Manu Jokela
MD, PhD, neurologist
neuromuscular disorders
motor neuron diseases, myopathies, neurogenetics, neuromuscular disorders
- A retrospective study of accuracy and usefulness of electrophysiological exercise tests (2023) Periviita Vesa, Jokela Manu, Palmio Johanna, Udd Bjarne
- CACNA1S Variant Associated With a Myalgic Myopathy Phenotype (2023) Periviita Vesa, Palmio Johanna, Jokela Manu, Hartikainen Päivi, Vihola Anna, Rauramaa Tuomas, Udd Bjarne
- Distal myopathy (2023) Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders Savarese Marco, Jokela Manu, Udd Bjarne
- Myosiitit eli tulehdukselliset lihassairaudet (2023) Reumasairaudet Mali Markku, Jokela Manu
- 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
- VP178 Multiomics needed to increase the detection rate of myopathy patients (2023) Owusu R, Johari M, Lehtinen S, Jokela M, Palmio J, Hackman P, Udd B, Savarese M
- Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis (2022) 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
- CANVAS - tasapainovaikeuksien ja kroonisen yskän mahdollinen aiheuttaja (2022) Jokela Manu, Martikainen Mika H, Lund-Aho Tiina, Palmio Johanna, Airas Laura, Hietaharju Aki, Kaasinen Valtteri
- Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis (2022) Johari Mridul, Vihola Aanna, Palmio Johanna, Jokela Manu, Jonson Per Harald, Sarparanta Jaakko, Huovinen Sanna, Savarese Marco, Hackman Peter, Udd Bjarne
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy (2022) 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.
- Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease (2022) Jokela Manu, Karhu Jari, Nurminen Janne, Martikainen Mika H
- 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
- Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy (2022) 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
- Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin (2021) Sagath Lydia, Lehtokari Vilma-Lotta, Välipakka Salla, Vihola Anna, Gardberg Maria, Hackman Peter, Pelin Katarina, Jokela Manu, Kiiski Kirsi, Udd Bjarne, Wallgren-Pettersson Carina
- Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions (2021) 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
- Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness (2021) 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
- 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
- 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
- An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy (2019) 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.
- 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
