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Perrine Charles

sorbonne university - pitié salpêtrière hospital

60H-index
200Paper Count
1.1WCitation Count
Published Papers 95
Publication Date
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Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
errThe American Journal of Human Genetics
IF0
err2025-11-19
err0
PREAI
errBrandon Bresack; Laura Renée Kohl; Alexandra Afenjar; Frédérique Audic; Lydie Burglen; Perrine Charles; Nihal Olgac Dundar; Jiddeke van de Kamp; Keren Machol; Pilar Magoulas; Odile Goze-Martineau; Mahdi Motazacker; Heike Philippi; Alejandra Reyes; Omar A.Z. Tutakhel; Aida Bertoli-Avella; Heinrich Sticht; Rami Abou Jamra; Henry Oppermann
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders
errCell
IF42.5
err2025-10-07
err0
errOAAI
errMatthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
errGenome Medicine
IF11.2
err2025-10-04
err0
errOAAI
errSalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
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GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
errEpilepsia
IF6.6
err2025-06-18
err0
errOAAI
errMarie Adamo-Croux; Chloé Angelini; Jérôme Aupy; Laurent Villard; Nathalie Villeneuve; Arnaud Chefdor; Yorsa Halleb; Maxime Colmard; Manon Degoutin; Gaetan Lesca; Perrine Charles; Boris Keren; Nicole Chemaly; Cyril Goizet; Mathieu Milh; Claire Bar
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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
errAnnals of Neurology
IF7.7
err2025-06-05
err0
errOAAI
errClara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-05-27
err0
errOAAI
errViora-Dupont, Eleonore; Robert, Francoise; Chassagne, Aline; Pelissier, Aurore; Staraci, Stephanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frederic; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Heron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence
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CAG repeat mosaicism is gene specific in spinocerebellar ataxias
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-05-01
err7
errOAAI
errKacher, Radhia; Lejeune, Francois-Xavier; David, Isabelle; Boluda, Susana; Coarelli, Giulia; Leclere-Turbant, Sabrina; Heinzmann, Anna; Marelli, Cecilia; Charles, Perrine; Goizet, Cyril; Kabir, Nisha; Hilab, Rania; Jornea, Ludmila; Six, Julie; Dommergues, Marc; Fauret, Anne-Laure; Brice, Alexis; Humbert, Sandrine; Durr, Alexandra
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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
errEBIOMEDICINE
IF10.8
err2024-01-01
err15
errOAAI
errMereaux, Jean-Loup; Davoine, Claire-Sophie; Pellerin, David; Coarelli, Giulia; Coutelier, Marie; Ewenczyk, Claire; Monin, Marie -Lorraine; Anheim, Mathieu; Le Ber, Isabelle; Thobois, Stephane; Gobert, Florent; Guillot-Noel, Lena; Forlani, Sylvie; Jornea, Ludmila; Heinzmann, Anna; Sangare, Aude; Gaymard, Bertrand; Guyant-Marechal, Lucie; Charles, Perrine; Marelli, Cecilia; Honnorat, Jerome; Degos, Bertrand; Tison, Francois; Sangla, Sophie; Simonetta-Moreau, Marion; Salachas, Francois; Tchikviladze, Maya; Castelnovo, Giovanni; Mochel, Fanny; Klebe, Stephan; Castrioto, Anna; Fenu, Silvia; Meneret, Aurelie; Bourdain, Frederic; Wandzel, Marion; Roth, Virginie; Bonnet, Celine; Riant, Florence; Stevanin, Giovanni; Noel, Sandrine; Fauret-Amsellem, Anne-Laure; Bahlo, Melanie; Lockhart, Paul J.; Brais, Bernard; Renaud, Mathilde; Brice, Alexis; Durra, Alexandra
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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
errHUMAN GENETICS
IF3.6
err2023-12-20
err9
PREAI
errSchmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
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IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia
errNEUROLOGY-GENETICS
IF3.7
err2023-12-01
err1
errOAAI
