Marie Hully

Paris, France

Last Updated: 09/26/2026

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Found 63 publications

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

Journal: Molecular genetics and metabolism

Published: June 02, 2026

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

Journal: Nature communications

Published: November 04, 2025

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.

Journal: European journal of neurology

Published: July 01, 2025

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Journal: Molecular genetics and metabolism

Published: June 18, 2025

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Journal: Molecular genetics and metabolism

Published: June 10, 2025

Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain-Barré Syndrome.

Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain-Barré Syndrome.

Journal: European journal of neurology

Published: April 16, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

French protocol for diagnosis and management of type 1 interferonopathies.

French protocol for diagnosis and management of type 1 interferonopathies.

Journal: La Revue de medecine interne

Published: January 30, 2025

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Journal: Annals of neurology

Published: October 28, 2024

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Journal: Epilepsia open

Published: October 11, 2024

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

Journal: HGG advances

Published: July 29, 2024

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

Journal: European journal of medical genetics

Published: June 19, 2024

Showing 1-12 of 63

Last Updated: 09/26/2026