학술논문
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'학술논문'
에서 검색결과 402건 | 목록
1~20
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Academic Journal
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T.; Badmann, Susann; Brugger, Melanie; Brunet, Theresa; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G.; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid; Saparov, Alice; Schänzer, Anne; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim; Wilson, Louise C.; Yaou, Rabah Ben; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David; Maroofian, Reza; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix; Mayr, Johannes A.; Wagner, Matias
Brain. 149(2):653-667
Academic Journal
Sarah M. Brooker; Maria Novelli; Robert Coukos; Neha Prakash; Walaa A. Kamel; Marta Amengual‐Gual; Mathieu Anheim; Giulia Barcia; Tanya Bardakjian; Franciska Baur; Steffen Berweck; Bigna K. Bölsterli; Melanie Brugger; Thomas Cassini; Nicolas Chatron; Brian Corner; Hormos Salimi Dafsari; Jean‐Madeleine de Sainte Agathe; Colin A. Ellis; Kimberly M. Ezell; Cendrine Foucard; Steven J. Frucht; Maria C. Garcia; Deepak Gill; Anne Guimier; Rizwan Hamid; Damià Heine‐Suñer; Peter Herkenrath; Marie Hully; Ioannis U. Isaias; Louis Januel; Chloe Laurencin; Taylor Laut; Alinoe Lavillaureix; Gaetan Lesca; Marion Lesieur‐Sebellin; Luca Magistrelli; Cecilia Marelli; Heather C. Mefford; Bryce A. Mendelsohn; Saadet Mercimek‐Andrews; Claire Miller; Shekeeb S. Mohammad; Francesca Morgante; Sirisha Nandipati; Thomas Opladen; Mahesh Padmanaban; Micaela Pauni; Gianni Pezzoli; Amelie Piton; Francis Ramond; Giulietta M. Riboldi; Christelle Rougeot‐Jung; Fernando Santos‐Simarro; Ingrid E. Scheffer; Naoual Serari; Christine M. Stahl; Ann Stembridge Kung; Susana Tarongí Sanchez; Christel Thauvin‐Robinet; Marianne Till; Christine Tranchant; Christopher Troedson; Thomas F. Tropea; Olivier Vanakker; Patricia Vega; Maxi Leona Wiese; Udo Wieshmann; Laura J. Williams; Thomas Wirth; Michael Zech; Hans Zempel; Emmanuel Roze; Vincenzo Leuzzi; Serena Galosi; Victor S. C. Fung; Gemma Carvill; Dimitri Krainc; Elizabeth Gerard; Niccolò E. Mencacci
Ann Neurol
Academic Journal
Brügger, Melanie; Machahua, Carlos; Zumkehr, Trix; Cismaru, Christiana; Jandrasits, Damian; Trüeb, Bettina; Ezzat, Sara; Oliveira Esteves, Blandina I.; Dorn, Patrick; Marti, Thomas M.; Zimmer, Gert; Thiel, Volker; Funke-Chambour, Manuela; Alves, Marco P.
Respiratory Research. 26(1)
Academic Journal
Jasmina Ćomić; Erik Tilch; Korbinian M. Riedhammer; Melanie Brugger; Theresa Brunet; Katharina Eyring; Katharina Vill; Silke Redler; Velibor Tasic; Eberhard Schmiedeke; Frank-Mattias Schäfer; Nora Abazi-Emini; Ekkehart Jenetzky; Nicole Schwarzer; Anke Widenmann; Martin Lacher; Michael Zech; Sabine Grasshoff-Derr; Michaela Geßner; Carmen Kabs; Barbara Seitz; Andreas C. Heydweiller; Oliver Muensterer; Bärbel Lange-Sperandio; Udo Rolle; Johannes Schumacher; Matthias C. Braunisch; Riccardo Berutti; Heiko Reutter; Julia Hoefele
Kidney Int Rep
Kidney International Reports, Vol 10, Iss 3, Pp 877-891 (2025)
Kidney Int. Rep., DOI: 10.1016/j.ekir.2024.12.006 (2025)
Kidney International Reports, Vol 10, Iss 3, Pp 877-891 (2025)
Kidney Int. Rep., DOI: 10.1016/j.ekir.2024.12.006 (2025)
Academic Journal
Theresa Brunet; Michael Zech; Ulrich A. Schatz; Miriam Adamovičová; Matias Wagner; Elisabeth Graf; Riccardo Berutti; Heike Weigand; Robert Jech; Thomas Meitinger; Juliane Winkelmann; Melanie Brugger
American Journal of Medical Genetics Part A.