errHeide, Solveig; Davoine, Claire-Sophie; Cunha, Paulina; Scherer-Gagou, Clarisse; Keren, Boris; Stevanin, Giovanni; Charles, Perrine; Heron, Delphine; Brice, Alexis; Durr, Alexandra
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errSave
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-10-25
err3
PREAI
errGras, Mathilde; Heide, Solveig; Keren, Boris; Valence, Stephanie; Garel, Catherine; Whalen, Sandra; Jansen, Anna C.; Keymolen, Kathelijn; Stouffs, Katrien; Jennesson, Melanie; Poirsier, Celine; Lesca, Gaetan; Depienne, Christel; Nava, Caroline; Rastetter, Agnes; Curie, Aurore; Cuisset, Laurence; Des Portes, Vincent; Milh, Mathieu; Charles, Perrine; Mignot, Cyril; Heron, Delphine
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errSave
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-10-23
err11
errOAAI
errHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
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A new neurodevelopmental disorder linked to heterozygous variants in UNC79
errGENETICS IN MEDICINE
IF6.2
err2023-09-01
err7
PREAI
errBayat, Allan; Liu, Zhenjiang; Luo, Sheng; Fenger, Christina D.; Hojte, Anne F.; Isidor, Bertrand; Cogne, Benjamin; Larson, Austin; Zanus, Caterina; Faletra, Flavio; Keren, Boris; Musante, Luciana; Gourfikel-An, Isabelle; Perrine, Charles; Demily, Caroline; Lesca, Gaeton; Liao, Weiping; Ren, Dejian
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errSave
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis
errANNALS OF PHYSICAL AND REHABILITATION MEDICINE
IF4.6
err2023-09-01
err2
errOAAI
errLallemant-Dudek, Pauline; Parodi, Livia; Coarelli, Giulia; Heinzmann, Anna; Charles, Perrine; Ewenczyk, Claire; Fenu, Silvia; Monin, Marie-Lorraine; Corcia, Philippe; Depienne, Christel; Mochel, Fanny; Benard, Jean; Montcel, Sophie Tezenas du; Durr, Alexandra
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errSave
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-07-01
err16
errOAAI
errCunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
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Huntington's Disease with Small CAG Repeat Expansions
errMOVEMENT DISORDERS
IF7.6
err2023-06-08
err1
errOAAI
errHeinzmann, Anna; Sayah, Sabrina; Lejeune, Francois-Xavier; Hahn, Valerie; Teichmann, Marc; Monin, Marie-Lorraine; Marchionni, Enrica; Gerard, Fleur; Charles, Perrine; Pariente, Jeremie; Durr, Alexandra
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errSave
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1
errNEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
err2023-03-15
err4
errOAAI
errCoarelli, Giulia; Tchikviladze, Maya; Dodet, Pauline; Arnulf, Isabelle; Charles, Perrine; Tankere, Frederic; Similowski, Thomas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Durr, Alexandra
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errSave
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
errGENETICS IN MEDICINE
IF6.2
err2023-02-01
err19
errOAAI
errBarbier, Mathieu; Davoine, Claire -Sophie; Petit, Emilien; Porch, Maximilien; Guillot-Noel, Lena; Sayah, Sabrina; Fauret, Anne-Laure; Neau, Jean-Philippe; Guyant-Marechal, Lucie; Deffond, Didier; Tranchant, Christine; Goizet, Cyril; Coarelli, Giulia; Castrioto, Anna; Klebe, Stephan; Ewenczyk, Claire; Heinzmann, Anna; Charles, Perrine; Tchikviladze, Maya; van Broeckhoven, Christine; Brice, Alexis; Durr, Alexandra
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Research Directions

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Co-authors
Cooperation Journals
A
Alexis Brice
H-index: 153 · Papers: 1.2K
G
Guy A. Rouleau
H-index: 146 · Papers: 1.3K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
C
Christine Van Broeckhoven
H-index: 141 · Papers: 1.2K
H
Hölger Thiele
H-index: 134 · Papers: 1.8K
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