Etablissement Hospitalier Spécialisé Ali Ait Idir

Top Publications

Top Publications Authored or Co-Authored in "Etablissement Hospitalier Spécialisé Ali Ait Idir"

• 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
• Early onset collagen VI myopathies: Genetic and clinical correlations

  Annals of Neurology, Volume 68, No. 4, Year 2010, Citations 115
• New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

  Neurogenetics, Volume 5, No. 1, Year 2004, Citations 85
• Ethnicity-related DMD genotype landscapes in European and non-European countries

  Neurology: Genetics, Volume 7, No. 1, Article e536, Year 2021, Citations 49
• Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: Phenotype analysis of 11 families linked to the COL6 loci

  Neuropediatrics, Volume 35, No. 2, Year 2004, Citations 38