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Journal of Neuromuscular Diseases
|
November 18, 2016
Increasing Role of Titin Mutations in Neuromuscular Disorders
Marco Savarese, Jaakko Sarparanta, Anna Vihola, et al.
Neurology
|
September 7, 2023
<i>CACNA1S</i> Variant Associated With a Myalgic Myopathy Phenotype
Vesa Periviita, Johanna Palmio, 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.
Neurology. Genetics
|
June 14, 2019
Novel mutation in <i>TNPO3</i> causes congenital limb-girdle myopathy with slow progression
Anna Vihola, Johanna Palmio, Olof Danielsson, et al.
Journal of Cell Science
|
May 15, 2008
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies
Atsushi Fukuzawa, Stephan Lange, Mark Holt, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
January 18, 2021
Panorama of the distal myopathies
Marco Savarese, Jaakko Sarparanta, Anna Vihola, et al.
Neurology. Genetics
|
October 8, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule
Kristl G Claeys, Marco Savarese, Per Harald Jonson, et al.
Journal of the Neurological Sciences
|
March 17, 2015
Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis
Ron Dabby, Menachem Sadeh, David Hilton-Jones, et al.
Neuromuscular Disorders : NMD
|
June 24, 2006
Myotilinopathy in a family with late onset myopathy
Isabelle Pénisson-Besnier, Kati Talvinen, Catherine Dumez, et al.
Neurology. Genetics
|
August 13, 2019
New family with <i>HSPB</i>8-associated autosomal dominant rimmed vacuolar myopathy
Sejad Al-Tahan, Lan Weiss, Howard Yu, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 50) with videos related to
Sort By:
Page
of 5
Journal of Neuromuscular Diseases
|
November 18, 2016
Increasing Role of Titin Mutations in Neuromuscular Disorders
Marco Savarese, Jaakko Sarparanta, Anna Vihola, et al.
Neurology
|
September 7, 2023
<i>CACNA1S</i> Variant Associated With a Myalgic Myopathy Phenotype
Vesa Periviita, Johanna Palmio, 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.
Neurology. Genetics
|
June 14, 2019
Novel mutation in <i>TNPO3</i> causes congenital limb-girdle myopathy with slow progression
Anna Vihola, Johanna Palmio, Olof Danielsson, et al.
Journal of Cell Science
|
May 15, 2008
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies
Atsushi Fukuzawa, Stephan Lange, Mark Holt, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
January 18, 2021
Panorama of the distal myopathies
Marco Savarese, Jaakko Sarparanta, Anna Vihola, et al.
Neurology. Genetics
|
October 8, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule
Kristl G Claeys, Marco Savarese, Per Harald Jonson, et al.
Journal of the Neurological Sciences
|
March 17, 2015
Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis
Ron Dabby, Menachem Sadeh, David Hilton-Jones, et al.
Neuromuscular Disorders : NMD
|
June 24, 2006
Myotilinopathy in a family with late onset myopathy
Isabelle Pénisson-Besnier, Kati Talvinen, Catherine Dumez, et al.
Neurology. Genetics
|
August 13, 2019
New family with <i>HSPB</i>8-associated autosomal dominant rimmed vacuolar myopathy
Sejad Al-Tahan, Lan Weiss, Howard Yu, et al.
Page
of 5