K. Azibi

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Kiichiro Matsumura, F.M.S. Tomé, H. Barry Collin et al. · Nature · 1992 · 252 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +5

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Fédérica Piccolo, Steven L. Roberds, Marc Jeanpierre et al. · Nature Genetics · 1995 · 190 citations

Rare Diseases, Variable Severity, Ophthalmology +6

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

Justine Bouilly, Isabelle Beau, Sara Barraud et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 141 citations · Full text

Primary adhalinopathy (α‐sarcoglycanopathy)

B. Eymard, Norma B. Romero, France Leturcq et al. · Neurology · 1997 · 134 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +13

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Alain Carrié, Fédérica Piccolo, France Leturcq et al. · Journal of Medical Genetics · 1997 · 115 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +13