angel Carracedo,Roberta Cecchetti,Laura Cervera-Carles,Camille Charbonnier,Hung-Hsin Chen,Caterina Chillotti,Simona Ciccone,Jurgen A.H.R. Claassen,Christopher M. Clark,Elisa Conti,Anaïs Corma-Gómez,Emanuele Maria Costantini,Carlo Custodero,D. Daian,Maria Carolina Dalmasso,Antonio Daniele,Efthimios Dardiotis,Jean-François Dartigues,Peter Paul De Deyn,Katia de Paiva Lopes,Lot de Witte,Stéphanie Debette,Jürgen Deckert,Teodoro Del Ser,Nicola Denning,Anita L. DeStefano,Martin Dichgans,Janine Diehl-Schmid,Monica Diez-Fairen,Paolo Rosso,Srdjan Djurovic,Emmanuelle Duron,Emrah Düzel,Carole Dufouil,Gudny Eiriksdottir,Sebastiaan Engelborghs,Valentina Escott-Price,Ana Espinosa,Michael Ewers,Kelley Faber,Tagliavini Fabrizio,Sune F. Nielsen,David W. Fardo,Lucia Farotti,Chiara Fenoglio,Marta Fernández-Fuertes,Raffaele Ferrari,Catarina Beatriz Silva Ferreira,Evelyn Ferri,Bertrand Fin,Peter Fischer,Tormod Fladby,Klaus Fliessbach,Bernard Fongang,Myriam Fornage,Juan Fortea,Tatiana Foroud,Silvia Fostinelli,Nick C. Fox,Emilio Franco-Macías,María J. Bullido,Ana Frank-García,Lutz Froelich,Brian Fulton-Howard,Daniela Galimberti,José María García-Alberca,Pablo Garcia-Gonzalez,Sebastián García-Madrona,Guillermo García-Ribas,Roberta Ghidoni,Ina Giegling,Giaccone Giorgio,Alison Goate,Oliver Goldhardt,Duber Gomez-Fonseca,Antonio González-Pérez,Caroline Graff,Giulia Grande,Emma Green,Timo Grimmer,Edna Grünblatt,Michelle Grunin,Vilmundur Gudnason,Tamar Guetta-Baranes,Annakaisa Haapasalo,Georgios M. Hadjigeorgiou,Jonathan L. Haines,Kara L. Hamilton-Nelson,Harald Hampel,Olivier Hanon,John Hardy,T. Hartmann,Lucrezia Hausner,Janet C Harwood,Stefanie Heilmann-Heimbach,Seppo Helisalmi,Michael T. Heneka,Isabel Hernández,Martin J. Herrmann,Per Hoffmann,Clive Holmes,Henne Holstege,Raquel Huerto Vilas,Marc Hulsman,Jack Humphrey,Geert Jan Biessels,Xueqiu Jian,Charlotte Johansson,Gyungah Jun,Y. Kastumata,John S. K. Kauwe,Patrick G. Kehoe,Lena Kilander,Anne Kinhult Ståhlbom,Miia Kivipelto,Anne M. Koivisto,Johannes Kornhuber,Mary H. Kosmidis,Walter A. Kukull,Pavel P. Kuksa,Brian W. Kunkle,Amanda B. Kuzma,Carmen Lage,Erika J. Laukka,Lenore J. Launer,Alessandra Lauria,Chien‐Yueh Lee,Jenni Lehtisalo,Ondrej Lerch,Alberto Lleó,W. T. Longstreth,Oscar L. Lopez,Adolfo López de Munain,Seth Love,Malin Löwemark,L. Luckcuck,Kathryn L. Lunetta,Yiyi Ma,Juan Macías,Catherine A. MacLeod,Wolfgang Mader,Francesca Mangialasche,Marco Spallazzi,Marta Marquié,Rachel Marshall,Eden R. Martin,Angel Martin Montes,Carmen Martinez Rodriguez,Carlo Masullo,Richard Mayeux,Simon Head,Patrizia Mecocci,Miguel Medina,Alun Meggy,Shima Mehrabian,Silvia Mendoza,Manuel Menéndez-González,Pablo Mir,Susanne Moebus,Merel O. Mol,Laura Molina-Porcel,Laura Montrreal,Laura Morelli,Fermin Moreno,Kevin Morgan,Thomas H. Mosley,Markus M. Nöthen,Carolina Muchnik,Shubhabrata Mukherjee,Benedetta Nacmias,Tiia Ngandu,Gaël Nicolas,Børge G. Nordestgaard,Robert Olaso,Adelina Orellana,Michela Orsini,G. Ortega,Alessandro Padovani,Caffarra Paolo,Goran Papenberg,Lucilla Parnetti,Florence Pasquier,Pau Pastor,Gina M. Peloso,Alba Pérez-Cordón,Jordi Pérez-Tur,Pierre Pericard,Oliver Peters,Yolande A.L. Pijnenburg,Juan