Academic Journal
Ugo Sorrentino; Martin Pavlov; Nazanin Mirza‐Schreiber; Melanie Brugger; Theresa Brunet; Eugenia Tsoma; Alice Saparov; Ivana Dzinovic; Philip Harrer; Antonia M. Stehr; Matias Wagner; Erik Tilch; Barbara Wallacher; Shiraz Alhasan; Anne Koy; Alessio Di Fonzo; Miriam Kolnikova; Katarina Kusikova; Petra Havrankova; Raushana Tautanova; Sandy Lösecke; Sebastian Eck; Sylvia Boesch; Jan Necpal; Matej Skorvanek; Robert Jech; Holger Prokisch; Juliane Winkelmann; Konrad Oexle; Elisabeth Graf; Michael Zech
Movement Disorders.
Academic Journal
Michael Zech; Ivana Dzinovic; Matej Skorvanek; Philip Harrer; Jan Necpal; Robert Kopajtich; Volker Kittke; Erik Tilch; Chen Zhao; Eugenia Tsoma; Ugo Sorrentino; Elisabetta Indelicato; Antonia Stehr; Alice Saparov; Lucia Abela; Miriam Adamovicova; Alexandra Afenjar; Birgit Assmann; Janette Baloghova; Matthias Baumann; Riccardo Berutti; Zuzana Brezna; Melanie Brugger; Theresa Brunet; Benjamin Cogne; Isabel Colangelo; Erin Conboy; Felix Distelmaier; Matthias Eckenweiler; Barbara Garavaglia; Arie Geerlof; Elisabeth Graf; Annette Hackenberg; Denisa Harvanova; Bernhard Haslinger; Petra Havrankova; Georg F Hoffmann; Wibke G Janzarik; Boris Keren; Miriam Kolnikova; Konstantinos Kolokotronis; Zuzana Kosutzka; Anne Koy; Martin Krenn; Magdalena Krygier; Katarina Kusikova; Oliver Maier; Thomas Meitinger; Christian Mertes; Ivan Milenkovic; Edoardo Monfrini; Andre Santos Dias Mourao; Thomas Musacchio; Mathilde Nizon; Miriam Ostrozovicova; Martin Pavlov; Iva Prihodova; Irena Rektorova; Luigi M Romito; Barbora Rybanska; Ariane Sadr-Nabavi; Susanne Schwenger; Ali Shoeibi; Alexandra Sitzberger; Dmitrii Smirnov; Jana Svantnerova; Raushana Tautanova; Sandra P Toelle; Olga Ulmanova; Francesco Vetrini; Katharina Vill; Matias Wagner; David Weise; Giovanna Zorzi; Alessio Di Fonzo; Konrad Oexle; Steffen Berweck; Volker Mall; Sylvia Boesch; Barbara Schormair; Holger Prokisch; Robert Jech; Juliane Winkelmann
Brain
Academic Journal
