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

2 of 4

A retrospective study of accuracy and usefulness of electrophysiological exercise tests (2023)
- Journal of Neurology
Periviita Vesa, Jokela Manu, Palmio Johanna, Udd Bjarne
(A1 Refereed original research article in a scientific journal)
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype (2023)
- Neurology
Periviita Vesa, Palmio Johanna, Jokela Manu, Hartikainen Päivi, Vihola Anna, Rauramaa Tuomas, Udd Bjarne
(A1 Refereed original research article in a scientific journal)
Distal myopathy (2023) Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders Savarese Marco, Jokela Manu, Udd Bjarne
(A3 Refereed book chapter or chapter in a compilation book)
Myosiitit eli tulehdukselliset lihassairaudet (2023) Reumasairaudet Mali Markku, Jokela Manu
(D2 Article in a professional compilation book)
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum (2023)
- Journal of Medical Genetics
Di Feo Maria Francesca, Lillback Victoria, Jokela Manu, McEntagart Meriel, Homfray Tessa, Giorgio Elisa, Cavalchini Guido C Casalis, Brusco Alfredo, Iascone Maria, Spaccini Luigina, D'Oria Patrizia, Savarese Marco, Udd Bjarne
(A1 Refereed original research article in a scientific journal)
VP178 Multiomics needed to increase the detection rate of myopathy patients (2023)
- Neuromuscular Disorders
Owusu R, Johari M, Lehtinen S, Jokela M, Palmio J, Hackman P, Udd B, Savarese M
(Other publication)
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis (2022)
- Brain
Cabrera-Serrano Macarena, Caccavelli Laure, Savarese Marco, Vihola Anna, Jokela Manu, Johari Mridul, Capiod Thierry, Madrange Marine, Bugiardini Enrico, Brady Stefen, Quinlivan Rosaline, Merve Ashirwad, Scalco Renata, Hilton-Jones David, Houlden Henry, Aydin Halil Ibrahim, Ceylaner Serdar, Vockley Jerry, Taylor Rhonda L., Folland Chiara, Kelly Aasta, Goullee Hayley, Ylikallio Emil, Auranen Mari, Tyynismaa Henna, Udd Bjarne, Forrest Alistair R. R., Davis Mark R., Bratkovic Drago, Manton Nicholas, Robertson Thomas, McCombe Pamela, Laing Nigel G., Phillips Liza, de Lonlay Pascale, Ravenscroft Gianina
(A1 Refereed original research article in a scientific journal)
CANVAS - tasapainovaikeuksien ja kroonisen yskän mahdollinen aiheuttaja (2022)
- Duodecim
Jokela Manu, Martikainen Mika H, Lund-Aho Tiina, Palmio Johanna, Airas Laura, Hietaharju Aki, Kaasinen Valtteri
(D1 Article in a professional journal)
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis (2022)
- Journal of Neurology
Johari Mridul, Vihola Aanna, Palmio Johanna, Jokela Manu, Jonson Per Harald, Sarparanta Jaakko, Huovinen Sanna, Savarese Marco, Hackman Peter, Udd Bjarne
(A1 Refereed original research article in a scientific journal)
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy (2022)
- Human Mutation
Waldrop Megan A., Moore Steven A., Mathews Katherine D., Darbro Benjamin W., Medne Livja, Finkel Richard, Connolly Anne M., Crawford Thomas O., Drachman Daniel, Wein Nicolas, Habib Ali A., Krzesniak-Swinarska Monika A., Zaidman Craig M., Collins James J., Jokela Manu, Udd Bjarne, Day John W., Ortiz-Guerrero Gloria, Statland Jeff, Butterfield Russell J., Dunn Diane M., Weiss Robert B., Flanigan Kevin M.
(A1 Refereed original research article in a scientific journal)
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease (2022)
- Annals of Neurology
Jokela Manu, Karhu Jari, Nurminen Janne, Martikainen Mika H
(B1 Non-refereed article in a scientific journal)
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy (2022)
- Acta Neuropathologica Communications
Ranu Natasha, Laitila Jenni, Dugdale Hannah F., Mariano Jennifer, Kolb Justin S., Wallgren-Pettersson Carina, Witting Nanna, Vissing John, Vilchez Juan Jesus, Fiorillo Chiara, Zanoteli Edmar, Auranen Mari, Jokela Manu, Tasca Giorgio, Claeys Kristl G., Voermans Nicol C., Palmio Johanna, Huovinen Sanna, Moggio Maurizio, Beck Thomas Nyegaard, Kontrogianni-Konstantopoulos Aikaterini, Granzier Henk, Ochala Julien
(A1 Refereed original research article in a scientific journal)
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy (2022)
- Frontiers in Neurology
Järvilehto Julius, Harjuhaahto Sandra, Palu Edourad, Auranen Mari, Kvist Jouni, Zetterberg Henrik, Koskivuori Johanna, Lehtonen Marko, Saukkonen Anna Maija, Jokela Manu, Ylikallio Emil, Tyynismaa Henna
(A1 Refereed original research article in a scientific journal)
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin (2021)
- Neuromuscular 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 Neuropathologica
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)
- Neuromuscular Disorders
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)
- Journal of Neurology
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)
- Neurology
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)
- Journal of Neuromuscular Diseases
Jokela Manu, Baumann Peter, Huovinen Sanna, Penttilä Sini, Udd Bjarne
(B1 Non-refereed article in a scientific journal)