A. Pineda,Gerard Piñol-Ripoll,Claudia Pisanu,Thomas Polak,Julius Popp,Danielle Posthuma,Josef Priller,Raquel Delgado Puerta,Olivier Quenez,Inés Quintela,Jesper Qvist Thomassen,Alberto Rábano,Innocenzo Rainero,Farid Rajabli,Inez H.G.B. Ramakers,Luis Miguel Real,Marcel J. T. Reinders,Christiane Reitz,Dolly Reyes-Dumeyer,Perry G. Ridge,Steffi G. Riedel-Heller,Peter Riederer,Natalia Roberto,Eloy Rodríguez-Rodríguez,Arvid Rongve,I. Allende,Maitée Rosende-Roca,Jose Luis Royo,Elisa Rubino,Dan Rujescu,María Eugenia Sáez,Paraskevi Sakka,Ingvild Saltvedt,Angela Sanabria,M B Sánchez-Arjona,Florentino Sanchez-Garcia,Pascual Sanchez Juan,Raquel Sánchez-Valle,Sigrid Botne Sando,Chloé Sarnowski,Claudia L. Satizabal,Michela Scamosci,Nikolaos Scarmeas,Elio Scarpini,Philip Scheltens,Norbert Scherbaum,Martin Scherer,Matthias Schmid,Anja Schneider,Jonathan M. Schott,Geir Selbæk,Davide Seripa,Manuel Serrano,Jin Sha,Alexey A. Shadrin,Olivia Anna Skrobot,Susan Slifer,G. Snijders,Hilkka Soininen,Vincenzo Solfrizzi,Alina Solomon,Yeunjoo E. Song,Sandro Sorbi,Oscar Sotolongo-Grau,Gianfranco Spalletta,Annika Spottke,Alessio Squassina,Eystein Stordal,Juan Pablo Tartan,Lluís Tárraga,Niccolò Tesi,Anbupalam Thalamuthu,Tegos Thomas,Giuseppe Tosto,Latchezar Traykov,Lucio Tremolizzo,Anne Tybjærg-Hansen,André G. Uitterlinden,Abbe Ullgren,Ingun Ulstein,Sergi Valero,Otto Valladares,Christine Van Broeckhoven,Jeffery M. Vance,Badri N. Vardarajan,Aad Van Der Lugt,Jasper Van Dongen,Jeroen van Rooij,John C. van Swieten,Rik Vandenberghe,Frans R.J. Verhey,Jean-Sébastien Vidal,Jonathan Vogelgsang,Martin Vyhnalek,Michael Wagner,David Wallon,Li-San Wang,Ruiqi Wang,Leonie Weinhold,Jens Wiltfang,Gill Windle,Bob Woods,Mary Yannakoulia,Habil Zare,Yi Zhao,Xiaoling Zhang,Congcong Zhu,Miren Zulaica,Lindsay A. Farrer,Bruce M. Psaty,Mohsen Ghanbari,Towfique Raj,Perminder S. Sachdev,Karen A. Mather,Frank Jessen,M. Arfan Ikram,Alexandre de Mendonça,Jakub Hort,Magda Tsolaki,Margaret A. Pericak-Vance,Philippe Amouyel,Julie Williams,Ruth Frikke-Schmidt,Jordi Clarimón,Jean-François Deleuze,Giacomina Rossi,Sudha Seshadri,Ole A. Andreassen,Martin Ingelsson,Mikko Hiltunen,Kristel Sleegers,Gerard D. Schellenberg,Cornelia M. van Duijn,Rebecca Sims,Wiesje M. van der Flier,Agustín Ruiz,Alfredo Ramirez,Jean-Charles Lambert +401 more
TL;DR: This paper performed a two-stage genome-wide association study with 111,326 clinically diagnosed/proxy AD cases and 677,663 controls and found 75 risk loci, of which 42 were new at the time of analysis.
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Gaëlle Bougeard,Mariette Renaux-Petel,Jean-Michel Flaman,Camille Charbonnier,Pierre Fermey,Muriel Belotti,Marion Gauthier-Villars,Dominique Stoppa-Lyonnet,Emilie Consolino,Laurence Brugières,Olivier Caron,Patrick R. Benusiglio,Brigitte Bressac-de Paillerets,Valérie Bonadona,Catherine Bonaïti-Pellié,Julie Tinat,Stéphanie Baert-Desurmont,Thierry Frebourg +17 more
TL;DR: The clinical gradient of the germline TP53 mutations, which should be validated by other studies, suggests that it might be appropriate to stratify the clinical management of LFS according to the class of the mutation.
