Home › Researcher directory › Mathieu Milh

Mathieu Milh

Affiliation : Aix-Marseille Université · Assistance Publique Hôpitaux de Marseille · Hôpital de la Timone

• 4Publications (affiliation in France)
• 270Total publications
• 7707Citations
• 47h-index

ORCIDOpenAlex

Research profile

Mathieu Milh has 4 indexed publications (2010–2024). Their work appears mainly in “Nature Communications”, “Genetics in Medicine” and “Epilepsia”. Their most cited article, “Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease” (2010), has been cited 45 times. 3 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Tunisia.

Is this you? Get your research seen

Create your free DzCademia profile and add your articles: they will show up more easily on Google and in AI assistants like ChatGPT, so more people can read and cite your work.

Create my free profile Add my publications

Research areas

• Epilepsy research and treatment
• Genomics and Rare Diseases
• Genetics and Neurodevelopmental Disorders
• Pharmacological Effects and Toxicity Studies
• Fetal and Pediatric Neurological Disorders

Publications (4)

• Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
  2024 · Genetics in Medicine · cited 5 times
• Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
  2023 · Nature Communications · cited 24 times
• Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
  2023 · Nature Communications
• Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
  2010 · Epilepsia · cited 45 times

Publication venues

• Nature Communications × 2
• Genetics in Medicine × 1
• Epilepsia × 1

Publications per year

• 20241
• 20232
• 20101

Collaborations

Partner institutions : Inserm · Hospices Civils de Lyon · Centre National de la Recherche Scientifique · Lyon 1 Université · CHU Dijon Bourgogne

Co-authors’ countries : Tunisia

Co-authors

• Lydie Bürglen
• Gaëtan Lesca
• Ken McElreavey
• Nadine J Girard
• Dorothee M. Ville
• Anu Bashamboo
• Josette Mancini
• M. Lemesle
• Nadia Boutry‐Kryza
• Louis Georges Maillard
• Nicolas Chatron
• Édouard Hirsch

Bibliographic data from OpenAlex (open database).