A Tullio-Pelet

Mutant WD-repeat protein in triple-A syndrome

A Tullio-Pelet, Rémi Salomon, S. Hadj‐Rabia et al. · Nature Genetics · 2000 · 313 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Spectrum of Mutations of the<i>AAAS</i>Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin

Fabiano Sandrini, Constantine Farmakidis, Lawrence S. Kirschner et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 76 citations · Full text

Genetics, Human Polymorphism, Pathology +17

Progressive bulbospinal amyotrophy in Triple A syndrome with <i>AAAS</i> gene mutation

Cyril Goizet, Bogdan Catargi, F Tison et al. · Neurology · 2002 · 61 citations

Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the locus

A Tullio-Pelet, Vito Annese, Vincenzo Stanghellini et al. · Digestive and Liver Disease · 2005 · 22 citations

Idiopathic Achalasia

Phenotypic heterogeneity in AAAS gene mutation

Pascal Barat, Cyril Goizet, A Tullio-Pelet et al. · Acta Paediatrica · 2004 · 13 citations