Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Johari, Mridul"'
Autor:
Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Savarese, Marco, Jokela, Manu, Torella, Annalaura, Piluso, Giulio, Said, Edith, Vella, Norbert, Cauchi, Marija, Magot, Armelle, Magri, Francesca, Mauri, Eleonora, Kornblum, Cornelia, Reimann, Jens, Stojkovic, Tanya, Romero, Norma B., Luque, Helena, Huovinen, Sanna
Publikováno v:
Acta Neuropathologica; Aug2021, Vol. 142 Issue 2, p375-393, 19p
Autor:
Berardo, Andrés, Lornage, Xavière, Johari, Mridul, Evangelista, Teresinha, Cejas, Claudia, Barroso, Fabio, Dubrovsky, Alberto, Bui, Mai Thao, Brochier, Guy, Saccoliti, Maria, Bohm, Johann, Udd, Bjarne, Laporte, Jocelyn, Romero, Norma Beatriz, Taratuto, Ana Lia
Publikováno v:
Journal of Neurology; Oct2019, Vol. 266 Issue 10, p2524-2534, 11p, 4 Color Photographs, 1 Black and White Photograph, 1 Diagram, 1 Chart
Autor:
Päivi Lahermo, Marco Savarese, Jaakko Sarparanta, Anna Vihola, Kati Donner, Norbert Vella, Cornelia Kornblum, Per Harald Jonson, Mridul Johari, Bjarne Udd, Edith Said, Francesca Magri, Giulio Piluso, Jens Reimann, Giacomo P. Comi, Sanna Huovinen, M Cauchi, H. Luque, Tanya Stojkovic, Manu Jokela, Annalaura Torella, Norma B. Romero, Peter Hackman, Eleonora Mauri, Vincenzo Nigro, Armelle Magot
Publikováno v:
Acta Neuropathologica
Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0202a0f33e709817793ec0c7955e9721
http://hdl.handle.net/11591/450332
http://hdl.handle.net/11591/450332