Zobrazeno 1 - 10
of 2 472
pro vyhledávání: '"H Martikainen"'
Autor:
Kari Majamaa, Mika H Martikainen
Publikováno v:
BMJ Neurology Open, Vol 6, Iss 1 (2024)
Background Mitochondrial diseases are common inherited metabolic disorders. Due to improved case ascertainment and diagnosis methods, the detection of new diagnoses of mitochondrial disease can be expected to increase. In December 2009, the prevalenc
Externí odkaz:
https://doaj.org/article/04957cb977f44a208e0a48330c92e08d
Publikováno v:
Case Reports in Neurological Medicine, Vol 2024 (2024)
Infantile dystonia-parkinsonism type 2 (PKDYS2) is a rare inherited autosomal recessive movement disorder with onset in infancy. The disease is associated with a mutation in the solute carrier family 18 member A2 gene (SLC18A2). There are reports of
Externí odkaz:
https://doaj.org/article/5bfc8d0566df465ca8b67a42e9d66d80
Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-4 (2022)
Abstract Background Leber’s hereditary optic neuropathy (LHON) is a common form of mitochondrial disease. The typical clinical presentation of LHON is subacute, painless loss of vision resulting from bilateral optic nerve atrophy. Moreover, extra-o
Externí odkaz:
https://doaj.org/article/5a69fbe522624eadacf24a320d14e5f9
Autor:
C. S. Gallagher, N. Mäkinen, H. R. Harris, N. Rahmioglu, O. Uimari, J. P. Cook, N. Shigesi, T. Ferreira, D. R. Velez-Edwards, T. L. Edwards, S. Mortlock, Z. Ruhioglu, F. Day, C. M. Becker, V. Karhunen, H. Martikainen, M.-R. Järvelin, R. M. Cantor, P. M. Ridker, K. L. Terry, J. E. Buring, S. D. Gordon, S. E. Medland, G. W. Montgomery, D. R. Nyholt, D. A. Hinds, J. Y. Tung, the 23andMe Research Team, J. R. B. Perry, P. A. Lind, J. N. Painter, N. G. Martin, A. P. Morris, D. I. Chasman, S. A. Missmer, K. T. Zondervan, C. C. Morton
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-2 (2022)
Externí odkaz:
https://doaj.org/article/0c4b62618c4b49c594faae5d08fef721
Autor:
C. S. Gallagher, N. Mäkinen, H. R. Harris, N. Rahmioglu, O. Uimari, J. P. Cook, N. Shigesi, T. Ferreira, D. R. Velez-Edwards, T. L. Edwards, S. Mortlock, Z. Ruhioglu, F. Day, C. M. Becker, V. Karhunen, H. Martikainen, M.-R. Järvelin, R. M. Cantor, P. M. Ridker, K. L. Terry, J. E. Buring, S. D. Gordon, S. E. Medland, G. W. Montgomery, D. R. Nyholt, D. A. Hinds, J. Y. Tung, the 23andMe Research Team, J. R. B. Perry, P. A. Lind, J. N. Painter, N. G. Martin, A. P. Morris, D. I. Chasman, S. A. Missmer, K. T. Zondervan, C. C. Morton
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Uterine leiomyomata (UL) or fibroids are neoplasms of the uterine smooth muscle associated with heavy menstrual bleeding and other female reproductive tract morbidity. Here, the authors identify eight previously undescribed genetic loci for UL and fu
Externí odkaz:
https://doaj.org/article/d1a4318550c6403d984ad10ede4120c7
Publikováno v:
Gerontologia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751213672feebdd1f00e5f7654e061e8
https://journal.fi/gerontologia/article/view/125865
https://journal.fi/gerontologia/article/view/125865
Autor:
Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull
Publikováno v:
Wellcome Open Research, Vol 4 (2019)
Background: Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute tre
Externí odkaz:
https://doaj.org/article/25b451bec90b4c3ab265f9e6984ed32a
Publikováno v:
H: Clinical care and clinical services.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47513cf0778c49f675d8d9009a40865c
https://doi.org/10.1136/jnnp-2022-ehdn.165
https://doi.org/10.1136/jnnp-2022-ehdn.165
Publikováno v:
Human reproduction (Oxford, England). 37(12)
STUDY QUESTION Is the health of singletons born after frozen embryo transfer (FET) comparable to that of singletons born after fresh embryo transfer (ET) until early adulthood? SUMMARY ANSWER The health of singletons born after FET does not differ fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db446963c9d85fb5cafd748e63ff92b4
https://pubmed.ncbi.nlm.nih.gov/36166701
https://pubmed.ncbi.nlm.nih.gov/36166701
Autor:
Mika H. Martikainen, Laura Kytövuori, Kari Majamaa, Sirkka Keinänen-Kiukaanniemi, Juhani Junttila, Heikki V. Huikuri
Publikováno v:
International Journal of Legal Medicine
Cardiomyopathy and cardiac conduction defects are common manifestations of mitochondrial disease. Previous studies suggest that clinically asymptomatic individuals harbouring pathogenic mitochondrial DNA (mtDNA) mutations in the cardiac muscle may ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f35e220784939991f4d5f62e373b81d
http://europepmc.org/articles/PMC6949201
http://europepmc.org/articles/PMC6949201