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Vincent Procaccio

Affiliation : Centre National de la Recherche Scientifique · Inserm · Centre Hospitalier Universitaire d'Angers · Mitochondrial and Cardiovascular Physiopathology · Université d'Angers

• 11Publications (affiliation in France)
• 354Total publications
• 17019Citations
• 70h-index

ORCIDOpenAlex

Research profile

Vincent Procaccio has 11 indexed publications (2018–2022). Their work appears mainly in “Bioscience Reports”, “Genes” and “Brain Communications”. Their most cited article, “AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders” (2019), has been cited 253 times. 9 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Morocco.

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Research areas

• Mitochondrial Function and Pathology
• Metabolism and Genetic Disorders
• Genomics and Rare Diseases
• Hereditary Neurological Disorders
• Glaucoma and retinal disorders

Publications (11)

• Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment
  2022 · Bioscience Reports · cited 7 times
• Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
  2022 · Genes · cited 5 times
• DominantACO2mutations are a frequent cause of isolated optic atrophy
  2021 · Brain Communications · cited 38 times
• Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
  2021 · Frontiers in Neurology · cited 20 times
• Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
  2021 · Molecular Neurodegeneration · cited 13 times
• ACO2 clinicobiological dataset with extensive phenotype ontology annotation
  2021 · Scientific Data · cited 8 times
• Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
  2020 · Neurology Genetics · cited 52 times
• Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
  2020 · Molecular Biology Reports · cited 8 times
• First characterization of LHON pedigrees in North Africa
  2020 · Eye · cited 4 times
• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
  2019 · Nature Communications · cited 253 times
• Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
  2018 · Clinica Chimica Acta · cited 24 times

Publication venues

• Bioscience Reports × 1
• Genes × 1
• Brain Communications × 1
• Frontiers in Neurology × 1
• Molecular Neurodegeneration × 1
• Scientific Data × 1

Publications per year

• 20222
• 20214
• 20203
• 20191
• 20181

Collaborations

Partner institutions : Mohamed I University · Assistance Publique – Hôpitaux de Paris · Pitié-Salpêtrière Hospital · Hôpital Armand-Trousseau · Centre Hospitalier Universitaire de Montpellier

Co-authors’ countries : Morocco

Co-authors

• Guy Lenaers
• Patrizia Amati‐Bonneau
• Majida Charif
• Céline Bris
• Valérie Desquiret‐Dumas
• Dominique Bonneau
• David Goudenège
• Pascal Reynier
• Estelle Colin
• Xavier Zanlonghi
• Arnaud Chevrollier
• Isabelle Meunier

Bibliographic data from OpenAlex (open database).