Sonja Neuser - Med Ctr, Univ Leipzig

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论文共 19 篇作者统计合作学者相似作者

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Molecular and Phenotypic Characterization of the RORB-Related Disorder

Zeynep Gokce-Samar,Annalisa Vetro,Julitta De Bellescize,Tiziana Pisano,Laloe Monteiro, Noemie Penaud,Christian M. Korff,Joel Fluss,Carla Marini,Elisabetta Cesaroni,Blanca Mercedes Alvarez,Damien Sanlaville,Nicolas Chatron, Alexis A. Arzimanoglou,Audrey Labalme, Vishnu A. Cuddapah,Sarah M. Ruggiero,Francois Lecoquierre,Gael Nicolas,Guerrot Anne Marie,Axel Lebas,Herve O. Testard,Katherine L. Helbig,Anna Ruiz,Adeline Ngoh,Manju A. Kurian,Kimberley Reid,Robert Spaull,Pascal Joset,Georgia Ramantani,Katharina Steindl,Martin Krenn,Lucia Gerstl,Silvia Vieker,Dana Craiu,Manuela Pendziwiat,Chad Haldeman-Englert,Ilya Kanivets, Irina Romanova,Deepa S. Rajan,Jill A. Rosenfeld,Margaret Au,Katheryn Grand,John M. Graham Jr,Arnaud Isapof,Nathalie Villeneuve,Thomas Smol,Roseline Caumes,Pia Zacher,Sonja Neuser,Sigrid Tinschert,Konrad Platzer,Tobias Bartolomaeus, Ines Mohnke,Maximilian Radtke,Rami Abou Jamra,Ingo Helbig, Floortje E. Jansen, Klaas Koop,Gabrielle Rudolf,Sebastien Kury,Julien Courchet,Renzo Guerrini,Gaetan Lesca

NEUROLOGY（2024）

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Variants in LRRC7 Lead to Intellectual Disability, Autism, Aggression and Abnormal Eating Behaviors

Jana Willim,Daniel Woike, Daniel Greene,Sarada Das,Kevin Pfeifer, Weimin Yuan,Anika Lindsey,Omar Itani, Amber L. Boehme,Debora Tibbe,Hans-Hinrich Hoenck,Fatemeh Hassani Nia,Monika Weisz-Hubshman,Stephen C. Pak,Michael Zech,Theresa Brunet,Laurence Faivre,Arthur Sorlin,Antonio Vitobello,Thomas Smol,Cindy Colson,Kristin Baranano,Krista Schatz,Allan Bayat,Kelly Schoch,Rebecca Spillmann,Erica E. Davis,Erin Conboy,Francesco Vetrini,Konrad Platzer,Sonja Neuser,Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell,Alexander Stegmann,Margje Sinnema,Naomi Meeks,Carol Saunders,Maxime Cadieux-Dion,Juliane Hoyer,Julien Van-Gils,Jean-Madeleine de Sainte-Agathe,Michelle L. Thompson,E. Martina Bebin,Anne-Claude Tabet,Alain Verloes,Jonathan Levy,Xenia Latypova,Soenke Harder,Gary A. Silverman,Tim Schedl,Kathleen Freson,Andrew Mumford,Ernest Turro,Christian Schlein,Vandana Shashi,Hans-Juergen Kreienkamp

NATURE COMMUNICATIONSno. 1 (2024)

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CLINICAL GENETICS（2023）

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RAB11B-associated Neurodevelopmental Disorder - Confirmed and Extended to Milder Manifestations Through 13 Individuals with 5 Novel Variants

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 447-447

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The Clinical and Molecular Spectrum of ZFYVE26-associated 1 Hereditary Spastic Paraplegia: SPG15

Alessandra Tessa,Filippo M. Santorelli,Afshin Saffari,Melanie Kellner,Catherine Jordan, Helena Rosengarten,Alisa Mo,Bo Zhang,Oleksandr Strelko,Sonja Neuser,Marie Y. Davis, Nobuaki Yagi,Naonobu Futamura,Tetsuya Takeuchi,Shin Nabatame, Hiroyuki Ishiura,Shoji Tsuji,Birgit Assmann,Grace Yoon,Bianca A. Trombetta,Pia Kivisäkk,Florian Eichler,Haitian Nan,Yoshihisa Takiyama,Mustafa Şahin, C. Shan Xu, Edward Yang,Rebecca Schüle,Darius Ebrahimi‐Fakhari

Zenodo (CERN European Organization for Nuclear Research) (2022)

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Gain and Loss of TASK3 Channel Function and Its Regulation by Novel Variation Cause KCNK9 Imprinting Syndrome

Cousin Margot A.,Veale Emma L.,Dsouza Nikita R.,Tripathi Swarnendu,Holden Robyn G.,Arelin Maria,Beek Geoffrey,Bekheirnia Mir Reza,Beygo Jasmin,Bhambhani Vikas,Bialer Martin,Bigoni Stefania,Boelman Cyrus,Carmichael Jenny,Courtin Thomas,Cogne Benjamin,Dabaj Ivana,Doummar Diane, Fazilleau Laura,Ferlini Alessandra,Gavrilova Ralitza H.,Graham John M.,Haack Tobias B.,Juusola Jane,Kant Sarina G.,Kayani Saima,Keren Boris,Ketteler Petra,Klöckner Chiara,Koopmann Tamara T.,Kruisselbrink Teresa M.,Kuechler Alma,Lambert Laëtitia,Latypova Xénia,Lebel Robert Roger,Leduc Magalie S.,Leonardi Emanuela,Lewis Andrea M.,Liew Wendy,Machol Keren,Mardini Samir,McWalter Kirsty,Mignot Cyril, McLaughlin Julie,Murgia Alessandra,Narayanan Vinodh,Nava Caroline,Neuser Sonja,Nizon Mathilde,Ognibene Davide,Park Joohyun,Platzer Konrad,Poirsier Céline,Radtke Maximilian,Ramsey Keri,Runke Cassandra K.,Guillen Sacoto Maria J.,Scaglia Fernando,Shinawi Marwan,Spranger Stephanie,Tan Ee Shien,Taylor John,Trentesaux Anne-Sophie,Vairo Filippo,Willaert Rebecca,Zadeh Neda,Urrutia Raul,Babovic-Vuksanovic Dusica,Zimmermann Michael T.,Mathie Alistair,Klee Eric W.

Genome Medicine（2022）

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Beyond founder and truncting variants in TECPR2-associated disorder

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Delineation of the epileptic and neurodevelopmental phenotype associated with germline variants of the RORB gene

Z. Gokce-Samar,A. Vetro,J. de Bellescize,D. Sanlaville,T. Pisano,C. Korff,J. Fluss,C. Marini, B. Mercedes Alvarez,N. Chatron,S. Cuddapah,F. Lecoquierre,A-M Guerrot,A. Lebas,H. Testard,K. Helbig,A. Arzimanoglou,A. Labalme, A. Ruiz,A. Ngoh,M. Kurian,P. Joset,K. Steindl, N. Penaud,L. Monteiro,G. Ramantani,M. Krenn,L. Gerstl, S. Veker,D. Craiu,M. Pendziwiat, C. Haldeman-Englert,I. Kanivets, I. Romanova, D. Rajan, J. A. Mokry,M. Au,E. Cesaroni, P. Zacher,S. Neuser, M. Radtke, S. Tinschert, I. Mohnke, C. Kloeckner,I. Helbig,R. Abou Jamra, J. Courchet,S. Kury,R. Guerrini,G. Lesca

EPILEPSIA（2022）

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The Clinical, Molecular and Neuroimaging Spectrum of ZFYVE26-Related Hereditary Spastic Paraplegia (SPG15) - A Cross-Sectional Analysis of 36 Patients

A. Saffari,S. Neuser,O. Strelko,A. Mo,H. Rosengarten,C. Jordan, M. Davis,M. Sahin,C. Blackstone,E. Yang,D. Ebrahimi-Fakhari

ANNALS OF NEUROLOGY（2022）

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