Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Sanna, Huovinen"'
Autor:
Natasha Ranu, Jenni Laitila, Hannah F. Dugdale, Jennifer Mariano, Justin S. Kolb, Carina Wallgren-Pettersson, Nanna Witting, John Vissing, Juan Jesus Vilchez, Chiara Fiorillo, Edmar Zanoteli, Mari Auranen, Manu Jokela, Giorgio Tasca, Kristl G. Claeys, Nicol C. Voermans, Johanna Palmio, Sanna Huovinen, Maurizio Moggio, Thomas Nyegaard Beck, Aikaterini Kontrogianni-Konstantopoulos, Henk Granzier, Julien Ochala
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
Abstract Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses
Externí odkaz:
https://doaj.org/article/e5ee5a8d011d4228bc2e2b2882c85e90
Autor:
Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulin, Petri Auvinen, Bjarne Udd, Peter Hackman
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)
Abstract Background Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metat
Externí odkaz:
https://doaj.org/article/ef315c11da9f43abb19995ce4bf7462b
Autor:
Manu Jokela, Sanna Huovinen, Olayinka Raheem, Mikaela Lindfors, Johanna Palmio, Sini Penttilä, Bjarne Udd
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0151376 (2016)
The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neur
Externí odkaz:
https://doaj.org/article/5bdf9f0f138a4816b63e98ac763bd752
Autor:
Per Harald Jonson, Mridul Johari, Stefano C. Previtali, Peter Hackman, Maria Elena Onore, Mathias Gautel, Manu Jokela, Marina Scarlato, Bjarne Udd, Vincenzo Nigro, Simonetta Gerevini, Anna Vihola, Marco Savarese, Annalaura Torella, Sanna Huovinen
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
article-version (Version of Record) 3
Neurology Genetics
Background and ObjectivesTo clinically, genetically, and histopathologically characterize patients presenting with an unusual combination of distal myopathy and facial weakness, without involvement of upper limb or shoulder girdle muscles.MethodsTwo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9248888d6b043c7e740fc95bf115c0b
http://europepmc.org/articles/PMC8356702
http://europepmc.org/articles/PMC8356702
Autor:
Mark Screen, Olayinka Raheem, Jeanette Holmlund-Hampf, Per Harald Jonson, Sanna Huovinen, Peter Hackman, Bjarne Udd
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90819 (2014)
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscl
Externí odkaz:
https://doaj.org/article/ef62755c369e405e9a25c3eb6f5e1f94
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
Publikováno v:
Journal of Neuromuscular Diseases. 6:143-146
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb21bcf96590930ccac12c454e3be80
https://doi.org/10.3233/jnd-180350
https://doi.org/10.3233/jnd-180350
Autor:
Sara Lehtinen, Anna Vihola, Sanna Huovinen, Bjarne Udd, A.M. Saukkonen, Johanna Palmio, Manu Jokela
Publikováno v:
Journal of Neurology
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generaliz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa483cc92bea37624161fdbbb77458c
Autor:
Peter Hackman, Petri Auvinen, Per Harald Jonson, Marco Savarese, Bjarne Udd, Sanna Huovinen, Lars Paulin
Publikováno v:
Skeletal Muscle
Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)
Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)
Background Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metatranscript
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387f83e9532a18e20159ce2f8b2865ac
https://doi.org/10.1186/s13395-018-0156-z
https://doi.org/10.1186/s13395-018-0156-z
Autor:
Kai Lehtimäki, Susanna Miettinen, Sanna Huovinen, Bettina Mannerström, Tero Niskakangas, Juha Öhman, Riitta Seppänen-Kaijansinkko, Tuomo Thesleff
Publikováno v:
Stem Cells Translational Medicine
Several alternative techniques exist to reconstruct skull defects. The complication rate of the cranioplasty procedure is high and the search for optimal materials and techniques continues. To report long-term results of patients who have received a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5053de76fb0f1e5b57b9f464d1776c6c
http://hdl.handle.net/10138/203430
http://hdl.handle.net/10138/203430