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Cells
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April 30, 2021
Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex
Mark Sicking, Sven Lang, Florian Bochen, et al.
Scientific Reports
|
November 17, 2022
Quantitative muscle MRI captures early muscle degeneration in calpainopathy
Johannes Forsting, Marlena Rohm, Martijn Froeling, et al.
Oncotarget
|
October 6, 2017
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome
Laxmikanth Kollipara, Stephan Buchkremer, José Andrés González Coraspe, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2021
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
Andrea Gangfuß, Hanns Lochmüller, Ana Töpf, et al.
Journal of Proteome Research
|
January 20, 2016
Proteome Profiling and Ultrastructural Characterization of the Human RCMH Cell Line: Myoblastic Properties and Suitability for Myopathological Studies
Laxmikanth Kollipara, Stephan Buchkremer, Joachim Weis, et al.
Neurology. Genetics
|
May 17, 2017
Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.
Molecules (Basel, Switzerland)
|
November 9, 2024
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy
Cristina Manis, Mattia Casula, Andreas Roos, et al.
Human Molecular Genetics
|
August 29, 2025
Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice
Stephen Henry Holland, Ricardo Carmona-Martinez, Daniel O'Neil, et al.
Human Molecular Genetics
|
June 16, 2018
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, et al.
Orphanet Journal of Rare Diseases
|
July 28, 2025
Lessons learned from a muscle study in nail-patella syndrome
Luisa Paul, Anne Schänzer, Christel Depienne, et al.
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of 21
Search research articles
Search
Showing results (61-70 of 209) with videos related to
Sort By:
Page
of 21
Cells
|
April 30, 2021
Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex
Mark Sicking, Sven Lang, Florian Bochen, et al.
Scientific Reports
|
November 17, 2022
Quantitative muscle MRI captures early muscle degeneration in calpainopathy
Johannes Forsting, Marlena Rohm, Martijn Froeling, et al.
Oncotarget
|
October 6, 2017
In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome
Laxmikanth Kollipara, Stephan Buchkremer, José Andrés González Coraspe, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2021
A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
Andrea Gangfuß, Hanns Lochmüller, Ana Töpf, et al.
Journal of Proteome Research
|
January 20, 2016
Proteome Profiling and Ultrastructural Characterization of the Human RCMH Cell Line: Myoblastic Properties and Suitability for Myopathological Studies
Laxmikanth Kollipara, Stephan Buchkremer, Joachim Weis, et al.
Neurology. Genetics
|
May 17, 2017
Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.
Molecules (Basel, Switzerland)
|
November 9, 2024
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy
Cristina Manis, Mattia Casula, Andreas Roos, et al.
Human Molecular Genetics
|
August 29, 2025
Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice
Stephen Henry Holland, Ricardo Carmona-Martinez, Daniel O'Neil, et al.
Human Molecular Genetics
|
June 16, 2018
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, et al.
Orphanet Journal of Rare Diseases
|
July 28, 2025
Lessons learned from a muscle study in nail-patella syndrome
Luisa Paul, Anne Schänzer, Christel Depienne, et al.
Page
of 21