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Annals of Neurology
|
April 1, 2003
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
Christian Kubisch, Benedikt G H Schoser, Monika von Düring, et al.
Journal of Neurology
|
February 17, 2025
Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
Barry J Byrne, Benedikt Schoser, Priya S Kishnani, et al.
Journal of Neurology
|
December 6, 2023
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
Barry J Byrne, Benedikt Schoser, Priya S Kishnani, et al.
Brain : a Journal of Neurology
|
September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
Hannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.
Iscience
|
March 26, 2026
Mapping lung function in late-onset Pompe disease using label-free functional MRI
Lina Tan, Alexandra L Wagner, Rafael Heiss, et al.
Human Molecular Genetics
|
September 1, 2007
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Qiuping Zhang, Cornelia Bethmann, Nathalie F Worth, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Anna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, et al.
Der Nervenarzt
|
April 29, 2024
[Expert recommendations for magnetic resonance imaging of muscle disorders]
Rachel Zeng, Sarah Schlaeger, Matthias Türk, et al.
Radiologie (Heidelberg, Germany)
|
April 19, 2024
[Expert recommendations for magnetic resonance imaging of muscle disorders]
Rachel Zeng, Sarah Schlaeger, Matthias Türk, et al.
Brain : a Journal of Neurology
|
September 11, 2012
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
Rudolf A Kley, Piraye Serdaroglu-Oflazer, Yvonne Leber, et al.
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of 14
Search research articles
Search
Showing results (121-130 of 140) with videos related to
Sort By:
Page
of 14
Annals of Neurology
|
April 1, 2003
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
Christian Kubisch, Benedikt G H Schoser, Monika von Düring, et al.
Journal of Neurology
|
February 17, 2025
Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
Barry J Byrne, Benedikt Schoser, Priya S Kishnani, et al.
Journal of Neurology
|
December 6, 2023
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
Barry J Byrne, Benedikt Schoser, Priya S Kishnani, et al.
Brain : a Journal of Neurology
|
September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy
Hannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.
Iscience
|
March 26, 2026
Mapping lung function in late-onset Pompe disease using label-free functional MRI
Lina Tan, Alexandra L Wagner, Rafael Heiss, et al.
Human Molecular Genetics
|
September 1, 2007
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
Qiuping Zhang, Cornelia Bethmann, Nathalie F Worth, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Anna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, et al.
Der Nervenarzt
|
April 29, 2024
[Expert recommendations for magnetic resonance imaging of muscle disorders]
Rachel Zeng, Sarah Schlaeger, Matthias Türk, et al.
Radiologie (Heidelberg, Germany)
|
April 19, 2024
[Expert recommendations for magnetic resonance imaging of muscle disorders]
Rachel Zeng, Sarah Schlaeger, Matthias Türk, et al.
Brain : a Journal of Neurology
|
September 11, 2012
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
Rudolf A Kley, Piraye Serdaroglu-Oflazer, Yvonne Leber, et al.
Page
of 14