Christel Depienne
AuthID: R-00F-J1A
1
TITLE: PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals
AUTHORS: Kampmeier, Antje; Leitao, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C.; Hsieh, Tzung Chien; Afenjar, Alexandra; Beck Woedl, Stefanie; Grasshoff, Ute; Haack, Tobias B.; Bijlsma, Emilia K.; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpaa, Maria K.; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; ...More
PUBLISHED: 2023, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 10
AUTHORS: Kampmeier, Antje; Leitao, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C.; Hsieh, Tzung Chien; Afenjar, Alexandra; Beck Woedl, Stefanie; Grasshoff, Ute; Haack, Tobias B.; Bijlsma, Emilia K.; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpaa, Maria K.; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; ...More
PUBLISHED: 2023, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 10
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: ARTICLE Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
AUTHORS: Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 9
AUTHORS: Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 9
INDEXED IN: WOS
WOS3
TITLE: Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study Full Text
AUTHORS: Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E.; Mueller, Kathrin; Silveira, Isabel; Weishaupt, Jochen H.; Toennies, Holger; Seibler, Philip; Zschiedrich, Katja; Schaake, Susen; Westenberger, Ana; Zuehlke, Christine; Depienne, Christel; Trinh, Joanne; Ludolph, Albert C.; Klein, Christine; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS
AUTHORS: Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E.; Mueller, Kathrin; Silveira, Isabel; Weishaupt, Jochen H.; Toennies, Holger; Seibler, Philip; Zschiedrich, Katja; Schaake, Susen; Westenberger, Ana; Zuehlke, Christine; Depienne, Christel; Trinh, Joanne; Ludolph, Albert C.; Klein, Christine; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy Full Text
AUTHORS: Gemma L Carvill; Katherine L Helbig; Candace T Myers; Marcello Scala; Robert Huether; Sara Lewis; Tyler N Kruer; Brandon S Guida; Somayeh Bakhtiari; Joy Sebe; Sha Tang; Heather Stickney; Sehribani Ulusoy Oktay; Ashwin A Bhandiwad; Keri Ramsey; Vinodh Narayanan; Timothy Feyma; Luis O Rohena; Andrea Accogli; Mariasavina Severino; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 7
AUTHORS: Gemma L Carvill; Katherine L Helbig; Candace T Myers; Marcello Scala; Robert Huether; Sara Lewis; Tyler N Kruer; Brandon S Guida; Somayeh Bakhtiari; Joy Sebe; Sha Tang; Heather Stickney; Sehribani Ulusoy Oktay; Ashwin A Bhandiwad; Keri Ramsey; Vinodh Narayanan; Timothy Feyma; Luis O Rohena; Andrea Accogli; Mariasavina Severino; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond Full Text
AUTHORS: Carla Marini; Alessandro Porro; Agnes Rastetter; Carine Dalle; Ilaria Rivolta; Daniel Bauer; Renske Oegema; Caroline Nava; Elena Parrini; Davide Mei; Catherine Mercer; Radhika Dhamija; Chelsea Chambers; Christine Coubes; Julien Thevenon; Paul Kuentz; Sophie Julia; Laurent Pasquier; Christele Dubourg; Wilfrid Carre; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 11
AUTHORS: Carla Marini; Alessandro Porro; Agnes Rastetter; Carine Dalle; Ilaria Rivolta; Daniel Bauer; Renske Oegema; Caroline Nava; Elena Parrini; Davide Mei; Catherine Mercer; Radhika Dhamija; Chelsea Chambers; Christine Coubes; Julien Thevenon; Paul Kuentz; Sophie Julia; Laurent Pasquier; Christele Dubourg; Wilfrid Carre; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: Delineating theGRIN1phenotypic spectrum. A distinct genetic NMDA receptor encephalopathy
AUTHORS: Johannes R Lemke; Kirsten Geider; Katherine L Helbig; Henrike O Heyne; Hannah Schütz; Julia Hentschel; Carolina Courage; Christel Depienne; Caroline Nava; Delphine Heron; Rikke S Møller; Helle Hjalgrim; Dennis Lal; Bernd A Neubauer; Peter Nürnberg; Holger Thiele; Gerhard Kurlemann; Georgianne L Arnold; Vikas Bhambhani; Deborah Bartholdi; ...More
PUBLISHED: 2016, SOURCE: Neurology, VOLUME: 86, ISSUE: 23
AUTHORS: Johannes R Lemke; Kirsten Geider; Katherine L Helbig; Henrike O Heyne; Hannah Schütz; Julia Hentschel; Carolina Courage; Christel Depienne; Caroline Nava; Delphine Heron; Rikke S Møller; Helle Hjalgrim; Dennis Lal; Bernd A Neubauer; Peter Nürnberg; Holger Thiele; Gerhard Kurlemann; Georgianne L Arnold; Vikas Bhambhani; Deborah Bartholdi; ...More
PUBLISHED: 2016, SOURCE: Neurology, VOLUME: 86, ISSUE: 23
INDEXED IN: 
CrossRef
CrossRef7
TITLE: Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia Full Text
AUTHORS: Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne Laporte; Feifei F Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphael Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice Picard; ...More
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 8
AUTHORS: Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne Laporte; Feifei F Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphael Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice Picard; ...More
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 8
8
TITLE: Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
AUTHORS: Typhaine Esteves; Alexandra Durr; Emeline Mundwiller; Jose L Loureiro; Maxime Boutry; Michael A Gonzalez; Julie Gauthier; Khalid H El Hachimi; Christel Depienne; Marie Paule Muriel; Rafael Acosta A Lebrigio; Marion Gaussen; Anne Noreau; Fiorella Speziani; Alexandre Dionne Laporte; Jean Francois Deleuze; Patrick Dion; Paula Coutinho; Guy A Rouleau; Stephan Zuchner; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 94, ISSUE: 2
AUTHORS: Typhaine Esteves; Alexandra Durr; Emeline Mundwiller; Jose L Loureiro; Maxime Boutry; Michael A Gonzalez; Julie Gauthier; Khalid H El Hachimi; Christel Depienne; Marie Paule Muriel; Rafael Acosta A Lebrigio; Marion Gaussen; Anne Noreau; Fiorella Speziani; Alexandre Dionne Laporte; Jean Francois Deleuze; Patrick Dion; Paula Coutinho; Guy A Rouleau; Stephan Zuchner; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 94, ISSUE: 2
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TITLE: Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Celine Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frederic Sedel; Christel Depienne; Agnes Camuzat; Veronique Golfier; Foucaud Du Boisgueheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; ...More
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 7
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Celine Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frederic Sedel; Christel Depienne; Agnes Camuzat; Veronique Golfier; Foucaud Du Boisgueheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; ...More
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS10
TITLE: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration Full Text
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
