Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Emil Ylikallio"'
Autor:
Nadja Ratia, Edouard Palu, Hanna Lantto, Emil Ylikallio, Ritva Luukkonen, Anu Suomalainen, Mari Auranen, Päivi Piirilä
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionSpinal muscular atrophy, Jokela type (SMAJ) is a rare autosomal dominantly hereditary form of spinal muscular atrophy caused by a point mutation c.197G>T in CHCHD10. CHCHD10 is known to be involved in the regulation of mitochondrial funct
Externí odkaz:
https://doaj.org/article/e7cdf08fadf84726b0c12e38e21565db
Autor:
Aleksi Sutinen, Giang Thi Tuyet Nguyen, Arne Raasakka, Gopinath Muruganandam, Remy Loris, Emil Ylikallio, Henna Tyynismaa, Luca Bartesaghi, Salla Ruskamo, Petri Kursula
Publikováno v:
FEBS Open Bio, Vol 12, Iss 7, Pp 1306-1324 (2022)
Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its different subtypes are linked to mutations in dozens of different genes. Mutations in ganglioside‐induced differentiation‐associated p
Externí odkaz:
https://doaj.org/article/4e1bc0752cf64ca19c72433a691f3831
Autor:
Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1962-1972 (2020)
Abstract Objective ITPR3, encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that ITPR3 is a
Externí odkaz:
https://doaj.org/article/b677654436f5422098c6dce97f6fade5
Autor:
Markus T. Sainio, Tiina Rasila, Svetlana M. Molchanova, Julius Järvilehto, Rubén Torregrosa-Muñumer, Sandra Harjuhaahto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Henrik Zetterberg, Tomi Taira, Johanna Palmio, Emil Ylikallio, Henna Tyynismaa
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2022)
Neurofilament light (NFL) is one of the proteins forming multimeric neuron-specific intermediate filaments, neurofilaments, which fill the axonal cytoplasm, establish caliber growth, and provide structural support. Dominant missense mutations and rec
Externí odkaz:
https://doaj.org/article/f4541e595e534acebc0b20319f10d18f
Autor:
Julius Järvilehto, Sandra Harjuhaahto, Edouard Palu, Mari Auranen, Jouni Kvist, Henrik Zetterberg, Johanna Koskivuori, Marko Lehtonen, Anna Maija Saukkonen, Manu Jokela, Emil Ylikallio, Henna Tyynismaa
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveTo characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms.MethodsWe collected serum samples from a cohort of 49 patie
Externí odkaz:
https://doaj.org/article/09751361605348e99fce83f29529ae93
Autor:
Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Publikováno v:
Neurobiology of Disease, Vol 119, Iss , Pp 159-171 (2018)
Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (
Externí odkaz:
https://doaj.org/article/4dd012f21baf4cd2b4f522f52e36c6f3
Autor:
Sandra Harjuhaahto, Tiina S. Rasila, Svetlana M. Molchanova, Rosa Woldegebriel, Jouni Kvist, Svetlana Konovalova, Markus T. Sainio, Jana Pennonen, Rubén Torregrosa-Muñumer, Hazem Ibrahim, Timo Otonkoski, Tomi Taira, Emil Ylikallio, Henna Tyynismaa
Publikováno v:
Neurobiology of Disease, Vol 141, Iss , Pp 104940- (2020)
Mitochondrial intermembrane space proteins CHCHD2 and CHCHD10 have roles in motor neuron diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy and axonal neuropathy and in Parkinson's disease. They form a complex of unknown function
Externí odkaz:
https://doaj.org/article/7dd3bc2f74c846f5b352a344121de51b
Autor:
Atsushi Tanaka, Tomomi Ide, Takeo Fujino, Ken Onitsuka, Masataka Ikeda, Takako Takehara, Yuko Hata, Emil Ylikallio, Henna Tyynismaa, Anu Suomalainen, Kenji Sunagawa
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67642 (2013)
Myocardial mitochondrial DNA (mtDNA) copy number decreases in heart failure. In post-myocardial infarction mice, increasing mtDNA copy number by overexpressing mitochondrial transcription factor attenuates mtDNA deficiency and ameliorates pathologica
Externí odkaz:
https://doaj.org/article/227f0dfbabc440eba3c453847b1c3aff
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Autor:
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd1d51311f5e2b61ad26c923c76fc7
http://hdl.handle.net/10138/353498
http://hdl.handle.net/10138/353498
Autor:
Virva Hyttinen, Markus T. Sainio, Juho Aaltio, Henna Tyynismaa, Pentti J. Tienari, Emil Ylikallio, Simo Ojanen, Anders Paetau, Mika Kortelainen, Mari Auranen
Publikováno v:
Acta Neurologica Scandinavica. 145:63-72
Objectives Clinical diagnostics in adults with hereditary neurological diseases is complicated by clinical and genetic heterogeneity, as well as lifestyle effects. Here, we evaluate the effectiveness of exome sequencing and clinical costs in our diff