Concepedia
Statistics
Publications
53
Citations
3K
H-Index
31
Active since
1982
Affiliations
University of Parma(Current)
Fondazione IRCCS Istituto Neurologico Carlo Besta
Institut Curie
Bambino Gesù Children's Hospital
Istituti di Ricovero e Cura a Carattere Scientifico
P Goffrini is an author at University of Parma specializing in life sciences, genetics, and microbiology.
Publications per year
1982–2024
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Daniele Ghezzi, P Goffrini, Graziella Uziel et al. · Nature Genetics · 2009 · 245 citations
Life Sciences, Genetics, Molecular Genetics +9
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 204 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase
Valeria Massa, Erika Fernández‐Vizarra, Saad AlShahwan et al. · The American Journal of Human Genetics · 2008 · 193 citations · Full text
Life Sciences, Genetics, Neuroscience +13
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini et al. · Human Molecular Genetics · 2007 · 182 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
Recessive germline <i>SDHA</i> and <i>SDHB</i> mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Charlotte L. Alston, James Davison, Francesca Meloni et al. · Journal of Medical Genetics · 2012 · 126 citations · Full text
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