Manu Jokela

Late onset spinal motor neuronopathy is caused by mutation in <scp><i>CHCHD</i></scp><i>10</i>

Sini Penttilä, Manu Jokela, Heidi Bouquin et al. · Annals of Neurology · 2014 · 120 citations

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse et al. · Neurobiology of Disease · 2018 · 79 citations · Full text

Genome Instability, Mitochondrial Damage, Micos Complex Integrity +10

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates et al. · Genetics in Medicine · 2020 · 74 citations · Full text

Genotype-phenotype Association, Genetics, Genotype–phenotype Correlations +3

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews et al. · Human Mutation · 2022 · 47 citations · Full text

Botulinum toxin alleviates dysphagia of patients with inclusion body myositis

A Schrey, Laura Airas, Manu Jokela et al. · Journal of the Neurological Sciences · 2017 · 40 citations

Autoimmune Disease, Allergy, Immunology +2