Fiorella Speziani
University of Miami(US)Dr. John T. Macdonald Foundation(US)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder(2015)204 cited
- → Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia(2013)189 cited
- → Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia(2013)180 cited
- → A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease(2014)143 cited
- → Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2(2013)125 cited
- → Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family(2011)123 cited
- → Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia(2014)102 cited
- → Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12(2013)92 cited
- → Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier(2014)78 cited
- → GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis(2013)76 cited