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Pinki Munot

Showing results (51-60 of 59) with videos related to

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The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Pageof 6

Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Pageof 6