Ali-Pacha, Lamia

Top Publications

Top Publications Authored or Co-Authored by "Ali-Pacha, Lamia"

• 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
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients

  Journal of the Neurological Sciences, Volume 278, No. 1-2, Year 2009, Citations 61