Nawale Hadouiri; Lidiane Pereira Garcia; Romain Baudat; Paloma Parra-Díaz; Antonio Gil-Nagel Rein; Isabel Del Pino; Sandra Whalen; Sarah Grotto; Theresa Brunet; Melanie Brugger; Dana Marafi; Katharina Vill; Damien Lederer; Deniz Karadurmus; Julie Desir; Marie Cécile Nassogne; Maud Favier; Siddharth Srivastava; Elise Brischoux Boucher; Jonathan Levy; Dana Young; Gabriella Horvath; Isabelle Marey; Klaus Dieterich; Chiara Fiorillo; Heike Weigand; Nora Hannane; Amelle Shillington; Lila Stange; Aditi Dagli; Emanuela Argilli; Carolyn Le; Elliott H. Sherr; Bo Hoon Lee; Ryan W Gates; Isabelle Maystadt; Marie Deprez; Gaetan Lesca; Gilles Rode; Valentin Ruault; Luca Soliani; Evamaria Lanzarini; Alison J. Eaton; François D. Morneau-Jacob; Gillian Prinzing; Annapurna Poduri; Stephanie Sacharow; Stephen R. Chorney; Elisa Rahikkala; Vasileiou Georgia; André Reis; Melissa Pauly; Ulrike Huffmeier; Cornelia Kraus; Christopher P. Barnett; Hamish S Scott; Daniel Calame; Jeremy A. Tanner; Egidio Spinelli; Frédéric Tran Mau-Them; Mathieu Gueugnon; François Lebeaupin; Antonio Vitobello; Laurence Faivre; Philippe Lory; Christel Thauvin-Robinet; Arnaud Monteil
Academic Journal
Martin Krenn; Matias Wagner; Karin Trimmel; Silvia Bonelli; Jakob Rath; Judith Jud; Michelle Schwarz; Ivan Milenkovic; Rosa Weng; Johannes Koren; Christoph Baumgartner; Melanie Brugger; Theresa Brunet; Elisabeth Graf; Juliane Winkelmann; Susanne Aull-Watschinger; Fritz Zimprich; Ekaterina Pataraia
Neurol Genet
Academic Journal
Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
Nat Genet
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Academic Journal
Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias
Nature Genetics. :1-2
Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation
Academic Journal
Tandis Parvizi; Sigrid Klotz; Omar Keritam; Haluk Caliskan; Sophie Imhof; Theresa König; Lukas Haider; Tatjana Traub‐Weidinger; Matias Wagner; Theresa Brunet; Melanie Brugger; Alexander Zimprich; Jakob Rath; Elisabeth Stögmann; Ellen Gelpi; Hakan Cetin
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
Ann. Clin. Transl. Neurol. 11, 1579-1589 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
Ann. Clin. Transl. Neurol. 11, 1579-1589 (2024)
Academic Journal
Maureen Jacob; Melanie Brugger; Stephanie Andres; Matias Wagner; Elisabeth Graf; Riccardo Berutti; Erik Tilch; Martin Pavlov; Katharina Mayerhanser; Julia Hoefele; Thomas Meitinger; Juliane Winkelmann; Theresa Brunet
Neuropediatrics, DOI: 10.1055/s-0044-1782680 (2024)
Academic Journal
Sidler, Melanie; Brugger, Daniel; Riond, Barbara; Dennler, Matthias; Unterer, Stefan; Kook, Peter H.
