A. Tullio-Pelet

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

D. Lacombe, F. Tison, S. Lyonnet, 2002, Neurology.

Mutant WD-repeat protein in triple-A syndrome

Claude Mugnier, Arnold Munnich, Rémi Salomon, 2000, Nature Genetics.

Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

C. Stratakis, S. Lyonnet, C. Bourdony, 2001, The Journal of clinical endocrinology and metabolism.

Estimating the age of rare disease mutations: the example of Triple-A syndrome

E. Génin, L. Abel, S. Lyonnet, 2004, Journal of Medical Genetics.

Exclusion of WNT4 as a major gene in Rokitansky‐Küster‐Hauser anomaly

A. Munnich, S. Lyonnet, J. Picard, 2005, American journal of medical genetics. Part A.

Triple-A Syndrome: A Rare Etiology of Adult Achalasia

S. Roman, D. Péré-Vergé, F. Mion, 2005, Digestive Diseases and Sciences.

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

M. Vidailhet, S. Lyonnet, E. Apartis, 2004, Movement disorders : official journal of the Movement Disorder Society.

Phenotypic heterogeneity in AAAS gene mutation

C. Goizet, P. Barat, O. Puel, 2004, Acta paediatrica.