Zobrazeno 1 - 10
of 351
pro vyhledávání: '"Tiina Suominen"'
Autor:
Anni Evilä, Andoni Echaniz-Laguna, Christine Tranchant, Béatrice Lannes, Gabrielle Rudolf, Sini Penttilä, Guillaume Bierry, Bjarne Udd, Peter Hackman, Tiina Suominen
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2016, 3 (2), pp.275-281. ⟨10.3233/JND-150143⟩
Journal of Neuromuscular Diseases, 2016, 3 (2), pp.275-281. ⟨10.3233/JND-150143⟩
Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. We report here a French family affected with a late onset proxi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07aad85962705caa898508dfb8295fb
https://doi.org/10.3233/jnd-150143
https://doi.org/10.3233/jnd-150143
Autor:
Nathaniel, Elia, Johanna, Palmio, Marisol Sampedro, Castañeda, Perry B, Shieh, Marbella, Quinonez, Tiina, Suominen, Michael G, Hanna, Roope, Männikkö, Bjarne, Udd, Stephen C, Cannon
Publikováno v:
Neurology. 92(13)
To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene,A combination of whole exome sequencing and targeted mutation analysis, followed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::895db4d2dd68f901eae57d55f7616b14
https://pubmed.ncbi.nlm.nih.gov/30824555
https://pubmed.ncbi.nlm.nih.gov/30824555
Autor:
Per Harald Jonson, Mridul Johari, Stuart H. Ralston, Sini Penttilä, YouJin Lee, Jaakko Sarparanta, Carolyn M. Sue, Conrad C. Weihl, Asim Azfer, Paul Maddison, David Hilton-Jones, Peter Hackman, Stephan Zierz, Patrick F. Chinnery, J. Paul Taylor, Bjarne Udd, Hans H. Goebel, Cornelia Kornblum, Mohona Sarkar, Anna Vihola, Robert C. Bucelli, Marco Savarese, Tiina Suominen, Jens Reimann, Anni Evilä, Johanna Palmio, Marie-Christine Minot, Torsten Kraya
Publikováno v:
The Journal of clinical investigation. 128(3)
Multisystem proteinopathy (MSP) involves disturbances of stress granule (SG) dynamics and autophagic protein degradation that underlie the pathogenesis of a spectrum of degenerative diseases that affect muscle, brain, and bone. Specifically, identica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81af572a16ac661fe0367cc4a2c94aca
https://pubmed.ncbi.nlm.nih.gov/29457785
https://pubmed.ncbi.nlm.nih.gov/29457785
Publikováno v:
Neuromuscular Disorders. 29:S152
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::663228475a5416f0bfc95d1f0636665e
https://doi.org/10.1016/j.nmd.2019.06.406
https://doi.org/10.1016/j.nmd.2019.06.406
Autor:
Bjarne Udd, Mark Screen, Olayinka Raheem, Linda L. Bachinski, Tiina Suominen, Ralf Krahe, Anna Vihola, Mario Sirito
Publikováno v:
Neuropathology and Applied Neurobiology. 39:390-405
A. Vihola, M. Sirito, L. L. Bachinski, O. Raheem, M. Screen, T. Suominen, R. Krahe and B. Udd (2013) Neuropathology and Applied Neurobiology39, 390–405 Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2 Aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9666e8f05e6407ccf300f0da7d7e299
https://doi.org/10.1111/j.1365-2990.2012.01289.x
https://doi.org/10.1111/j.1365-2990.2012.01289.x
Publikováno v:
Duodecim; laaketieteellinen aikakauskirja. 132(18)
Distal myopathies are a group of rare muscular dystrophies comprising more than 20 different genetic entities. The first distal myopathy in Finland, tibial muscular dystrophy, was identified more than 20 years ago. Muscle weakness predominantly affec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9865402586c95f8578bc1674b4b858aa
https://pubmed.ncbi.nlm.nih.gov/29188941
https://pubmed.ncbi.nlm.nih.gov/29188941
Autor:
J. Burge, Satu Sandell, Michael G. Hanna, Hannu Haapasalo, Sini Penttilä, Bjarne Udd, Richa Sud, Stephanie Schorge, Tiina Suominen, Kalervo Metsikkö, Olayinka Raheem, A Haworth, Mika Kaakinen
Publikováno v:
Neurology. 79:2194-2200
Most patients with myotonia have either congenital myotonia caused by mutated chloride or sodium channel, or progressive myotonic dystrophy (types 1 and 2). Currently, final diagnosis is frequently obtained by molecular genetic DNA testing. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fb89719aba8a8d6317e7a8566f73df
https://doi.org/10.1212/wnl.0b013e31827595e2
https://doi.org/10.1212/wnl.0b013e31827595e2
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
Autor:
Olayinka Raheem, Laura Valentina Renna, Fabrizio Rinaldi, Annalisa Botta, Enrico Bugiardini, Bjarne Udd, Giovanni Meola, Valeria A. Sansone, Giuseppe Novelli, Rosanna Cardani, Sini Penttilä, Alessandra Morgante, M. Giagnacovo, Tiina Suominen
Publikováno v:
Journal of Neurology. 259:2090-2099
Myotonic dystrophy type 2 (DM2) is a common adult onset muscular dystrophy caused by a dominantly transmitted (CCTG)( n ) expansion in intron 1 of the CNBP gene. In DM2 there is no obvious evidence for an intergenerational increase of expansion size,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85876aef4afc8bb8fe0cdc0a6d64db13
https://doi.org/10.1007/s00415-012-6462-1
https://doi.org/10.1007/s00415-012-6462-1
Autor:
Sini Penttilä, Olayinka Raheem, Peter Hackman, Hannu Haapasalo, Bjarne Udd, Satu Sandell, Tiina Suominen, Sanna Huovinen, Johanna Palmio
Publikováno v:
Neuromuscular Disorders. 21:551-555
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin-containing protein (VCP) gene. We report a new distal phenotype caused by VCP gene mutation in a Finnish family with nine affected m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff7a225e2d37f35edbb54d631a8ac85
https://doi.org/10.1016/j.nmd.2011.05.008
https://doi.org/10.1016/j.nmd.2011.05.008
Autor:
Tiina Suominen, Bruno Eymard, Anthony Behin, Bjarne Udd, Olayinka Raheem, Arve Dahl, Sini Penttilä, Matt Parton, Thierry Maisonobe, Odile Dubourg
Publikováno v:
Journal of Neurology. 258:1157-1163
Laing early-onset distal myopathy is a rare autosomal dominant myopathy and caused by mutations in the MYH7 gene, encoding the slow beta myosin heavy chain. We report the first molecularly verified Laing distal myopathy in a French family caused by a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a947d4ac8f86ac01cb8fedfb7046be91
https://doi.org/10.1007/s00415-011-5900-9
https://doi.org/10.1007/s00415-011-5900-9