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Pinki Munot

Showing results (41-50 of 59) with videos related to

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Muscle & Nerve|October 4, 2021
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international studyFederica Trucco, Deborah Ridout, Joana Domingos, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|June 4, 2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathyDesiree De Simoni, Gerda Ricken, Michael Winklehner, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo <i>SPTLC2</i> variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.
Eclinicalmedicine|May 21, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational studyGianpaolo Cicala, Anna Capasso, Marianna Villa, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
Pageof 6

Showing results (41-50 of 59) with videos related to

Sort By:
Pageof 6
Muscle & Nerve|October 4, 2021
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international studyFederica Trucco, Deborah Ridout, Joana Domingos, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|June 4, 2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathyDesiree De Simoni, Gerda Ricken, Michael Winklehner, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S EnzymesNunziata Maio, Rotem Orbach, Irina Zaharieva, et al.
The Journal of Clinical Investigation|July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesNunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo <i>SPTLC2</i> variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.
Eclinicalmedicine|May 21, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational studyGianpaolo Cicala, Anna Capasso, Marianna Villa, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, et al.
Pageof 6