Journal of Veterinary Internal Medicine. June 1, 2025, Vol. 39 Issue 4
Academic Journal
Martin Krenn; Matias Wagner; Gudrun Zulehner; Rosa Weng; Fiona Jäger; Omar Keritam; Merve Sener; Christof Brücke; Ivan Milenkovic; Agnes Langer; Dominic Buchinger; Richard Habersam; Katharina Mayerhanser; Melanie Brugger; Theresa Brunet; Maureen Jacob; Elisabeth Graf; Riccardo Berutti; Hakan Cetin; Julia Hoefele; Juliane Winkelmann; Fritz Zimprich; Jakob Rath
J Neurol
J. Neurol., DOI: 10.1007/s00415-023-12101-6 (2023)
J. Neurol., DOI: 10.1007/s00415-023-12101-6 (2023)
Academic Journal
Schön, Jacob; Barut, G. Tuba; Trüeb, Bettina Salome; Halwe, Nico Joel; Berenguer Veiga, Inês; Kratzel, Annika; Ulrich, Lorenz; Kelly, Jenna N.; Brügger, Melanie; Wylezich, Claudia; Taddeo, Adriano; Aguiar Moreira, Etori; Túrós, Demeter; Grau-Roma, Llorenç; Ahrens, Ann Kathrin; Schlottau, Kore; Britzke, Tobias; Breithaupt, Angele; Corleis, Björn; Kochmann, Jana; Oliveira Esteves, Blandina I.; Almeida, Lea; Thomann, Lisa; Devisme, Christelle; Stalder, Hanspeter; Steiner, Silvio; Ochsenbein, Sarah; Schmied, Kimberly; Labroussaa, Fabien; Jores, Jörg; V’kovski, Philip; Cmiljanovic, Vladimir; Alves, Marco P.; Benarafa, Charaf; Ebert, Nadine; Hoffmann, Donata; Beer, Martin; Thiel, Volker
Nature Microbiology. 9(8):2099-2112
Academic Journal
Mov Disord Clin Pract
Academic Journal
Saparov, Alice; Dzinovic, Ivana; Brunet, Theresa; Yepez, Vicente A.; Holzlwimmer, Florian; Indelicato, Elisabetta; Assmann, Birgit; Badmann, Susann; Ballhausen, Diana; Berweck, Steffen; Brechtmann, Felix; Brugger, Melanie; Derderian, Kevork; Distelmaier, Felix; Harrer, Philip; Harvanova, Denisa; Havrankova, Petra; Jaroszynski, Ann-kathrin; Kolnikova, Miriam; Kopajtich, Robert; Koy, Anne; Krygier, Magdalena; Kunc, Lukas; Kusikova, Katarina; Maier, Oliver; Mazurkiewicz-beldzinska, Maria; Mertes, Christian; Oberlack, Ava; Roser, Timo; Sitzberger, Alexandra; Sorrentino, Ugo; Stehr, Antonia M.; Vill, Katharina; Wagner, Matias; Prokisch, Holger; Boesch, Sylvia; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Graf, Elisabeth; Gagneur, Julien; Skorvanek, Matej; Zech, Michael
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schädlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Gläser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Bönnemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Hülya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie
Nature Communications. 15(1)
Academic Journal
Annalisa Vetro; Cristiana Pelorosso; Simona Balestrini; Alessio Masi; Sophie Hambleton; Emanuela Argilli; Valerio Conti; Simone Giubbolini; Rebekah Barrick; Gaber Bergant; Karin Writzl; Emilia K. Bijlsma; Theresa Brunet; Pilar Cacheiro; Davide Mei; Anita Devlin; Mariëtte J.V. Hoffer; Keren Machol; Guido Mannaioni; Masamune Sakamoto; Manoj P. Menezes; Thomas Courtin; Elliott Sherr; Riccardo Parra; Ruth Richardson; Tony Roscioli; Marcello Scala; Celina von Stülpnagel; Damian Smedley; Francesca Pochiero; Francesco Mari; Venkateswaran Ramesh; Valeria Capra; Margherita Mancardi; Boris Keren; Cyiril Mignot; Matteo Lulli; Kendall Parks; Helen Griffin; Melanie Brugger; Vincenzo Nigro; Yuko Hirata; Reiko Koichihara; Borut Peterlin; Ryuto Maki; Yohei Nitta; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Matthew A. Brown; Mark J. Caulfield; Georgia C. Chan; Adam Giess; John N. Griffin; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Daniel Perez-Gil; Marina B. Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki; Annalaura Torella; Jun Tohyama; Keisuke Hamada; Kazuhiro Ogata; Takashi Suzuki; Atsushi Sugie; Jasper J. van der Smagt; Koen van Gassen; Stephanie Valence; Emma Vittery; Stephen Malone; Mitsuhiro Kato; Naomichi Matsumoto; Gian Michele Ratto; Renzo Guerrini
Am J Hum Genet
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen;Brugger , Melanie ; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen;
American Journal of Human Genetics, vol 110, iss 8
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