Emmanuelle Le Trionnaire

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

David A. Dyment, Erick Sell, Megan R. Vanstone et al. · Clinical Genetics · 2013 · 52 citations

Life Sciences, Genetics, Neurology +17

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire et al. · Orphanet Journal of Rare Diseases · 2015 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Mariana Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro et al. · Molecular Genetics and Metabolism · 2013 · 30 citations

Life Sciences, Genetics, Molecular Genetics +11

Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis

Mikhail M. Kostik, Laly I. Vasyakina, Emmanuelle Le Trionnaire et al. · Journal of Inherited Metabolic Disease · 2013 · 28 citations

Medicine, Pathology, Pediatrics +11