"Kvist, Jouni" - Selaus tekijän mukaan TUNICRIS-julkaisut

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    • Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism 

      Harjuhaahto, Sandra; Jokela, Manu; Rajendran, Jayasimman; Rokka, Minea; Hu, Bowen; Kvist, Jouni; Zhang, Fuping; Zárybnický, Tomáš; Haimilahti, Kimmo; Euro, Liliya; Pirinen, Eija; Huber, Nadine; Herukka, Sanna Kaisa; Haapasalo, Annakaisa; Kuuluvainen, Emilia; Gopalakrishnan, Swetha; Katajisto, Pekka; Hietakangas, Ville; Burg, Thibaut; Van Den Bosch, Ludo; Huang, Xiaoping; Narendra, Derek P.; Kuure, Satu; Ylikallio, Emil; Tyynismaa, Henna (2025)
      article
      Dominant defects in CHCHD10, a mitochondrial intermembrane space protein, lead to a range of neurological and muscle disease phenotypes including amyotrophic lateral sclerosis. Many patients present with spinal muscular ...

    • Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy 

      Järvilehto, Julius; Harjuhaahto, Sandra; Palu, Edouard; Auranen, Mari; Kvist, Jouni; Zetterberg, Henrik; Koskivuori, Johanna; Lehtonen, Marko; Saukkonen, Anna Maija; Jokela, Manu; Ylikallio, Emil; Tyynismaa, Henna (17.02.2022)
      article
      <p>Objective: To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms. Methods: We collected ...