AGNES ROTIG

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Articles (13)

Collaborators (4)

Sulin Wu

University of California, Los Angeles

UNITED STATES

Melodie Aubart

Imagine Institute for Genetic Diseases

Julie Steffann

Metodi D Metodiev

Inserm u1183

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AGNES ROTIG

Research Interests

Explore related searches

Contact this professor

Articles (13)

Collaborators (4)

Sulin Wu

Melodie Aubart

Julie Steffann

Metodi D Metodiev

Make your next move.

AGNES ROTIG

Research Interests

Explore related searches

Contact this professor

Articles (13)

Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

Polyradiculoneuritis on MRI

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders

Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.

Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia.

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Improving post-natal detection of mitochondrial DNA mutations.

Collaborators (4)

Sulin Wu

Melodie Aubart

Julie Steffann

Metodi D Metodiev

Make your next move.