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Karlla W Brigatti

Showing results (1-10 of 41) with videos related to

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Obstetrics and Gynecology Clinics of North America|April 6, 2004
First-trimester screening for aneuploidyKarlla W Brigatti, Fergal D Malone
Journal of Child Neurology|July 4, 2012
Novel diagnostic paradigms for Friedreich ataxiaKarlla W Brigatti, Eric C Deutsch, David R Lynch, et al.
Annals of Clinical and Translational Neurology|May 31, 2024
Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophySusan E Matesanz, Karlla W Brigatti, Millie Young, et al.
Muscle & Nerve|April 11, 2016
Effects of genetic severity on glucose homeostasis in Friedreich ataxiaCharles J Isaacs, Karlla W Brigatti, Olena Kucheruk, et al.
American Journal of Obstetrics and Gynecology|May 19, 2010
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implicationsLisa S Friedman, Erin K Paulsen, Kimberly A Schadt, et al.
Human Molecular Genetics|June 23, 2018
TNNT1 nemaline myopathy: natural history and therapeutic frontierMichael D Fox, Vincent J Carson, Han-Zhong Feng, et al.
Plos One|September 7, 2018
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural historyVincent J Carson, Erik G Puffenberger, Lauren E Bowser, et al.
Muscle & Nerve|October 4, 2021
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomyVincent J Carson, Millie Young, Karlla W Brigatti, et al.
Cell Reports. Medicine|May 13, 2026
Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine diseaseKarlla W Brigatti, Ashlin Rodrigues, Erin Sweigert, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
Pageof 5

Showing results (1-10 of 41) with videos related to

Sort By:
Pageof 5
Obstetrics and Gynecology Clinics of North America|April 6, 2004
First-trimester screening for aneuploidyKarlla W Brigatti, Fergal D Malone
Journal of Child Neurology|July 4, 2012
Novel diagnostic paradigms for Friedreich ataxiaKarlla W Brigatti, Eric C Deutsch, David R Lynch, et al.
Annals of Clinical and Translational Neurology|May 31, 2024
Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophySusan E Matesanz, Karlla W Brigatti, Millie Young, et al.
Muscle & Nerve|April 11, 2016
Effects of genetic severity on glucose homeostasis in Friedreich ataxiaCharles J Isaacs, Karlla W Brigatti, Olena Kucheruk, et al.
American Journal of Obstetrics and Gynecology|May 19, 2010
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implicationsLisa S Friedman, Erin K Paulsen, Kimberly A Schadt, et al.
Human Molecular Genetics|June 23, 2018
TNNT1 nemaline myopathy: natural history and therapeutic frontierMichael D Fox, Vincent J Carson, Han-Zhong Feng, et al.
Plos One|September 7, 2018
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural historyVincent J Carson, Erik G Puffenberger, Lauren E Bowser, et al.
Muscle & Nerve|October 4, 2021
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomyVincent J Carson, Millie Young, Karlla W Brigatti, et al.
Cell Reports. Medicine|May 13, 2026
Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine diseaseKarlla W Brigatti, Ashlin Rodrigues, Erin Sweigert, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
Pageof 5