학술논문
'학술논문'
에서 검색결과 13건 | 목록
1~10
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
Felicia Krämer; Benedikt Gröner; Chris Hoffmann; Austin Craig; Melanie Brugger; Alexander Drzezga; Marco Timmer; Felix Neumaier; Boris D. Zlatopolskiy; Heike Endepols; Bernd Neumaier
Cancers, Vol 13, Iss 23, p 6030 (2021)
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[AR] Melanie Brugger
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