MD, PhD, neurologist Manu Jokela - UTU Research Portal

Manu Jokela
MD, PhD, neurologist

- Docent,
Faculty of Medicine (University of Turku)

mejoke@utu.fi

Areas of expertise

neuromuscular disorders

Research

motor neuron diseases, myopathies, neurogenetics, neuromuscular disorders

Publications

5 of 7

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin (2021)
- Neuromuscular DisordersNeuromuscular Disorders
Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Vihola Anna, Gardberg Maria, Hackman Peter, Pelin Katarina, Jokela Manu, Kiiski Kirsi, Udd Bjarne, Wallgren-Pettersson Carina
(A1 Refereed original research article in a scientific journal)
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions (2021)
- Acta NeuropathologicaJournal of Neurology
Johari Mridul, Sarparanta Jaakko, Vihola Anna, Jonson Per Harald, Savarese Marco, Jokela Manu, Torella Annalaura, Piluso Giulio, Said Edith, Vella Nrbert, Cauchi Marija, Magot Armelle, Magri Francesca, Mauri Eleonora, Kornblum Cornelia, Reimann Jens, Stojkovic Tanya, Romero Norma B., Luque Helena, Huovinen Sanna, Lahermo Päivi, Donner Kati, Comi Giacomo Pietro, Nigro Vincenzo, Hackman Peter, Udd Bjarne
(A1 Refereed original research article in a scientific journal)
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness (2021)
- Neurology-Genetics
Savarese Marco, Vihola Anna, Jokela Manu E, Huovinen Sanna Pauliina, Gerevini Simonetta, Torella Annalaura, Johari Mridul, Scarlato Marina, Jonson Per Harald, Onore Maria Elena, Hackman Peter, Gautel Mathias, Nigro Vincenzo, Previtali Stefano Carlo, Udd Bjarne
(A1 Refereed original research article in a scientific journal)
Mutations in the J domain of DNAJB6 cause dominant distal myopathy (2020)
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olive M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B, Udd B
(A1 Refereed original research article in a scientific journal)
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy (2019)
Manu Jokela, Sara Lehtinen, Johanna Palmio, Anna-Maija Saukkonen, Sanna Huovinen, Anna Vihola, Bjarne Udd
(A1 Refereed original research article in a scientific journal)
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy (2019)
- NeurologyJournal of Neuromuscular Diseases
Jokela M., Tasca G., Vihola A., Mercuri E., Jonson P., Lehtinen S., Välipakka S., Pane M., Donati M., Johari M., Savarese M., Huovinen S., Isohanni P., Palmio J., Hartikainen P., Udd B.
(A1 Refereed original research article in a scientific journal)
Homozygous Nonsense Mutation pQ274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy (2019)
Jokela Manu, Baumann Peter, Huovinen Sanna, Penttilä Sini, Udd Bjarne
(B1 Non-refereed article in a scientific journal)
Oligogenic basis of sporadic ALS The example of SOD1 p.Ala90Val mutation (2019)
- Neurology-Genetics
Liina Kuuluvainen, Karri Kaivola, Saana Mönkäre, Hannu Laaksovirta, Manu Jokela, Bjarne Udd, Miko Valori, Petra Pasanen, Anders Paetau, Bryan J. Traynor, David J. Stone, Johanna Schleutker, Minna Pöyhönen, Pentti J. Tienari, Liisa Myllykangas
(A1 Refereed original research article in a scientific journal)
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy (2019)
- Journal of Neurology
Markus T. Sainio, Salla Välipakka, Bruno Rinaldi, Helena Lapatto, Anders Paetau, Simo Ojanen, Virginia Brilhante, Manu Jokela, Sanna Huovinen, Mari Auranen, Johanna Palmio, Sylvie Friant, Emil Ylikallio, Bjarne Udd, Henna Tyynismaa
(A1 Refereed original research article in a scientific journal)
Särö-X-esimutaatio-oireyhtymä (FXTAS) - magneettikuvauksesta apua diagnosointiin (2019)
- Duodecim
Jokela M, Hietala M, Karhu J, Martikainen MH, Kaasinen V
(D1 Article in a professional journal)