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Journal of Neuromuscular Diseases
|
January 8, 2024
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
Nikki Cornell, Anne-Marie Childs, Elizabeth Wraige, et al.
Neurology. Genetics
|
March 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, et al.
Muscle & Nerve
|
September 5, 2024
Secondary outcomes of scoliosis surgery in disease-modifying treatment-naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
Chiara Brusa, Giovanni Baranello, Deborah Ridout, et al.
Brain : a Journal of Neurology
|
July 27, 2012
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
Pinki Munot, Dawn E Saunders, Dianna M Milewicz, et al.
Frontiers in Pediatrics
|
June 27, 2022
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort
Laia Brunet Garcia, Ankita Hajra, Ella Field, et al.
Neuromuscular Disorders : NMD
|
January 17, 2021
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
Renske I Wadman, Ramona De Amicis, Chiara Brusa, et al.
Chest
|
May 11, 2020
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study
Federica Trucco, Joana P Domingos, Chee Geap Tay, et al.
Neurology
|
August 29, 2023
Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related Myopathy
Anna Sarkozy, Mario Sa, Deborah Ridout, et al.
Neuropathology and Applied Neurobiology
|
October 14, 2021
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain
Pinki Munot, Nadine McCrea, Silvia Torelli, et al.
Brain : a Journal of Neurology
|
February 3, 2026
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Sithara Ramdas, Yin Yao Dong, Pinki Munot, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 59) with videos related to
Sort By:
Page
of 6
Journal of Neuromuscular Diseases
|
January 8, 2024
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
Nikki Cornell, Anne-Marie Childs, Elizabeth Wraige, et al.
Neurology. Genetics
|
March 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, et al.
Muscle & Nerve
|
September 5, 2024
Secondary outcomes of scoliosis surgery in disease-modifying treatment-naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
Chiara Brusa, Giovanni Baranello, Deborah Ridout, et al.
Brain : a Journal of Neurology
|
July 27, 2012
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
Pinki Munot, Dawn E Saunders, Dianna M Milewicz, et al.
Frontiers in Pediatrics
|
June 27, 2022
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort
Laia Brunet Garcia, Ankita Hajra, Ella Field, et al.
Neuromuscular Disorders : NMD
|
January 17, 2021
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2
Renske I Wadman, Ramona De Amicis, Chiara Brusa, et al.
Chest
|
May 11, 2020
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study
Federica Trucco, Joana P Domingos, Chee Geap Tay, et al.
Neurology
|
August 29, 2023
Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related Myopathy
Anna Sarkozy, Mario Sa, Deborah Ridout, et al.
Neuropathology and Applied Neurobiology
|
October 14, 2021
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain
Pinki Munot, Nadine McCrea, Silvia Torelli, et al.
Brain : a Journal of Neurology
|
February 3, 2026
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Sithara Ramdas, Yin Yao Dong, Pinki Munot, et al.
Page
of 6