학술논문
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'학술논문'
에서 검색결과 56건 | 목록
1~20
Academic Journal
Melanie Brügger; Carlos Machahua; Trix Zumkehr; Christiana Cismaru; Damian Jandrasits; Bettina Trüeb; Sara Ezzat; Blandina I. Oliveira Esteves; Patrick Dorn; Thomas M. Marti; Gert Zimmer; Volker Thiel; Manuela Funke-Chambour; Marco P. Alves
Respiratory Research, Vol 26, Iss 1, Pp 1-18 (2025)
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 International Reports, Vol 10, Iss 3, Pp 877-891 (2025)
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
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Marwan Nashabat; Nasrinsadat Nabavizadeh; Hilal Pırıl Saraçoğlu; Burak Sarıbaş; Şahin Avcı; Esra Börklü; Emmanuel Beillard; Elanur Yılmaz; Seyide Ecesu Uygur; Cavit Kerem Kayhan; Luca Bosco; Zeynep Bengi Eren; Katharina Steindl; Manuela Friederike Richter; Guney Bademci; Anita Rauch; Zohreh Fattahi; Maria Lucia Valentino; Anne M. Connolly; Angela Bahr; Laura Viola; Anke Katharina Bergmann; Maria Eugenia Rocha; LeShon Peart; Derly Liseth Castro-Rojas; Eva Bültmann; Suliman Khan; Miriam Liliana Giarrana; Raluca Ioana Teleanu; Joanna Michelle Gonzalez; Antonella Pini; Ines Sophie Schädlich; Katharina Vill; Melanie Brugger; Stephan Zuchner; Andreia Pinto; Sandra Donkervoort; Stephanie Ann Bivona; Anca Riza; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
G. Tuba Barut; Nico Joel Halwe; Adriano Taddeo; Jenna N. Kelly; Jacob Schön; Nadine Ebert; Lorenz Ulrich; Christelle Devisme; Silvio Steiner; Bettina Salome Trüeb; Bernd Hoffmann; Inês Berenguer Veiga; Nathan Georges François Leborgne; Etori Aguiar Moreira; Angele Breithaupt; Claudia Wylezich; Dirk Höper; Kerstin Wernike; Aurélie Godel; Lisa Thomann; Vera Flück; Hanspeter Stalder; Melanie Brügger; Blandina I. Oliveira Esteves; Beatrice Zumkehr; Guillaume Beilleau; Annika Kratzel; Kimberly Schmied; Sarah Ochsenbein; Reto M. Lang; Manon Wider; Carlos Machahua; Patrick Dorn; Thomas M. Marti; Manuela Funke-Chambour; Andri Rauch; Marek Widera; Sandra Ciesek; Ronald Dijkman; Donata Hoffmann; Marco P. Alves; Charaf Benarafa; Martin Beer; Volker Thiel
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Academic Journal
Thomas Démoulins; Melanie Brügger; Beatrice Zumkehr; Blandina I. Oliveira Esteves; Nicolas Ruggli; Marco P. Alves
STAR Protocols, Vol 3, Iss 4, Pp 101688- (2022)
Academic Journal
Amal Fahmi; Melanie Brügger; Beatrice Zumkehr; Blandina I. Oliveira Esteves; David Baud; Marco P. Alves
STAR Protocols, Vol 3, Iss 2, Pp 101291- (2022)
Academic Journal
Neeta Shrestha; Flavio Max Gall; Cyrille Mathieu; Melanie Michaela Hierweger; Melanie Brügger; Marco P. Alves; Jonathan Vesin; Damiano Banfi; David Kalbermatter; Branka Horvat; Marc Chambon; Gerardo Turcatti; Dimitrios Fotiadis; Rainer Riedl; Philippe Plattet
mBio, Vol 12, Iss 6 (2021)
Academic Journal
Sabrina Sofia Burgener; Melanie Brügger; Nathan Georges François Leborgne; Sophia Sollberger; Paola Basilico; Thomas Kaufmann; Phillip Ian Bird; Charaf Benarafa
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Academic Journal
Melanie Brügger; Thomas Démoulins; G Tuba Barut; Beatrice Zumkehr; Blandina I Oliveira Esteves; Kemal Mehinagic; Quentin Haas; Aline Schögler; Marie-Anne Rameix-Welti; Jean-François Eléouët; Ueli Moehrlen; Thomas M Marti; Ralph A Schmid; Artur Summerfield; Horst Posthaus; Nicolas Ruggli; Sean R R Hall; Marco P Alves
PLoS Pathogens, Vol 17, Iss 7, p e1009789 (2021)
Academic Journal
Thomas Démoulins; Melanie Brügger; Beatrice Zumkehr; Blandina I Oliveira Esteves; Kemal Mehinagic; Amal Fahmi; Loïc Borcard; Adriano Taddeo; Damian Jandrasits; Horst Posthaus; Charaf Benarafa; Nicolas Ruggli; Marco P Alves
PLoS Pathogens, Vol 17, Iss 4, p e1009529 (2021)
Academic Journal
Aline Schögler; Fabian Blank; Melanie Brügger; Seraina Beyeler; Stefan A. Tschanz; Nicolas Regamey; Carmen Casaulta; Thomas Geiser; Marco P. Alves
Respiratory Research, Vol 18, Iss 1, Pp 1-10 (2017)
Academic Journal
Nathalie J. Vielle; Obdulio García-Nicolás; Blandina I. Oliveira Esteves; Melanie Brügger; Artur Summerfield; Marco P. Alves
Frontiers in Microbiology, Vol 10 (2019)
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
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
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Academic Journal
Maureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
Brain.
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