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Deborah L Renaud

Showing results (31-40 of 42) with videos related to

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JAMA Neurology|October 9, 2013
Childhood onset of stiff-man syndromeStacey L Clardy, Vanda A Lennon, Josep Dalmau, et al.
Pediatric Neurology|March 15, 2011
Neuronal voltage-gated potassium channel complex autoimmunity in childrenRadhika Dhamija, Deborah L Renaud, Sean J Pittock, et al.
Journal of Child Neurology|June 8, 2018
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status EpilepticusConor S Ryan, Anthony L Fine, Alexander L Cohen, et al.
Haematologica|July 15, 2018
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severitySimon Berhe, Matthew M Heeney, Dean R Campagna, et al.
Annals of Clinical and Translational Neurology|June 11, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, et al.
Eneuro|October 20, 2015
CSF and Blood Levels of GFAP in Alexander DiseasePaige L Jany, Guillermo E Agosta, William S Benko, et al.
Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
JAMA Neurology|October 9, 2013
Childhood onset of stiff-man syndromeStacey L Clardy, Vanda A Lennon, Josep Dalmau, et al.
Pediatric Neurology|March 15, 2011
Neuronal voltage-gated potassium channel complex autoimmunity in childrenRadhika Dhamija, Deborah L Renaud, Sean J Pittock, et al.
Journal of Child Neurology|June 8, 2018
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status EpilepticusConor S Ryan, Anthony L Fine, Alexander L Cohen, et al.
Haematologica|July 15, 2018
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severitySimon Berhe, Matthew M Heeney, Dean R Campagna, et al.
Annals of Clinical and Translational Neurology|June 11, 2020
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, et al.
Eneuro|October 20, 2015
CSF and Blood Levels of GFAP in Alexander DiseasePaige L Jany, Guillermo E Agosta, William S Benko, et al.
Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Pageof 5