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Manu Jokela

Showing results (21-30 of 47) with videos related to

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European Journal of Neurology|May 9, 2025
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or ParamyotoniaVesa Periviita, Roope Männikkö, Manu Jokela, et al.
Journal of Neurology|April 10, 2019
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophyManu Jokela, Sara Lehtinen, Johanna Palmio, et al.
Neuromuscular Disorders : NMD|December 24, 2013
Late-onset spinal motor neuronopathy - a common form of dominant SMASini Penttilä, Manu Jokela, Sanna Huovinen, et al.
Journal of Neurology|March 3, 2022
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositisMridul Johari, Anna Vihola, Johanna Palmio, et al.
Neuromuscular Disorders : NMD|January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertoniaCarina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
Frontiers in Neurology|March 7, 2022
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular AtrophyJulius Järvilehto, Sandra Harjuhaahto, Edouard Palu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 5, 2016
<i>CHCHD10</i> mutations and motor neuron disease: the distribution in Finnish patientsSini Penttilä, Manu Jokela, Anna Maija Saukkonen, et al.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Journal of Medical Genetics|March 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrumMaria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
European Journal of Neurology|May 9, 2025
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or ParamyotoniaVesa Periviita, Roope Männikkö, Manu Jokela, et al.
Journal of Neurology|April 10, 2019
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophyManu Jokela, Sara Lehtinen, Johanna Palmio, et al.
Neuromuscular Disorders : NMD|December 24, 2013
Late-onset spinal motor neuronopathy - a common form of dominant SMASini Penttilä, Manu Jokela, Sanna Huovinen, et al.
Journal of Neurology|March 3, 2022
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositisMridul Johari, Anna Vihola, Johanna Palmio, et al.
Neuromuscular Disorders : NMD|January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertoniaCarina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.
Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
Frontiers in Neurology|March 7, 2022
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular AtrophyJulius Järvilehto, Sandra Harjuhaahto, Edouard Palu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 5, 2016
<i>CHCHD10</i> mutations and motor neuron disease: the distribution in Finnish patientsSini Penttilä, Manu Jokela, Anna Maija Saukkonen, et al.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Journal of Medical Genetics|March 28, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrumMaria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
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