Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Johari, Mridul"'
Autor:
Zhong H; Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan University, Shanghai, China. huatwofold@outlook.com., Sian V; Department of Precision Medicine, 'Luigi Vanvitelli' University of Campania, Via L. De Crecchio 7, Naples, Italy., Johari M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Katayama S; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden., Oghabian A; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Jonson PH; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Hackman P; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Savarese M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Udd B; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, University Hospital, Tampere, Finland.
Publikováno v:
Communications biology [Commun Biol] 2024 Apr 10; Vol. 7 (1), pp. 438. Date of Electronic Publication: 2024 Apr 10.
Autor:
Johari M; Folkhälsan Research Center, Helsinki, Finland. mridul.johari@helsinki.fi.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland. mridul.johari@helsinki.fi., Sarparanta J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Vihola A; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Center, Fimlab Laboratories, Tampere University and University Hospital, Tampere, Finland., Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Jokela M; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.; Division of Clinical Neurosciences, Department of Neurology, Turku University Hospital, Turku, Finland., Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Said E; Section of Medical Genetics, Mater Dei Hospital, Msida, Malta.; Department of Anatomy and Cell Biology, Faculty of Medicine and Surgery, University of Malta, Msida, Malta., Vella N; Neuroscience Department, Mater Dei Hospital, Msida, Malta., Cauchi M; Neuroscience Department, Mater Dei Hospital, Msida, Malta., Magot A; Neuromuscular Disease Center AOC, University Hospital Nantes, Nantes, France., Magri F; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Mauri E; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Kornblum C; Department of Neurology, University Hospital Bonn, Bonn, Germany., Reimann J; Department of Neurology, University Hospital Bonn, Bonn, Germany., Stojkovic T; AP-HP, Institute of Myology, Centre de Référence des Maladies Neuromusculaires, Hôpital Pitié-Salpêtrière, Paris, France., Romero NB; Neuromuscular Morphology Unit, Institute of Myology, Myology Research Centre INSERM, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Luque H; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Huovinen S; Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland., Lahermo P; Institute for Molecular Medicine Finland FIMM, Technology Centre, University of Helsinki, Helsinki, Finland., Donner K; Institute for Molecular Medicine Finland FIMM, Technology Centre, University of Helsinki, Helsinki, Finland., Comi GP; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Hackman P; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Udd B; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2021 Aug; Vol. 142 (2), pp. 375-393. Date of Electronic Publication: 2021 May 11.
Autor:
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese
Publikováno v:
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments. This important structural protein also binds N-termi
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