Henna Tyynismaa
Helsingin yliopisto
H-index: 39
Europe-Finland
Top articles of Henna Tyynismaa
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia | Neuromuscular Disorders | Carina Wallgren-Pettersson Manu Jokela Vilma-Lotta Lehtokari Henna Tyynismaa Markus T Sainio | 2024/2/1 |
Parents may prefer prognostic uncertainty about their child's genetic neurodevelopmental condition | Developmental Medicine & Child Neurology | Henna Tyynismaa | 2024/1/12 |
Disease models of mitochondrial aminoacyl‐tRNA synthetase defects | Henna Tyynismaa | 2023/9 | |
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure | Proceedings of the National Academy of Sciences | Svetlana Konovalova Rubén Torregrosa-Muñumer Pooja Manjunath Xiaonan Liu Sundar Baral | 2023/7/25 |
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light | neurogenetics | Edouard Palu Julius Järvilehto Jana Pennonen Nadine Huber Sanna-Kaisa Herukka | 2023/10 |
Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism | Cell Calcium | Julius Rönkkö Yago Rodriguez Tiina Rasila Ruben Torregrosa-Munumer Jana Pennonen | 2023/9/1 |
Metabolic determination of cell fate through selective inheritance of mitochondria | Nature cell biology | Julia Döhla Emilia Kuuluvainen Nadja Gebert Ana Amaral Johanna I Englund | 2022/2 |
Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1 | FEBS open bio | Aleksi Sutinen Giang Thi Tuyet Nguyen Arne Raasakka Gopinath Muruganandam Remy Loris | 2022/7 |
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 | Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease | Vineta Fellman Rishi Banerjee Kai-Lan Lin Ilari Pulli Helen Cooper | 2022/1/1 |
Comparative whole-genome transcriptome analysis in renal cell populations reveals high tissue specificity of MAPK/ERK targets in embryonic kidney | BMC biology | Kristen Kurtzeborn Hyuk Nam Kwon Vladislav Iaroshenko Imrul Faisal Martin Ambrož | 2022/5/13 |
Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders | Acta Neurologica Scandinavica | Markus T Sainio Juho Aaltio Virva Hyttinen Mika Kortelainen Simo Ojanen | 2022/1 |
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism | Human Molecular Genetics | Sebastian Kenvin Ruben Torregrosa-Muñumer Marco Reidelbach Jana Pennonen Jeremi J Turkia | 2022/3/15 |
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis | Brain | Macarena Cabrera-Serrano Laure Caccavelli Marco Savarese Anna Vihola Manu Jokela | 2022/11/1 |
Serum creatine, not neurofilament light, is elevated in CHCHD10-linked spinal muscular atrophy | Frontiers in neurology | Julius Järvilehto Sandra Harjuhaahto Edouard Palu Mari Auranen Jouni Kvist | 2022/2/17 |
Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscle | Communications Biology | Nirajan Neupane Jayasimman Rajendran Jouni Kvist Sandra Harjuhaahto Bowen Hu | 2022/10/5 |
Neurofilament light regulates axon caliber, synaptic activity, and organelle trafficking in cultured human motor neurons | Frontiers in cell and developmental biology | Markus T Sainio Tiina Rasila Svetlana M Molchanova Julius Järvilehto Rubén Torregrosa-Muñumer | 2022/2/14 |
The Finnish genetic heritage in 2022–from diagnosis to translational research | Johanna Uusimaa Johannes Kettunen Teppo Varilo Irma Järvelä Jukka Kallijärvi | 2022/10/1 | |
Metabolic and muscle-derived serum biomarkers define CHCHD10-linked late-onset spinal muscular atrophy | medRxiv | Julius Järvilehto Sandra Harjuhaahto Edouard Palu Mari Auranen Jouni Kvist | 2021/4/9 |
Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A | Journal of Experimental Medicine | Alice Lepelley Erika Della Mina Erika Van Nieuwenhove Lise Waumans Sylvie Fraitag | 2021/8/13 |
Peripheral neuropathy linked mRNA export factor GANP reshapes gene regulation in human motor neurons | bioRxiv | Rosa Woldegebriel Jouni Kvist Matthew White Matilda Sinkko Satu Hänninen | 2021/5/18 |
