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Pinki Munot

Showing results (11-20 of 59) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2018
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathyEmma Matthews, Louise Hartley, Richa Sud, et al.
European Journal of Human Genetics : EJHG|July 21, 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiencyEleanor Hay, Louise C Wilson, Bethan Hoskins, et al.
Human Genome Variation|October 25, 2019
Novel missense variants in the <i>RNF213</i> gene from a European family with Moyamoya diseaseAndrey N Gagunashvili, Louise Ocaka, Daniel Kelberman, et al.
The Journal of Pediatrics|July 1, 2017
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric SymptomsEmma Matthews, Arpana Silwal, Richa Sud, et al.
Brain Communications|November 30, 2023
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centreJordan Poulos, Martin Samuels, Jacqueline Palace, et al.
Brain : a Journal of Neurology|November 29, 2022
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseasesAlberto A Zambon, Veronica Pini, Luca Bosco, et al.
BMJ Open|January 22, 2025
Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational studyLianne Abbott, Marion Main, Amy Wolfe, et al.
Pharmacoeconomics - Open|September 21, 2023
Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15Marty Chaplin, Rebecca Bresnahan, Nigel Fleeman, et al.
Archives of Disease in Childhood|June 2, 2016
Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?Nahla Alshaikh, Andreas Brunklaus, Tracey Davis, et al.
Pharmacoeconomics - Open|December 5, 2023
Correction: Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15Marty Chaplin, Rebecca Bresnahan, Nigel Fleeman, et al.
Pageof 6

Showing results (11-20 of 59) with videos related to

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Pageof 6
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2018
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathyEmma Matthews, Louise Hartley, Richa Sud, et al.
European Journal of Human Genetics : EJHG|July 21, 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiencyEleanor Hay, Louise C Wilson, Bethan Hoskins, et al.
Human Genome Variation|October 25, 2019
Novel missense variants in the <i>RNF213</i> gene from a European family with Moyamoya diseaseAndrey N Gagunashvili, Louise Ocaka, Daniel Kelberman, et al.
The Journal of Pediatrics|July 1, 2017
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric SymptomsEmma Matthews, Arpana Silwal, Richa Sud, et al.
Brain Communications|November 30, 2023
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centreJordan Poulos, Martin Samuels, Jacqueline Palace, et al.
Brain : a Journal of Neurology|November 29, 2022
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseasesAlberto A Zambon, Veronica Pini, Luca Bosco, et al.
BMJ Open|January 22, 2025
Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational studyLianne Abbott, Marion Main, Amy Wolfe, et al.
Pharmacoeconomics - Open|September 21, 2023
Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15Marty Chaplin, Rebecca Bresnahan, Nigel Fleeman, et al.
Archives of Disease in Childhood|June 2, 2016
Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?Nahla Alshaikh, Andreas Brunklaus, Tracey Davis, et al.
Pharmacoeconomics - Open|December 5, 2023
Correction: Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15Marty Chaplin, Rebecca Bresnahan, Nigel Fleeman, et al.
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