Home › Researcher directory › B. Chabrol

B. Chabrol

Affiliation : Assistance Publique Hôpitaux de Marseille · Hôpital de la Timone

• 4Publications (affiliation in France)
• 561Total publications
• 11453Citations
• 55h-index

ORCIDOpenAlex

Research profile

B. Chabrol has 4 indexed publications (2003–2010). Their work appears mainly in “Brain”, “Journal of Medical Genetics” and “Human Mutation”. Their most cited article, “Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients” (2009), has been cited 249 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 Norway, DR Congo.

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

• Metabolism and Genetic Disorders
• Lysosomal Storage Disorders Research
• Genomics and Rare Diseases
• Glycogen Storage Diseases and Myoclonus
• Neurogenetic and Muscular Disorders Research

Publications (4)

• Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
  2010 · Journal of Medical Genetics · cited 12 times
• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
  2009 · Brain · cited 249 times
• Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
  2009 · Brain · cited 147 times
• Identification of seven novel mutations in theGAN gene
  2003 · Human Mutation · cited 49 times

Publication venues

• Brain × 2
• Journal of Medical Genetics × 1
• Human Mutation × 1

Publications per year

• 20101
• 20092
• 20031

Collaborations

Partner institutions : Assistance Publique – Hôpitaux de Paris · Inserm · Pitié-Salpêtrière Hospital · Université Pierre-et-Marie-Curie · Institut de génétique et de biologie moléculaire et cellulaire

Co-authors’ countries : Norway · DR Congo

Co-authors

• Michel Koenig
• Alexis Brice
• Alexandra Dürr
• B. Monga
• Marie‐Céline Fleury
• Fabienne Clot
• Chann San
• Agnès Camuzat
• Jean Pouget
• JM. Vallat
• Cécile Cazeneuve
• Mathieu Anheim

Bibliographic data from OpenAlex (open database).