Stephanie Efthymiou

71PUBLICATIONS
636CO-AUTHORS
Genome structure and regulationMicroelectromechanical systems (MEMS)Gene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Neonatology
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Publications (71)

|Oct 24, 2026
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration.

|Oct 24, 2026
Partial Loss of FITM2 Function Causes Hereditary Spastic Paraplegia.

|Oct 08, 2026
KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.

|Jul 19, 2026
"Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters".

|Jun 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

|Jun 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

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Frequent Collaborators

50 joint publications

Henry Houlden

28 joint publications

Reza Maroofian

12 joint publications

Mariasavina Severino

11 joint publications

Fowzan Sami Alkuraya