653
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
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,Philippe Amouyel,Philippe Amouyel,Gary W. Beecham,Jennifer E. Below,Dominique Campion,Laura B. Cantwell,Camille Charbonnier,Jaeyoon Chung,Paul K. Crane,Carlos Cruchaga,L. Adrienne Cupples,Jean-François Dartigues,Stéphanie Debette,Jean-François Deleuze,Lucinda Fulton,Stacey Gabriel,Emmanuelle Génin,Richard A. Gibbs,Alison Goate,Benjamin Grenier-Boley,Namrata Gupta,Jonathan L. Haines,Aki S. Havulinna,Aki S. Havulinna,Seppo Helisalmi,Mikko Hiltunen,Daniel P. Howrigan,Daniel P. Howrigan,M. Arfan Ikram,Jaakko Kaprio,Jan Konrad,Amanda B. Kuzma,Eric S. Lander,Mark Lathrop,Terho Lehtimäki,Honghuang Lin,Kari Mattila,Richard Mayeux,Donna M. Muzny,Waleed Nasser,Benjamin M. Neale,Benjamin M. Neale,Kwangsik Nho,Gaël Nicolas,Devanshi Patel,Margaret A. Pericak-Vance,Markus Perola,Markus Perola,Markus Perola,Bruce M. Psaty,Olivier Quenez,Farid Rajabli,Richard Redon,Christiane Reitz,Anne M. Remes,Anne M. Remes,Veikko Salomaa,Chloé Sarnowski,Helena Schmidt,Michael A. Schmidt,Reinhold Schmidt,Hilkka Soininen,Timothy A. Thornton,Giuseppe Tosto,Christophe Tzourio,Sven J. van der Lee,Cornelia M. van Duijn,Otto Valladares,Badri N. Vardarajan,Li-San Wang,Weixin Wang,Ellen M. Wijsman,Richard K. Wilson,Daniela Witten,Kim C. Worley,Xiaoling Zhang,Alzheimer’s Disease Sequencing,Alzheimer’s Disease Sequencing,Alzheimer’s Disease Sequencing,Céline Bellenguez,Jean-Charles Lambert,Mitja I. Kurki,Mitja I. Kurki,Mitja I. Kurki,Aarno Palotie,Aarno Palotie,Aarno Palotie,Mark J. Daly,Mark J. Daly,Mark J. Daly,Eric Boerwinkle,Eric Boerwinkle,Kathryn L. Lunetta,Anita L. DeStefano,Josée Dupuis,Eden R. Martin,Gerard D. Schellenberg,Sudha Seshadri,Sudha Seshadri,Adam C. Naj,Myriam Fornage,Lindsay A. Farrer +118 more
TL;DR: The Alzheimer’s Disease Sequencing Project undertook whole exome sequencing in 5,740 late-onset Alzheimer disease cases and 5,096 cognitively normal controls primarily of European ancestry, identifying novel and predicted functional genetic variants in genes previously associated with AD.
