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Tyynismaa, Henna
209  results:
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1

Advances and challenges in modeling inherited peripheral ne..:

Van Lent, Jonas ; Prior, Robert ; Pérez Siles, Gonzalo...
Experimental & Molecular Medicine.  56 (2024)  6 - p. 1348-1364 , 2024
Link: https://doi.org/10.1038/..
 
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2

Variants in tropomyosins TPM2 and TPM3 causing muscle hyper..:

Wallgren-Pettersson, Carina ; Jokela, Manu ; Lehtokari, Vilma-Lotta...
Neuromuscular Disorders.  35 (2024)  - p. 29-32 , 2024
Link: https://doi.org/10.1016/..
 
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3

Parents may prefer prognostic uncertainty about their child..:

Tyynismaa, Henna
Developmental Medicine & Child Neurology.  66 (2024)  7 - p. 828-829 , 2024
Link: https://doi.org/10.1111/..
 
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4

Rare PMP22 variants in mild to severe neuropathy uncorrelat..:

Palu, Edouard ; Järvilehto, Julius ; Pennonen, Jana...
neurogenetics.  24 (2023)  4 - p. 291-301 , 2023
Link: https://doi.org/10.1007/..
 
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5

Human IP3 receptor triple knockout stem cells remain plurip..:

Rönkkö, Julius ; Rodriguez, Yago ; Rasila, Tiina...
Cell Calcium.  114 (2023)  - p. 102782 , 2023
Link: https://doi.org/10.1016/..
 
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6

Disease models of mitochondrial aminoacyl‐tRNA synthetase d..:

Tyynismaa, Henna
Journal of Inherited Metabolic Disease.  46 (2023)  5 - p. 817-823 , 2023
Link: https://doi.org/10.1002/..
 
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7

Small mitochondrial protein NERCLIN regulates cardiolipin h..:

Konovalova, Svetlana ; Torregrosa-Muñumer, Rubén ; Manjunath, Pooja...
Proceedings of the National Academy of Sciences.  120 (2023)  30 - p. , 2023
Link: https://doi.org/10.1073/..
 
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8

Severe neonatal MEGDHEL syndrome with a homozygous truncati..:

Fellman, Vineta ; Banerjee, Rishi ; Lin, Kai-Lan...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1868 (2022)  1 - p. 166298 , 2022
Link: https://doi.org/10.1016/..
 
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9

The Finnish genetic heritage in 2022 – from diagnosis to tr..:

Uusimaa, Johanna ; Kettunen, Johannes ; Varilo, Teppo...
Disease Models & Mechanisms.  15 (2022)  10 - p. , 2022
Link: https://doi.org/10.1242/..
 
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10

Comparative whole-genome transcriptome analysis in renal ce..:

Kurtzeborn, Kristen ; Kwon, Hyuk Nam ; Iaroshenko, Vladislav...
BMC Biology.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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11

Neurofilament Light Regulates Axon Caliber, Synaptic Activi..:

Sainio, Markus T. ; Rasila, Tiina ; Molchanova, Svetlana M....
Frontiers in Cell and Developmental Biology.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

Metabolic determination of cell fate through selective inhe..:

Döhla, Julia ; Kuuluvainen, Emilia ; Gebert, Nadja...
Nature Cell Biology.  24 (2022)  2 - p. 148-154 , 2022
Link: https://doi.org/10.1038/..
 
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13

Structural insights into Charcot–Marie–Tooth disease‐linked..:

Sutinen, Aleksi ; Nguyen, Giang Thi Tuyet ; Raasakka, Arne...
FEBS Open Bio.  12 (2022)  7 - p. 1306-1324 , 2022
Link: https://doi.org/10.1002/..
 
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14

Serum Creatine, Not Neurofilament Light, Is Elevated in CHC..:

Järvilehto, Julius ; Harjuhaahto, Sandra ; Palu, Edouard...
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

Inter-organellar and systemic responses to impaired mitocho..:

Neupane, Nirajan ; Rajendran, Jayasimman ; Kvist, Jouni...
Communications Biology.  5 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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