Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant

por Gropman, Andrea, Chiaramello, Anne
Publicado 2018

The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant

por Gropman, Andrea, Chiaramello, Anne
Publicado 2019

The neurogenic basic helix–loop–helix transcription factor NeuroD6 confers tolerance to oxidative stress by triggering an antioxidant response and sustaining the mitochondrial biom...

por Uittenbogaard, Martine, Baxter, Kristin Kathleen, Chiaramello, Anne
Publicado 2010

Epigenetic modifiers promote mitochondrial biogenesis and oxidative metabolism leading to enhanced differentiation of neuroprogenitor cells

por Uittenbogaard, Martine, Brantner, Christine A., Chiaramello, Anne
Publicado 2018

Clinical Insights into Mitochondrial Neurodevelopmental and Neurodegenerative Disorders: Their Biosignatures from Mass Spectrometry-Based Metabolomics

por Li, Haorong, Uittenbogaard, Martine, Hao, Ling, Chiaramello, Anne
Publicado 2021

The neurogenic basic helix–loop–helix transcription factor NeuroD6 concomitantly increases mitochondrial mass and regulates cytoskeletal organization in the early stages of neurona...

por Kathleen Baxter, Kristin, Uittenbogaard, Martine, Yoon, Jeongae, Chiaramello, Anne
Publicado 2009

Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy

por Uittenbogaard, Martine, Gropman, Andrea, Brantner, Christine A., Chiaramello, Anne
Publicado 2018

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childh...

por Gropman, Andrea, Uittenbogaard, Martine, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Chiaramello, Anne
Publicado 2020

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

por Uittenbogaard, Martine, Sen, Kuntal, Whitehead, Matthew, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Gropman, Andrea, Chiaramello, Anne
Publicado 2021