Manu Jokela
MD, PhD, neurologist
neuromuscular disorders
motor neuron diseases, myopathies, neurogenetics, neuromuscular disorders
- Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T (2025) Foley, A Reghan; Bolduc, Véronique; Guirguis, Fady; Donkervoort, Sandra; Hu, Ying; Orbach, Rotem; McCarty, Riley M; Sarathy, Apurva; Norato, Gina; Cummings, Beryl B; Lek, Monkol; Sarkozy, Anna; Butterfield, Russell J; Kirschner, Janbernd; Nascimento, Andrés; Natera-de Benito, Daniel; Quijano-Roy, Susana; Stojkovic, Tanya; Merlini, Luciano; Comi, Giacomo; Ryan, Monique; McDonald, Denise; Munot, Pinki; Yoon, Grace; Leung, Edward; Finanger, Erika; Leach, Meganne E; Collins, James; Tian, Cuixia; Mohassel, Payam; Neuhaus, Sarah B; Saade, Dimah; Cocanougher, Benjamin T; Chu, Mary-Lynn; Scavina, Mena; Grosmann, Carla; Richardson, Randal; Kossak, Brian D; Gospe, Sidney M; Bhise, Vikram; Taurina, Gita; Lace, Baiba; Troncoso, Monica; Shohat, Mordechai; Shalata, Adel; Chan, Sophelia H S; Jokela, Manu; Palmio, Johanna; Haliloğlu, Göknur; Jou, Cristina; Gartioux, Corine; Solomon-Degefa, Herimela; Freiburg, Carolin D; Schiavinato, Alvise; Zhou, Haiyan; Aguti, Sara; Nevo, Yoram; Nishino, Ichizo; Jimenez-Mallebrera, Cecilia; Lamandé, Shireen R; Allamand, Valérie; Gualandi, Francesca; Ferlini, Alessandra; MacArthur, Daniel G; Wilton, Steve D; Wagener, Raimund; Bertini, Enrico; Muntoni, Francesco; Bönnemann, Carsten G
- Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism (2025)
- Acta Neuropathologica Communications
Harjuhaahto, Sandra; Jokela, Manu; Rajendran, Jayasimman; Rokka, Minea; Hu, Bowen; Kvist, Jouni; Zhang, Fuping; Zárybnický, Tomáš; Haimilahti, Kimmo; Euro, Liliya; Pirinen, Eija; Huber, Nadine; Herukka, Sanna-Kaisa; Haapasalo, Annakaisa; Kuuluvainen, Emilia; Gopalakrishnan, Swetha; Katajisto, Pekka; Hietakangas, Ville; Burg, Thibaut; Van Den Bosch, Ludo; Huang, Xiaoping; Narendra, Derek P.; Kuure, Satu; Ylikallio, Emil; Tyynismaa, Henna
- Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia (2025)
- European Journal of Neurology
Periviita, Vesa; Männikkö, Roope; Jokela, Manu; Sud, Richa; Hanna, Michael G.; Udd, Bjarne; Palmio, Johanna
- CANVAS-oireyhtymä ja RFC1-tautikirjo (2024) Jokela, Manu; Kytövuori, Laura; Sipilä, Jussi
- Glykogenoosit (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Hermo-lihasliitoksen sairaudet (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Identical twins with statin-associated anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibody-positive autoimmune myopathy (2024)
- Scandinavian Journal of Rheumatology
Mali Markku, Pirilä Laura, Perander Linda, Gardberg Maria, Jokela Manu
- Kongenitaaliset myopatiat (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Lihasdystrofiat (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Mitokondriaaliset myopatiat (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Neurogeeniset lihassurkastumat (lihasatrofiat) (2024) Patologia Jokela, Manu; Huovinen, Sanna
- Neuromuskulaariset sairaudet (2024) Patologia Jokela, Manu; Huovinen, Sanna
- Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease (2024) Currò Riccardo, Dominik Natalia, Facchini Stefano, Vegezzi Elisa, Sullivan Roisin, Galassi Deforie Valentina, Fernández-Eulate Gorka, Traschütz Andreas, Rossi Salvatore, Garibaldi Matteo, Kwarciany Mariusz, Taroni Franco, Brusco Alfredo, Good Jean-Marc, Cavalcanti Francesca, Hammans Simon, Ravenscroft Gianina, Roxburgh Richard H; RFC1 repeat expansion study group, Parolin Schnekenberg Ricardo, Rugginini Bianca, Abati Elena, Manini Arianna, Quartesan Ilaria, Ghia Arianna, Lòpez de Munaìn Adolfo, Manganelli Fiore, Kennerson Marina, Santorelli Filippo Maria, Infante Jon, Marques Wilson, Jokela Manu, Murphy Sinéad M, Mandich Paola, Fabrizi Gian Maria, Briani Chiara, Gosal David, Pareyson Davide, Ferrari Alberto, Prados Ferran, Yousry Tarek, Khurana Vikram, Kuo Sheng-Han, Miller James, Troakes Claire, Jaunmuktane Zane, Giunti Paola, Hartmann Annette, Basak Nazli, Synofzik Matthis, Stojkovic Tanya, Hadjivassiliou Marios, Reilly Mary M, Houlden Henry, Cortese Andrea
- Taustatekijät vaikuttavat ALS-potilaiden saattohoitoon ja kuolinpaikkaan (2024) Siirala, Waltteri; Silvoniemi, Maria; Posti, Jussi P.; Löyttyniemi, Eliisa; Jokela, Manu; Akrén, Outi
- Toksiset myopatiat (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Tulehdukselliset myopatiat (2024) Patologia Huovinen, Sanna; Jokela, Manu
- Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia (2024) Wallgren-Pettersson Carina, Jokela Manu, Lehtokari Vilma-Lotta, Tyynismaa Henna, Sainio Markus T, Ylikallio Emil, Tynninen Olli, Pelin Katarina, Auranen Mari
- Adult motor neuron disease death rates in Finland 1998-2019 (2023) Sipilä Jussi O.T., Jokela Manu
- Amyotrophic Lateral Sclerosis in Southwestern and Eastern Finland (2023) Hanhisuanto Mirka, Solje Eino, Jokela Manu, Sipilä Jussi O. T.
- Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort (2023) de Bruyn A, Montagnese F, Holm-Yildiz S, Poulsen NS, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, ten Dam L, Gonzalez CD, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Lusakowska A, Nedkova V, Olive M, Alvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernandez-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG