ArticleNeurology. Genetics2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Coenzyme QFree radical biology & medicine · 2025Article
- The role of CoQ10 in embryonic development.Journal of assisted reproduction and genetics · 2024Review
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Authors and funding
12 authors at 1 institution in 2 countries.
Edoardo MonfriniFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0003-4720-9234
Alba PesiniFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0001-9695-7349
Fabio BiellaFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0001-6711-211X
Claudia F R SobreiraFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0002-7420-1644
Valentina EmmanueleFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.
Gloria BresciaFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.
Luis Carlos LopezFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0003-3355-0298
Saba TadesseFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.
Michio HiranoFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0002-7070-7402
Giacomo P ComiFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.
Catarina Maria QuinziiFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0003-3819-1298
Alessio Di FonzoFoundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.B., A.D.F.), Neurology Unit, Milan, Italy; Dino Ferrari Center (E.M., F.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Italy; Department of Neurology (A.P., V.E., S.T., M.H., C.M.Q.), Columbia University Medical Center, New York; Universidade de São Paulo (C.F.R.S.), Ribeirão Preto Medical School, Department of Neurosciences, Brazil; Departamento de Fisiología (L.C.L.), Facultad de Medicina, Universidad de Granada, Spain; and Centro de Investigación Biomédica (L.C.L.), Instituto de Biotecnología, Universidad de Granada, Spain.ORCID https://orcid.org/0000-0001-6478-026X
University of Milan · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Coenzyme Q Methods: WES was performed on genomic DNA extracted from 16 patients. Sequencing data were filtered using a virtual panel of genes associated with CoQ Results: A definite genetic etiology was identified in 8 samples of 16 (diagnostic yield = 50%). The identified genetic causes were pathogenic variants of the genes Discussion: This work confirms the importance of
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