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Neuromuscular Disorders : NMD|May 9, 2024
Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patientsFreddy Paiz, Issa Alawneh, Elisa Nigro, et al.
Handbook of Clinical Neurology|February 27, 2018
The genetics of congenital myopathiesHernan D Gonorazky, Carsten G Bönnemann, James J Dowling
Seminars in Pediatric Neurology|May 8, 2019
Signs and Symptoms in Congenital MyopathiesHernan D Gonorazky, James J Dowling, Jonathan R Volpatti, et al.
American Journal of Medical Genetics. Part A|September 11, 2017
Treating pediatric neuromuscular disorders: The future is nowJames J Dowling, Hernan D Gonorazky, Ronald D Cohn, et al.
Pediatric Pulmonology|October 4, 2022
Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersenLena Xiao, Jackie Chiang, Maria Castro-Codesal, et al.
Neuromuscular Disorders : NMD|February 26, 2022
Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult careDeepak Menon, Hernan D Gonorazky, James J Dowling, et al.
Neurology. Clinical Practice|November 16, 2022
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen EraFatima Al Amrani, Reshma Amin, Jackie Chiang, et al.
Disease Models & Mechanisms|June 13, 2022
Natural history of a mouse model of X-linked myotubular myopathyEge Sarikaya, Nesrin Sabha, Jonathan Volpatti, et al.
Neuromuscular Disorders : NMD|March 7, 2017
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4AHernan D Gonorazky, Christian R Marshall, Maryam Al-Murshed, et al.
Neuromuscular Disorders : NMD|May 16, 2018
Uniparental disomy unveils a novel recessive mutation in POMT2Brianna N Brun, Tobias Willer, Benjamin W Darbro, et al.
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