Drouot, Nathalie

Top Publications

Top Publications Authored or Co-Authored by "Drouot, Nathalie"

• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

  American Journal of Human Genetics, Volume 82, No. 3, Year 2008, Citations 301
• Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  Brain, Volume 132, No. 10, Year 2009, Citations 218
• Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

  American Journal of Human Genetics, Volume 87, No. 3, Year 2010, Citations 198
• Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management

  Neurogenetics, Volume 11, No. 1, Year 2010, Citations 168
• The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

  Brain, Volume 137, No. 2, Year 2014, Citations 106