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Manoj P Menezes

Showing results (31-40 of 68) with videos related to

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Neuromuscular Disorders : NMD|August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centreWui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
Neurology|April 8, 2018
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3Manoj Kanhangad, Kayla Cornett, Megan H Brewer, et al.
The Lancet. Child & Adolescent Health|September 1, 2018
Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trialJoshua Burns, Amy D Sman, Kayla M D Cornett, et al.
Seizure|June 1, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyKavitha Kothur, Katherine Holman, Elizabeth Farnsworth, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Muscle & Nerve|February 14, 2024
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophyNatassja Billich, Paula Bray, Helen Truby, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, et al.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
Plos Genetics|July 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Megan H Brewer, Rabia Chaudhry, Jessica Qi, et al.
Pageof 7

Showing results (31-40 of 68) with videos related to

Sort By:
Pageof 7
Neuromuscular Disorders : NMD|August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centreWui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
Neurology|April 8, 2018
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3Manoj Kanhangad, Kayla Cornett, Megan H Brewer, et al.
The Lancet. Child & Adolescent Health|September 1, 2018
Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trialJoshua Burns, Amy D Sman, Kayla M D Cornett, et al.
Seizure|June 1, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyKavitha Kothur, Katherine Holman, Elizabeth Farnsworth, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Muscle & Nerve|February 14, 2024
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophyNatassja Billich, Paula Bray, Helen Truby, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, et al.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
Plos Genetics|July 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Megan H Brewer, Rabia Chaudhry, Jessica Qi, et al.
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