Artikel dengan mandat akses publik - Henna TyynismaaPelajari lebih lanjut
Tidak tersedia di mana pun: 4
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy
JR Lee, M Srour, D Kim, FF Hamdan, SH Lim, C Brunel‐Guitton, ...
Human mutation 36 (1), 69-78, 2015
Mandat: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé …
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
CJ Carroll, P Isohanni, R Pöyhönen, L Euro, U Richter, V Brilhante, A Götz, ...
Journal of medical genetics 50 (3), 151-159, 2013
Mandat: US National Institutes of Health
Splicing defect in mitochondrial Seryl‐tRNA synthetase gene causes progressive spastic paresis instead of HUPRA syndrome
T Linnankivi, N Neupane, U Richter, P Isohanni, H Tyynismaa
Human mutation 37 (9), 884-888, 2016
Mandat: Academy of Finland
Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteome
S Konovalova, T Hilander, F Loayza-Puch, K Rooijers, R Agami, ...
The International Journal of Biochemistry & Cell Biology 65, 268-274, 2015
Mandat: Academy of Finland
Tersedia di suatu tempat: 56
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ...
The Lancet Neurology 10 (9), 806-818, 2011
Mandat: US National Institutes of Health
Mitochondrial DNA replication defects disturb cellular dNTP pools and remodel one-carbon metabolism
J Nikkanen, S Forsström, L Euro, I Paetau, RA Kohnz, L Wang, D Chilov, ...
Cell metabolism 23 (4), 635-648, 2016
Mandat: US National Institutes of Health, Academy of Finland, European Commission
Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks
JLO Pohjoismäki, S Goffart, H Tyynismaa, S Willcox, T Ide, D Kang, ...
Journal of Biological Chemistry 284 (32), 21446-21457, 2009
Mandat: US National Institutes of Health
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
H Tyynismaa, R Sun, S Ahola-Erkkilä, H Almusa, R Pöyhönen, M Korpela, ...
Human molecular genetics 21 (1), 66-75, 2012
Mandat: Swedish Research Council for Environment, Agricultural Sciences and Spatial …
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
HM Cooper, Y Yang, E Ylikallio, R Khairullin, R Woldegebriel, KL Lin, ...
Human molecular genetics 26 (8), 1432-1443, 2017
Mandat: Academy of Finland
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
E Ylikallio, R Pöyhönen, M Zimon, E De Vriendt, T Hilander, A Paetau, ...
Human molecular genetics 22 (15), 2975-2983, 2013
Mandat: Research Foundation (Flanders)
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
M Auranen, E Ylikallio, M Shcherbii, A Paetau, S Kiuru-Enari, JP Toppila, ...
Neurology: Genetics 1 (1), e1, 2015
Mandat: Academy of Finland
Metabolic determination of cell fate through selective inheritance of mitochondria
J Döhla, E Kuuluvainen, N Gebert, A Amaral, JI Englund, ...
Nature cell biology 24 (2), 148-154, 2022
Mandat: Academy of Finland, Knut and Alice Wallenberg Foundation, Swedish Research …
Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
A Lepelley, E Della Mina, E Van Nieuwenhove, L Waumans, S Fraitag, ...
Journal of Experimental Medicine 218 (10), e20201560, 2021
Mandat: Research Foundation (Flanders), National Institute for Health Research, UK …
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
L Euro, S Konovalova, J Asin-Cayuela, M Tulinius, H Griffin, R Horvath, ...
Frontiers in Genetics 6, 21, 2015
Mandat: Academy of Finland, UK Medical Research Council, National Institute for …
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate
AK Anttonen, T Hilander, T Linnankivi, P Isohanni, RL French, Y Liu, ...
Neurology 85 (4), 306-315, 2015
Mandat: US National Institutes of Health, Academy of Finland
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
EC Genin, S Bannwarth, F Lespinasse, B Ortega-Vila, K Fragaki, K Itoh, ...
Neurobiology of disease 119, 159-171, 2018
Mandat: US National Institutes of Health, National Institute of Health and Medical …
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
E Ylikallio, D Kim, P Isohanni, M Auranen, E Kim, T Lönnqvist, ...
European Journal of Human Genetics 23 (10), 1427-1430, 2015
Mandat: Academy of Finland
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
S Ahola, P Isohanni, L Euro, V Brilhante, A Palotie, H Pihko, T Lönnqvist, ...
Neurology 83 (8), 743-751, 2014
Mandat: Wellcome Trust
Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice
E Ylikallio, JL Page, X Xu, M Lampinen, G Bepler, T Ide, H Tyynismaa, ...
Nucleic acids research 38 (22), 8208-8218, 2010
Mandat: US National Institutes of Health
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, ...
Brain 140 (8), 2093-2103, 2017
Mandat: US National Institutes of Health, National Health and Medical Research …
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