Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)

por Similä, Minna E., Auranen, Mari, Piirilä, Päivi Liisa
Publicado 2020

Focal atrophy of the unilateral masticatory muscles caused by pure trigeminal motor neuropathy: case report

por Kämppi, Antti, Kämppi, Leena, Kemppainen, Pentti, Kanerva, Mari, Toppila, Jussi, Auranen, Mari
Publicado 2018

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

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder

por Kuukasjärvi, Anna, Landoni, Juan C., Kaukonen, Jyrki, Juhakoski, Mika, Auranen, Mari, Torkkeli, Tommi, Velagapudi, Vidya, Suomalainen, Anu
Publicado 2021

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

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia

por Kelly, John J., Esseltine, Jessica L., Shao, Qing, Jabs, Ethylin Wang, Sampson, Jacinda, Auranen, Mari, Bai, Donglin, Laird, Dale W.
Publicado 2016

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

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

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

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

por Khan, Nahid A, Auranen, Mari, Paetau, Ilse, Pirinen, Eija, Euro, Liliya, Forsström, Saara, Pasila, Lotta, Velagapudi, Vidya, Carroll, Christopher J, Auwerx, Johan, Suomalainen, Anu
Publicado 2014

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

Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients

por Ahola, Sofia, Auranen, Mari, Isohanni, Pirjo, Niemisalo, Satu, Urho, Niina, Buzkova, Jana, Velagapudi, Vidya, Lundbom, Nina, Hakkarainen, Antti, Muurinen, Tiina, Piirilä, Päivi, Pietiläinen, Kirsi H, Suomalainen, Anu
Publicado 2016

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

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

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

por Hackman, Peter, Rusanen, Salla M., Johari, Mridul, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, Donner, Kati, Lahermo, Päivi, Koivunen, Sampo, Luque, Helena, Soininen, Merja, Mahjneh, Ibrahim, Auranen, Mari, Arumilli, Meharji, Savarese, Marco, Udd, Bjarne
Publicado 2021

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