Alessandro Malandrini

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

Rosalba Carrozzo, Alessandra Tessa, Marta Elisa Vázquez-Memije et al. · Neurology · 2001 · 93 citations

Genetics, Novel Mtdna Mutation, Molecular Biology +17

Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1

Kristien Verhoeven, Marcello Villanova, Alessandro Rossi et al. · The American Journal of Human Genetics · 2001 · 67 citations · Full text

Biology, Cytogenetics, Genetics +7

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

Claudio Bruno, Enrico Bertini, Antonio Federico et al. · Neurology · 2004 · 67 citations

<i>PAX6</i> mutation in a family with aniridia, congenital ptosis, and mental retardation

Alessandro Malandrini, Francesca Mari, Silvia Palmeri et al. · Clinical Genetics · 2001 · 59 citations

Developmental Anomaly, Mendelian Disorder, Point Mutations +12

Screening of ARHSP-TCC patients expands the spectrum of<i>SPG11</i>mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali et al. · Human Mutation · 2008 · 59 citations

Immunodeficiencies, Genetics, Pathology +17