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Volker Straub

Showing results (261-270 of 374) with videos related to

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EMBO Molecular Medicine|June 13, 2014
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophiesBurcu Ayoglu, Amina Chaouch, Hanns Lochmüller, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
European Journal of Neurology|April 1, 2024
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoidsMarianela Schiava, Robert Muni Lofra, John P Bourke, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Molecular Genetics and Metabolism|July 31, 2016
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY StudyAns van der Ploeg, Pierre G Carlier, Robert-Yves Carlier, et al.
European Journal of Neurology|March 3, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort studyMartin Krenn, Matthias Tomschik, Matias Wagner, et al.
Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.
Pageof 38

Showing results (261-270 of 374) with videos related to

Sort By:
Pageof 38
EMBO Molecular Medicine|June 13, 2014
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophiesBurcu Ayoglu, Amina Chaouch, Hanns Lochmüller, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
European Journal of Neurology|April 1, 2024
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoidsMarianela Schiava, Robert Muni Lofra, John P Bourke, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Molecular Genetics and Metabolism|July 31, 2016
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY StudyAns van der Ploeg, Pierre G Carlier, Robert-Yves Carlier, et al.
European Journal of Neurology|March 3, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort studyMartin Krenn, Matthias Tomschik, Matias Wagner, et al.
Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.
Pageof 38