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European Journal of Neurology
|
May 9, 2025
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia
Vesa Periviita, Roope Männikkö, Manu Jokela, et al.
Journal of Neurology
|
April 10, 2019
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Manu Jokela, Sara Lehtinen, Johanna Palmio, et al.
Neuromuscular Disorders : NMD
|
December 24, 2013
Late-onset spinal motor neuronopathy - a common form of dominant SMA
Sini 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 myositis
Mridul Johari, Anna Vihola, Johanna Palmio, et al.
Neuromuscular Disorders : NMD
|
January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Carina 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 nebulin
Lydia 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 Atrophy
Julius 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 patients
Sini 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 features
Milla 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 spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
European Journal of Neurology
|
May 9, 2025
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia
Vesa Periviita, Roope Männikkö, Manu Jokela, et al.
Journal of Neurology
|
April 10, 2019
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Manu Jokela, Sara Lehtinen, Johanna Palmio, et al.
Neuromuscular Disorders : NMD
|
December 24, 2013
Late-onset spinal motor neuronopathy - a common form of dominant SMA
Sini 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 myositis
Mridul Johari, Anna Vihola, Johanna Palmio, et al.
Neuromuscular Disorders : NMD
|
January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia
Carina 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 nebulin
Lydia 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 Atrophy
Julius 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 patients
Sini 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 features
Milla 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 spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, et al.
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of 5