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Matias Wagner

Showing results (81-90 of 188) with videos related to

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Brain : a Journal of Neurology|January 17, 2021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrumRauan Kaiyrzhanov, Saskia Wortmann, Taryn Reid, et al.
Brain : a Journal of Neurology|December 22, 2020
Early-onset phenotype of bi-allelic GRN mutationsCaroline Neuray, Tipu Sultan, Javeira Raza Alvi, et al.
American Journal of Human Genetics|December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia TotalisMirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
Parkinsonism & Related Disorders|July 7, 2020
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystoniaMichael Zech, Theresa Brunet, Matej Škorvánek, et al.
Pediatric Pulmonology|August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variantsDominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Journal of Inherited Metabolic Disease|May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 PatientsNicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|May 4, 2020
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary NephropathiesKorbinian M Riedhammer, Matthias C Braunisch, Roman Günthner, et al.
Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Nature Medicine|April 22, 2025
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathyMatias Wagner, Géza Berecki, Walid Fazeli, et al.
Journal of Neurology|December 21, 2023
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnosesMartin Krenn, Matias Wagner, Gudrun Zulehner, et al.
Pageof 19

Showing results (81-90 of 188) with videos related to

Sort By:
Pageof 19
Brain : a Journal of Neurology|January 17, 2021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrumRauan Kaiyrzhanov, Saskia Wortmann, Taryn Reid, et al.
Brain : a Journal of Neurology|December 22, 2020
Early-onset phenotype of bi-allelic GRN mutationsCaroline Neuray, Tipu Sultan, Javeira Raza Alvi, et al.
American Journal of Human Genetics|December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia TotalisMirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
Parkinsonism & Related Disorders|July 7, 2020
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystoniaMichael Zech, Theresa Brunet, Matej Škorvánek, et al.
Pediatric Pulmonology|August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variantsDominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Journal of Inherited Metabolic Disease|May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 PatientsNicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|May 4, 2020
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary NephropathiesKorbinian M Riedhammer, Matthias C Braunisch, Roman Günthner, et al.
Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Nature Medicine|April 22, 2025
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathyMatias Wagner, Géza Berecki, Walid Fazeli, et al.
Journal of Neurology|December 21, 2023
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnosesMartin Krenn, Matias Wagner, Gudrun Zulehner, et al.
Pageof 19