Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Manu Jokela

Showing results (31-40 of 47) with videos related to

Pageof 5
Sort By:
Journal of Neurology|December 6, 2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophyMarkus T Sainio, Salla Välipakka, Bruno Rinaldi, et al.
Neurology. Genetics|May 16, 2019
Oligogenic basis of sporadic ALS: The example of <i>SOD1</i> p.Ala90Val mutationLiina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Human Molecular Genetics|January 10, 2018
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiencySarah J Brockmann, Axel Freischmidt, Patrick Oeckl, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Acta Neuropathologica Communications|May 21, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolismSandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, et al.
Acta Neuropathologica Communications|December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyNatasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.
Scientific Reports|April 14, 2026
Speech-based digital endpoints track ALS progression and align with standard clinical outcomes: evidence from the VRG50635 trialMichael Neumann, Hardik Kothare, Meredith Bartlett, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Journal of Neurology|December 6, 2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophyMarkus T Sainio, Salla Välipakka, Bruno Rinaldi, et al.
Neurology. Genetics|May 16, 2019
Oligogenic basis of sporadic ALS: The example of <i>SOD1</i> p.Ala90Val mutationLiina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Human Molecular Genetics|January 10, 2018
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiencySarah J Brockmann, Axel Freischmidt, Patrick Oeckl, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Acta Neuropathologica Communications|May 21, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolismSandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, et al.
Acta Neuropathologica Communications|December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyNatasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.
Scientific Reports|April 14, 2026
Speech-based digital endpoints track ALS progression and align with standard clinical outcomes: evidence from the VRG50635 trialMichael Neumann, Hardik Kothare, Meredith Bartlett, et al.
Pageof 5