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Esther Meyer

Showing results (51-60 of 61) with videos related to

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Science Translational Medicine|May 20, 2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonismJoanne Ng, Serena Barral, Carmen De La Fuente Barrigon, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
Brain : a Journal of Neurology|May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationSusan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
Nature Genetics|May 27, 2017
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Science Translational Medicine|May 20, 2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonismJoanne Ng, Serena Barral, Carmen De La Fuente Barrigon, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
Brain : a Journal of Neurology|May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationSusan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
Nature Genetics|May 27, 2017
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 7