| Late onset spinal motor neuronopathy is caused by mutation in CHCHD10 S Penttilä, M Jokela, H Bouquin, AM Saukkonen, J Toivanen, B Udd Annals of neurology 77 (1), 163-172, 2015 | 109 | 2015 |
| Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases EC Genin, S Bannwarth, F Lespinasse, B Ortega-Vila, K Fragaki, K Itoh, ... Neurobiology of Disease 119, 159-171, 2018 | 54 | 2018 |
| Genotype–phenotype correlations in recessive titinopathies M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ... Genetics in Medicine 22 (12), 2029-2040, 2020 | 41 | 2020 |
| Botulinum toxin alleviates dysphagia of patients with inclusion body myositis A Schrey, L Airas, M Jokela, J Pulkkinen Journal of the neurological sciences 380, 142-147, 2017 | 35 | 2017 |
| Distinct muscle biopsy findings in genetically defined adult-onset motor neuron disorders M Jokela, S Huovinen, O Raheem, M Lindfors, J Palmio, S Penttilä, B Udd PloS one 11 (3), e0151376, 2016 | 34 | 2016 |
| CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency SJ Brockmann, A Freischmidt, P Oeckl, K Müller, SK Ponna, AM Helferich, ... Human molecular genetics 27 (4), 706-715, 2018 | 33 | 2018 |
| Mutations in the J domain of DNAJB6 cause dominant distal myopathy J Palmio, PH Jonson, M Inoue, J Sarparanta, R Bengoechea, M Savarese, ... Neuromuscular Disorders 30 (1), 38-46, 2020 | 31 | 2020 |
| Late-onset lower motor neuronopathy: a new autosomal dominant disorder M Jokela, S Penttilä, S Huovinen, P Hackman, AM Saukkonen, ... Neurology 77 (4), 334-340, 2011 | 28 | 2011 |
| Diagnostic Clinical, electrodiagnostic and muscle pathology features of spinal and bulbar muscular atrophy ME Jokela, B Udd Journal of Molecular Neuroscience 58, 330-334, 2016 | 26 | 2016 |
| Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy MA Waldrop, SA Moore, KD Mathews, BW Darbro, L Medne, R Finkel, ... Human mutation 43 (4), 511-528, 2022 | 22 | 2022 |
| CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients S Penttilä, M Jokela, AM Saukkonen, J Toivanen, J Palmio, J Lähdesmäki, ... Journal of Neurology, Neurosurgery & Psychiatry 88 (3), 272-277, 2017 | 22 | 2017 |
| Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation L Kuuluvainen, K Kaivola, S Mönkäre, H Laaksovirta, M Jokela, B Udd, ... Neurology: Genetics 5 (3), e335, 2019 | 21 | 2019 |
| Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy MT Sainio, S Välipakka, B Rinaldi, H Lapatto, A Paetau, S Ojanen, ... Journal of Neurology 266, 353-360, 2019 | 20 | 2019 |
| An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy M Jokela, G Tasca, A Vihola, E Mercuri, PH Jonson, S Lehtinen, ... Neurology 92 (14), e1600-e1609, 2019 | 19 | 2019 |
| Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial M Cudkowicz, A Genge, N Maragakis, S Petri, L van den Berg, VV Aho, ... The Lancet Neurology 20 (10), 821-831, 2021 | 18 | 2021 |
| Late-onset spinal motor neuronopathy–a common form of dominant SMA S Penttilä, M Jokela, S Huovinen, AM Saukkonen, J Toivanen, C Lindberg, ... Neuromuscular Disorders 24 (3), 259-268, 2014 | 15 | 2014 |
| Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11. 2-q13. 2 S Penttilä, M Jokela, P Hackman, A Maija Saukkonen, J Toivanen, B Udd European journal of human genetics 20 (11), 1193-1196, 2012 | 15 | 2012 |
| Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis M Johari, A Vihola, J Palmio, M Jokela, PH Jonson, J Sarparanta, ... Journal of Neurology 269 (8), 4161-4173, 2022 | 14 | 2022 |
| NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy N Ranu, J Laitila, HF Dugdale, J Mariano, JS Kolb, C Wallgren-Pettersson, ... Acta neuropathologica communications 10 (1), 185, 2022 | 13 | 2022 |
| A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy M Jokela, S Lehtinen, J Palmio, AM Saukkonen, S Huovinen, A Vihola, ... Journal of Neurology 266, 1649-1654, 2019 | 12 | 2019 |
