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

Life Sciences, Genetics, Neurology +17

Genotype–phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates et al. · Genetics in Medicine · 2020 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Life Sciences, Cell Biology, Molecular Biology +12

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 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Johanna Palmio, Per Harald Jonson, Michio Inoue et al. · Neuromuscular Disorders · 2019 · 41 citations · Full text

Life Sciences, Genetics, Molecular Biology +8