Vı́ctor Volpini
Institut d'Investigació Biomédica de Bellvitge(ES)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Hereditary Neurological Disorders, Neurological diseases and metabolism, Neurological disorders and treatments
Most-Cited Works
- → Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father(1994)149 cited
- → Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases(1999)131 cited
- → Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)(2018)105 cited
- → Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation(2006)99 cited
- → Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients(1996)98 cited
- → Diagnosis of Charcot‐Marie‐Tooth Disease(2009)86 cited
- → Machado‐Joseph disease, spinopontine atrophy, and SCA3