Lowered oxidative capacity in spinal muscular atrophy, Jokela type; comparison with mitochondrial muscle disease

por Ratia, Nadja, Palu, Edouard, Lantto, Hanna, Ylikallio, Emil, Luukkonen, Ritva, Suomalainen, Anu, Auranen, Mari, Piirilä, Päivi
Publicado 2023

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

por Auranen, Mari, Ylikallio, Emil, Shcherbii, Maria, Paetau, Anders, Kiuru-Enari, Sari, Toppila, Jussi P., Tyynismaa, Henna
Publicado 2015

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

por Sainio, Markus T., Ylikallio, Emil, Mäenpää, Laura, Lahtela, Jenni, Mattila, Pirkko, Auranen, Mari, Palmio, Johanna, Tyynismaa, Henna
Publicado 2018

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C

por Auranen, Mari, Toppila, Jussi, Suriyanarayanan, Saranya, Lone, Museer A., Paetau, Anders, Tyynismaa, Henna, Hornemann, Thorsten, Ylikallio, Emil
Publicado 2017

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

por Ylikallio, Emil, Page, Jennifer L., Xu, Xia, Lampinen, Milla, Bepler, Gerold, Ide, Tomomi, Tyynismaa, Henna, Weiss, Robert S., Suomalainen, Anu
Publicado 2010

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

por Ylikallio, Emil, Konovalova, Svetlana, Dhungana, Yogesh, Hilander, Taru, Junna, Nella, Partanen, Juhani V., Toppila, Jussi P., Auranen, Mari, Tyynismaa, Henna
Publicado 2015

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

por Palu, Edouard, Järvilehto, Julius, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Isohanni, Pirjo, Tyynismaa, Henna, Auranen, Mari, Ylikallio, Emil
Publicado 2023

The Overexpression of Twinkle Helicase Ameliorates the Progression of Cardiac Fibrosis and Heart Failure in Pressure Overload Model in Mice

por Tanaka, Atsushi, Ide, Tomomi, Fujino, Takeo, Onitsuka, Ken, Ikeda, Masataka, Takehara, Takako, Hata, Yuko, Ylikallio, Emil, Tyynismaa, Henna, Suomalainen, Anu, Sunagawa, Kenji
Publicado 2013

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

por Auranen, Mari, Palmio, Johanna, Ylikallio, Emil, Huovinen, Sanna, Paetau, Anders, Sandell, Satu, Haapasalo, Hannu, Viitaniemi, Kati, Piirilä, Päivi, Tyynismaa, Henna, Udd, Bjarne
Publicado 2015

Attitudes towards genetic testing and information: does parenthood shape the views?

por Saastamoinen, Antti, Hyttinen, Virva, Kortelainen, Mika, Aaltio, Juho, Auranen, Mari, Ylikallio, Emil, Lönnqvist, Tuula, Sainio, Markus, Suomalainen, Anu, Tyynismaa, Henna, Isohanni, Pirjo
Publicado 2020

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

por Sutinen, Aleksi, Nguyen, Giang Thi Tuyet, Raasakka, Arne, Muruganandam, Gopinath, Loris, Remy, Ylikallio, Emil, Tyynismaa, Henna, Bartesaghi, Luca, Ruskamo, Salla, Kursula, Petri
Publicado 2022

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

por Piirilä, Päivi, Similä, Minna E., Palmio, Johanna, Wuorimaa, Tomi, Ylikallio, Emil, Sandell, Satu, Haapalahti, Petri, Uotila, Lasse, Tyynismaa, Henna, Udd, Bjarne, Auranen, Mari
Publicado 2016

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

por 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
Publicado 2022

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

por Sainio, Markus T., Välipakka, Salla, Rinaldi, Bruno, Lapatto, Helena, Paetau, Anders, Ojanen, Simo, Brilhante, Virginia, Jokela, Manu, Huovinen, Sanna, Auranen, Mari, Palmio, Johanna, Friant, Sylvie, Ylikallio, Emil, Udd, Bjarne, Tyynismaa, Henna
Publicado 2018

Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

por Sainio, Markus T., Rasila, Tiina, Molchanova, Svetlana M., Järvilehto, Julius, Torregrosa-Muñumer, Rubén, Harjuhaahto, Sandra, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Zetterberg, Henrik, Taira, Tomi, Palmio, Johanna, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2022

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

por Cooper, Helen M., Yang, Yang, Ylikallio, Emil, Khairullin, Rafil, Woldegebriel, Rosa, Lin, Kai-Lan, Euro, Liliya, Palin, Eino, Wolf, Alexander, Trokovic, Ras, Isohanni, Pirjo, Kaakkola, Seppo, Auranen, Mari, Lönnqvist, Tuula, Wanrooij, Sjoerd, Tyynismaa, Henna
Publicado 2017

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

por Kenvin, Sebastian, Torregrosa-Muñumer, Ruben, Reidelbach, Marco, Pennonen, Jana, Turkia, Jeremi J, Rannila, Erika, Kvist, Jouni, Sainio, Markus T, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Auranen, Mari, Trokovic, Ras, Sharma, Vivek, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2021

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

por Rönkkö, Julius, Molchanova, Svetlana, Revah‐Politi, Anya, Pereira, Elaine M., Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet‐Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B., Tyynismaa, Henna, Ylikallio, Emil
Publicado 2020

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

por Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2020