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Itziar de Rojas,Itziar de Rojas,Sonia Moreno-Grau,Sonia Moreno-Grau,Niccolò Tesi,Benjamin Grenier-Boley,Victor Andrade,Victor Andrade,Iris E. Jansen,Nancy L. Pedersen,Najada Stringa,Anna Zettergren,Isabel Hernández,Isabel Hernández,Laura Montrreal,Carmen Antúnez,Anna Antonell,Rick M. Tankard,Joshua C. Bis,Rebecca Sims,Céline Bellenguez,Inés Quintela,Antonio González-Pérez,Miguel Calero,Emilio Franco-Macías,Juan Macías,Rafael Blesa,Rafael Blesa,Laura Cervera-Carles,Laura Cervera-Carles,Manuel Menéndez-González,Manuel Menéndez-González,Ana Frank-García,Jose Luis Royo,Fermin Moreno,Raquel Huerto Vilas,Miquel Baquero,Monica Diez-Fairen,Carmen Lage,Carmen Lage,Sebastian Garcia-Madrona,Pablo Garcia-Gonzalez,Emilio Alarcón-Martín,Emilio Alarcón-Martín,Sergi Valero,Sergi Valero,Oscar Sotolongo-Grau,Abbe Ullgren,Abbe Ullgren,Adam C. Naj,Afina W. Lemstra,Alba Benaque,Alba Pérez-Cordón,Alberto Benussi,Alberto Rábano,Alessandro Padovani,Alessio Squassina,Alexandre de Mendonça,Alfonso Arias Pastor,Almar A.L. Kok,Alun Meggy,Ana Belen Pastor,Ana Espinosa,Ana Espinosa,Anaïs Corma-Gómez,Angel Martin Montes,Angel Martin Montes,Angela Sanabria,Angela Sanabria,Anita L. DeStefano,Anja Schneider,Anja Schneider,Annakaisa Haapasalo,Anne Kinhult Ståhlbom,Anne Kinhult Ståhlbom,Anne Tybjærg-Hansen,Annette M. Hartmann,Annika Spottke,Annika Spottke,Arturo Corbatón-Anchuelo,Arvid Rongve,Barbara Borroni,Beatrice Arosio,Benedetta Nacmias,Børge G. Nordestgaard,Børge G. Nordestgaard,Brian W. Kunkle,Camille Charbonnier,Carla Abdelnour,Carla Abdelnour,Carlo Masullo,Carmen Martinez Rodriguez,Carmen Munoz-Fernandez,Carole Dufouil,Caroline Graff,Caroline Graff,C. Ferreira,C. Chillotti,Chandra A. Reynolds,Chiara Fenoglio,Christine Van Broeckhoven,Christopher M. Clark,Claudia Pisanu,Claudia L. Satizabal,Claudia L. Satizabal,Clive Holmes,Dolores Buiza-Rueda,Dolores Buiza-Rueda,Dag Aarsland,Dag Aarsland,Dan Rujescu,Daniel Alcolea,Daniel Alcolea,Daniela Galimberti,David Wallon,Davide Seripa,Edna Grünblatt,Efthimios Dardiotis,Emrah Düzel,Emrah Düzel,Elio Scarpini,Elisa Conti,Elisa Rubino,Ellen Gelpi,Eloy Rodríguez-Rodríguez,Eloy Rodríguez-Rodríguez,Emmanuelle Duron,Emmanuelle Duron,Eric Boerwinkle,Eric Boerwinkle,Evelyn Ferri,Fabrizio Tagliavini,Fahri Küçükali,Florence Pasquier,Florentino Sanchez-Garcia,Francesca Mangialasche,Frank Jessen,Frank Jessen,Gaël Nicolas,Geir Selbæk,Geir Selbæk,Gemma Ortega,Gemma Ortega,Geneviève Chêne,Georgios M. Hadjigeorgiou,Giacomina Rossi,Gianfranco Spalletta,Giorgio Giaccone,Giulia Grande,Giuliano Binetti,Goran Papenberg,Harald Hampel,Henri Bailly,Henrik Zetterberg,Hilkka Soininen,Ida K. Karlsson,Ida K. Karlsson,Ignacio Alvarez,Ildebrando Appollonio,Ina Giegling,Ingmar Skoog,Ingvild Saltvedt,Innocenzo Rainero,Irene Rosas Allende,Jakub Hort,Janine Diehl-Schmid,Jasper Van Dongen,Jean-Sébastien Vidal,Jenni Lehtisalo,Jenni Lehtisalo,Jens Wiltfang,Jens Wiltfang,Jens Wiltfang,Jesper Qvist Thomassen,Johannes Kornhuber,Jonathan L. Haines,Jonathan Vogelgsang,Jonathan Vogelgsang,Juan A. Pineda,Juan Fortea,Juan Fortea,Julius Popp,Julius Popp,Jürgen Deckert,Katharina Buerger,Katharina Buerger,Kevin Morgan,Klaus Fließbach,Kristel Sleegers,Laura Molina-Porcel,Lena Kilander,Leonie Weinhold,Lindsay A. Farrer,Li-San Wang,Luca Kleineidam,Luca Kleineidam,Lucia Farotti,Lucilla Parnetti,Lucio Tremolizzo,Lucrezia Hausner,Luisa Benussi,Lutz Froelich,M. Arfan Ikram,M. Candida Deniz-Naranjo,Magda Tsolaki,Maitée Rosende-Roca,Maitée Rosende-Roca,Malin Löwenmark,Marc