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Pinki Munot

Showing results (31-40 of 59) with videos related to

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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 BritainNikki 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 PeriodGianpaolo 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 3Chiara 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 mutationsPinki Munot, Dawn E Saunders, Dianna M Milewicz, et al.
Frontiers in Pediatrics|June 27, 2022
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric CohortLaia 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 2Renske 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 StudyFederica 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 MyopathyAnna 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 brainPinki 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.
Pageof 6

Showing results (31-40 of 59) with videos related to

Sort By:
Pageof 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 BritainNikki 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 PeriodGianpaolo 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 3Chiara 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 mutationsPinki Munot, Dawn E Saunders, Dianna M Milewicz, et al.
Frontiers in Pediatrics|June 27, 2022
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric CohortLaia 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 2Renske 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 StudyFederica 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 MyopathyAnna 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 brainPinki 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.
Pageof 6