Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency-Reference-Cited by-同舟云学术

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency

Published:2023-04 Issue:2 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Monfrini Edoardo¹^ORCID,Pesini Alba¹^ORCID,Biella Fabio¹^ORCID,Sobreira Claudia F.R.¹^ORCID,Emmanuele Valentina¹,Brescia Gloria¹,Lopez Luis Carlos¹^ORCID,Tadesse Saba¹,Hirano Michio¹^ORCID,Comi Giacomo P.¹,Quinzii Catarina Maria¹^ORCID,Di Fonzo Alessio¹^ORCID

Affiliation:

1. From the Foundation 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...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200058

Reference27 articles.

1. Clinical syndromes associated with Coenzyme Q10 deficiency

2. Metabolic Targets of Coenzyme Q10 in Mitochondria

3. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

4. Cerebellar ataxia and coenzyme Q10 deficiency

5. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

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