Concepedia
Statistics
Publications
35
Citations
1.5K
H-Index
23
Active since
1993
Affiliations
Duran i Reynals Hospital(Current)
Institut d'Investigació Biomédica de Bellvitge
Hospital Clínic de Barcelona
Universitat Autònoma de Barcelona
Universitat Pompeu Fabra
Vı́ctor Volpini is an author at Duran i Reynals Hospital specializing in genetics, life sciences, and human genetics.
Publications per year
1993–2022
Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father
Conxi Lázaro, Anna Ravella, Antonia Gaona et al. · New England Journal of Medicine · 1994 · 149 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases
Miguel Angel Pujana, Jordi Corral, Mónica Gratacòs et al. · Human Genetics · 1999 · 131 citations
Life Sciences, Genetics, Neurology +17
Heterozygous <i>STUB1</i> mutation causes familial ataxia with cognitive affective syndrome (SCA48)
Sara Ortega‐Cubero, Héctor San Nicolás, Jordi Corral et al. · Neurology · 2018 · 107 citations
Life Sciences, Genetics, Neurology +16
Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation
Rafael Artuch, Gloria Brea‐Calvo, Paz Briones et al. · Journal of the Neurological Sciences · 2006 · 100 citations
Life Sciences, Neurology, Neuroscience +11
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
Conxi Lázaro, Antonia Gaona, Peter Ainsworth et al. · Human Genetics · 1996 · 98 citations
Life Sciences, Genetics, Molecular Genetics +12
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