Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Jaakko Sarparanta"'
Autor:
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 9, Pp 2392-2405 (2024)
Abstract Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the
Externí odkaz:
https://doaj.org/article/1f318ed717064dd8b12f3cd0a39c5abf
Autor:
Jaakko Sarparanta, Per Harald Jonson, Jens Reimann, Anna Vihola, Helena Luque, Sini Penttilä, Mridul Johari, Marco Savarese, Peter Hackman, Cornelia Kornblum, Bjarne Udd
Publikováno v:
Human Molecular Genetics.
Recessive mutations in the DNAJB2 gene, encoding the J-domain cochaperones DNAJB2a and DNAJB2b, have previously been reported as the genetic cause of progressive peripheral neuropathies, rarely involving pyramidal signs, parkinsonism, and myopathy. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da5fe406f8c56a4b22a552ade8aabf62
https://doi.org/10.1093/hmg/ddad058
https://doi.org/10.1093/hmg/ddad058
Autor:
Satoru Noguchi, Marion Masingue, Emilia Kerty, Conrad C. Weihl, Anna Vihola, Montse Olivé, Per Harald Jonson, Manu Jokela, Peter Hackman, Ichizo Nishino, Bjarne Udd, Rocio Bengoechea, Michio Inoue, Marco Savarese, Johanna Palmio, Masanori Nakagawa, Jaakko Sarparanta
Publikováno v:
Neuromuscul Disord
Eight patients from five families with undiagnosed dominant distal myopathy underwent clinical, neurophysiological and muscle biopsy examinations. Molecular genetic studies were performed using targeted sequencing of all known myopathy genes followed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1575046a5e987f7d8d23feee1d7272c0
https://doi.org/10.1016/j.nmd.2019.11.005
https://doi.org/10.1016/j.nmd.2019.11.005
Autor:
Salla M. Rusanen, Päivi Lahermo, Kati Donner, Anna Vihola, Marco Savarese, Peter Hackman, Jaakko Sarparanta, Mridul Johari, Mari Auranen, Sampo Koivunen, Merja Soininen, Meharji Arumilli, H. Luque, Per Harald Jonson, Bjarne Udd, Ibrahim Mahjneh
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and ObjectivesTo determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3).MethodsContinued clinical evaluation including muscle MRI and mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75fe4f98cd445a8ade61f3f9984782ca
http://hdl.handle.net/10138/338163
http://hdl.handle.net/10138/338163
Autor:
Per Harald Jonson, Peter Hackman, Anna Vihola, Jaakko Sarparanta, Johanna Palmio, Jon Andoni Urtizberea, Jan Weinberg, Federico García-Bragado, Juan José Poza, Marco Savarese, Ana Maria Cobo, Montse Olivé, Bjarne Udd
Publikováno v:
Annals of Neurology. 85:899-906
Objective To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause of this new muscular dystrophy. Methods We studied 4 families (3 from Spain and 1 from Swed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd459a055869151334a93df4ca315ab6
https://doi.org/10.1002/ana.25470
https://doi.org/10.1002/ana.25470
Autor:
Conrad C. Weihl, Bjarne Udd, Michael Hanna, Anat Ben-Zvi, Thomas Blaettler, Robert Bryson-Richardson, Serena Carra, Mazen Dimachkie, Andrew Findlay, Linda Greensmith, Stephen Greenspan, Jörg Höhfled, Per Harald Jonson, Harm Kampinga, Lars Larsson, Wolfgang Linke, Gonrdon Lynch, Pedro Machado, Lianna Orlando, Isabelle Richard, Andreas Roos, Jaakko Sarparanta, Vincent Timmerman, Conrad Weihl, Laura Zah
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Neuromuscular disorders
Neuromuscular disorders, 28(12), 1022-1030. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular Disorders, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Neuromuscular Disorders, Elsevier, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Neuromuscular disorders
Neuromuscular disorders, 28(12), 1022-1030. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular Disorders, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a39431a258365ffd6a02e7f93558679c
https://doi.org/10.1016/j.nmd.2018.09.004
https://doi.org/10.1016/j.nmd.2018.09.004
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
Autor:
Jaakko Sarparanta, H. Luque, Per Harald Jonson, Cornelia Kornblum, A. Vihola, Jens Reimann, B. Udd
Publikováno v:
Neuromuscular Disorders. 30:S79-S80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d957524efaca194fdacd94469e7a9c51
https://doi.org/10.1016/j.nmd.2020.08.117
https://doi.org/10.1016/j.nmd.2020.08.117
Publikováno v:
Journal of Neuromuscular Diseases
The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b58fe516548d21195500ac00b4f8c83f
https://doi.org/10.3233/jnd-160158
https://doi.org/10.3233/jnd-160158
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1409 (2020)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Skeletal muscle and the nervous system depend on efficient protein quality control, and they express chaperones and cochaperones at high levels to maintain protein homeostasis. Mutations in many of these proteins cause neuromuscular diseases, myopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc39db33cf47e27b67e5e7747c749cba
https://doi.org/10.3390/ijms21041409
https://doi.org/10.3390/ijms21041409