Fiorella Speziani

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo et al. · Nature Genetics · 2015 · 200 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast et al. · The American Journal of Human Genetics · 2013 · 188 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schüle, José Leal Loureiro et al. · The American Journal of Human Genetics · 2013 · 178 citations · Full text

Medicine, Physiology, Ganglioside Biosynthesis Responsible +7

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

Michael Gonzalez, Shawna Feely, Fiorella Speziani et al. · Brain · 2014 · 138 citations · Full text

Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family

Gladys Montenegro, Eric Powell, Jiaqiang Huang et al. · Annals of Neurology · 2011 · 123 citations