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T Darras

Showing results (191-200 of 303) with videos related to

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Muscle & Nerve|June 18, 2014
Reply: To PMID 23893312Peter B Kang, Clifton L Gooch, Michael P McDermott, et al.
Neurology. Genetics|May 2, 2019
Homozygous <i>TRPV4</i> mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.
Annals of Biomedical Engineering|May 22, 2026
Multifrequency Electrical Impedance Myography Enhanced with Machine Learning for Screening Patients with Neuromuscular DisordersBuket Sonbas-Cobb, Seward B Rutkove, Baoguo Wei, et al.
Muscle & Nerve|July 30, 2013
The motor neuron response to SMN1 deficiency in spinal muscular atrophyPeter B Kang, Clifton L Gooch, Michael P McDermott, et al.
Muscle & Nerve|September 27, 2016
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathyPaulomi Mehta, Melanie Küspert, Tejus Bale, et al.
Journal of Neuromuscular Diseases|July 17, 2023
Identifying Biomarkers of Spinal Muscular Atrophy for Further DevelopmentJacqueline Glascock, Basil T Darras, Thomas O Crawford, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Longitudinal natural history of type I spinal muscular atrophy: a critical reviewEugenio Mercuri, Simona Lucibello, Marco Perulli, et al.
American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
Journal of Clinical Medicine|August 12, 2023
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor FunctionSally Dunaway Young, Jacqueline Montes, Allan M Glanzman, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter studyClaude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, et al.
Pageof 31

Showing results (191-200 of 303) with videos related to

Sort By:
Pageof 31
Muscle & Nerve|June 18, 2014
Reply: To PMID 23893312Peter B Kang, Clifton L Gooch, Michael P McDermott, et al.
Neurology. Genetics|May 2, 2019
Homozygous <i>TRPV4</i> mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.
Annals of Biomedical Engineering|May 22, 2026
Multifrequency Electrical Impedance Myography Enhanced with Machine Learning for Screening Patients with Neuromuscular DisordersBuket Sonbas-Cobb, Seward B Rutkove, Baoguo Wei, et al.
Muscle & Nerve|July 30, 2013
The motor neuron response to SMN1 deficiency in spinal muscular atrophyPeter B Kang, Clifton L Gooch, Michael P McDermott, et al.
Muscle & Nerve|September 27, 2016
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathyPaulomi Mehta, Melanie Küspert, Tejus Bale, et al.
Journal of Neuromuscular Diseases|July 17, 2023
Identifying Biomarkers of Spinal Muscular Atrophy for Further DevelopmentJacqueline Glascock, Basil T Darras, Thomas O Crawford, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Longitudinal natural history of type I spinal muscular atrophy: a critical reviewEugenio Mercuri, Simona Lucibello, Marco Perulli, et al.
American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
Journal of Clinical Medicine|August 12, 2023
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor FunctionSally Dunaway Young, Jacqueline Montes, Allan M Glanzman, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter studyClaude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, et al.
Pageof 31