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Matias Wagner

Showing results (31-40 of 188) with videos related to

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Clinical Neuropathology|November 30, 2021
Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementiaSigrid Klotz, Franz Riederer, Nora Hergovich, et al.
Gene|March 19, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditionsTheresa Brunet, Dominik S Westphal, Sandrina Weber, et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry|April 13, 2022
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet SyndromeRobert Lersch, Rawan Jannadi, Leonie Grosse, et al.
Clinical Genetics|March 15, 2019
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testingDominik S Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, et al.
Neurobiology of Aging|August 6, 2022
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrumSimon Witzel, Matias Wagner, Chen Zhao, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Neuromuscular Disorders : NMD|October 16, 2012
Presymptomatic late-onset Pompe disease identified by the dried blood spot testMatias Wagner, Amina Chaouch, Juliane S Müller, et al.
Annals of Clinical and Translational Neurology|October 1, 2019
Phenotypic variability of GABRA1-related epilepsy in monozygotic twinsMartin Krenn, Margot Ernst, Matthias Tomschik, et al.
Scientific Reports|December 10, 2020
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescentsFrederik Jan Moorhouse, Sonia Cornell, Lucia Gerstl, et al.
Pageof 19

Showing results (31-40 of 188) with videos related to

Sort By:
Pageof 19
Clinical Neuropathology|November 30, 2021
Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementiaSigrid Klotz, Franz Riederer, Nora Hergovich, et al.
Gene|March 19, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditionsTheresa Brunet, Dominik S Westphal, Sandrina Weber, et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry|April 13, 2022
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet SyndromeRobert Lersch, Rawan Jannadi, Leonie Grosse, et al.
Clinical Genetics|March 15, 2019
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testingDominik S Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, et al.
Neurobiology of Aging|August 6, 2022
Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrumSimon Witzel, Matias Wagner, Chen Zhao, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Neuromuscular Disorders : NMD|October 16, 2012
Presymptomatic late-onset Pompe disease identified by the dried blood spot testMatias Wagner, Amina Chaouch, Juliane S Müller, et al.
Annals of Clinical and Translational Neurology|October 1, 2019
Phenotypic variability of GABRA1-related epilepsy in monozygotic twinsMartin Krenn, Margot Ernst, Matthias Tomschik, et al.
Scientific Reports|December 10, 2020
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescentsFrederik Jan Moorhouse, Sonia Cornell, Lucia Gerstl, et al.
Pageof 19