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Kate Bushby

Showing results (111-120 of 151) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Plos One|August 23, 2013
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.
Plos One|March 4, 2014
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.
The Lancet. Neurology|June 16, 2016
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophyVolker Straub, Pavel Balabanov, Kate Bushby, 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.
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.
Annals of Neurology|December 19, 2003
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Katja Grohmann, Raymonda Varon, Piroschka Stolz, 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.
The Lancet. Neurology|August 29, 2009
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyMaria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
Pageof 16

Showing results (111-120 of 151) with videos related to

Sort By:
Pageof 16
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Plos One|August 23, 2013
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.
Plos One|March 4, 2014
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.
The Lancet. Neurology|June 16, 2016
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophyVolker Straub, Pavel Balabanov, Kate Bushby, 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.
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.
Annals of Neurology|December 19, 2003
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Katja Grohmann, Raymonda Varon, Piroschka Stolz, 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.
The Lancet. Neurology|August 29, 2009
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyMaria Kinali, Virginia Arechavala-Gomeza, Lucy Feng, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
Pageof 16