Hulsman,Marco Spallazzi,Margaret A. Pericak-Vance,Margaret M. Esiri,Maria Bernal Sanchez-Arjona,Maria Carolina Dalmasso,María Teresa Martínez-Larrad,Marina Arcaro,Markus M. Nöthen,Marta Fernandez-Fuertes,Martin Dichgans,Martin Dichgans,Martin Ingelsson,Martin J. Herrmann,Martin Scherer,Martin Vyhnalek,Mary H. Kosmidis,Mary Yannakoulia,Matthias Schmid,Matthias Schmid,Michael Ewers,Michael Ewers,Michael T. Heneka,Michael T. Heneka,Michael Wagner,Michael Wagner,Michela Scamosci,Miia Kivipelto,Mikko Hiltunen,Miren Zulaica,Montserrat Alegret,Montserrat Alegret,Myriam Fornage,Natalia Roberto,Natasja M. van Schoor,Nazib M Seidu,Nerisa Banaj,Nicola J. Armstrong,Nikolaos Scarmeas,Nikolaos Scarmeas,Norbert Scherbaum,Oliver Goldhardt,Oliver Hanon,Oliver Peters,Oliver Peters,Olivia Anna Skrobot,Olivier Quenez,Ondrej Lerch,Paola Bossù,Paolo Caffarra,Paolo Rossi,Paraskevi Sakka,Per Hoffmann,Per Hoffmann,Peter Holmans,Peter Fischer,Peter Riederer,Qiong Yang,Rachel Marshall,Rajesh N. Kalaria,Richard Mayeux,Rik Vandenberghe,Roberta Cecchetti,Roberta Ghidoni,Ruth Frikke-Schmidt,Sandro Sorbi,Sara Hägg,Sebastiaan Engelborghs,Seppo Helisalmi,Sigrid Botne Sando,Silke Kern,Silvana Archetti,Silvia Boschi,Silvia Fostinelli,Silvia Gil,Silvia Mendoza,Simon Mead,Simona Ciccone,Srdjan Djurovic,Srdjan Djurovic,Stefanie Heilmann-Heimbach,Steffi G. Riedel-Heller,Teemu Kuulasmaa,Teodoro Del Ser,Thibaud Lebouvier,Thomas Polak,Tiia Ngandu,Tiia Ngandu,Timo Grimmer,Valentina Bessi,Valentina Escott-Price,Vilmantas Giedraitis,Vincent Deramecourt,Wolfgang Maier,Wolfgang Maier,Xueqiu Jian,Yolande A.L. Pijnenburg,Patrick Gavin Kehoe,Guillermo García-Ribas,Pascual Sánchez-Juan,Pascual Sánchez-Juan,Pau Pastor,Jordi Pérez-Tur,Jordi Pérez-Tur,Gerard Piñol-Ripoll,Adolfo López de Munain,Jose María García-Alberca,María J. Bullido,Victoria Alvarez,Alberto Lleó,Alberto Lleó,Luis Miguel Real,Pablo Mir,Pablo Mir,Miguel Medina,Philip Scheltens,Henne Holstege,Marta Marquié,Marta Marquié,María Eugenia Sáez,Angel Carracedo,Philippe Amouyel,Gerard D. Schellenberg,Julie Williams,Sudha Seshadri,Cornelia M. van Duijn,Cornelia M. van Duijn,Karen A. Mather,Karen A. Mather,Raquel Sánchez-Valle,Manuel Serrano-Ríos,Adelina Orellana,Adelina Orellana,Lluís Tárraga,Lluís Tárraga,Kaj Blennow,Kaj Blennow,Martijn Huisman,Martijn Huisman,Ole A. Andreassen,Ole A. Andreassen,Danielle Posthuma,Jordi Clarimón,Jordi Clarimón,Mercè Boada,Mercè Boada,Wiesje M. van der Flier,Alfredo Ramirez,Jean-Charles Lambert,Sven J. van der Lee,Agustín Ruiz,Agustín Ruiz +359 more
TL;DR: In this article, a large genetic association study was performed by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190).
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification
Gaël Nicolas,Cyril Pottier,Camille Charbonnier,Lucie Guyant-Maréchal,Isabelle Le Ber,Jérémie Pariente,Pierre Labauge,Xavier Ayrignac,Luc Defebvre,David Maltête,Olivier Martinaud,Romain Lefaucheur,Olivier Guillin,David Wallon,Boris Chaumette,Philippe Rondepierre,Nathalie Derache,Guillaume Fromager,Stéphane Schaeffer,Pierre Krystkowiak,Christophe Verny,Snejana Jurici,Mathilde Sauvée,Marc Vérin,Thibaud Lebouvier,Olivier Rouaud,Christel Thauvin-Robinet,Stéphane Rousseau,Anne Rovelet-Lecrux,Thierry Frebourg,Dominique Campion,Didier Hannequin +31 more
TL;DR: The first phenotypical description of a case series of patients with idiopathic basal ganglia calcification since the identification of the first causative genes is provided, confirming that clinical and radiological diversity is confirmed, whatever the genetic status.