Michel Philippart
Hôpital Orthopédique de la Suisse Romande(CH)University of Lausanne(CH)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Carbohydrate Chemistry and Synthesis, Glycogen Storage Diseases and Myoclonus, Glycosylation and Glycoproteins Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)287 cited
- → MeCP2 mutations in children with and without the phenotype of Rett syndrome(2001)227 cited
- → The nomenclature of lipids (Recommendations 1976) IUPAC-IUB Commission on Biochemical Nomenclature(1978)225 cited
- → Angelman syndrome: Correlations between epilepsy phenotypes and genotypes(1998)191 cited
- → Pheno/genotypic correlations of neuronal ceroid lipofuscinoses(2001)101 cited
- → Neuropathology of Rett Syndrome: Case Report With Neuronal and Mitochondrial Abnormalities in the Brain(1994)90 cited