COQ7 defect causes prenatal onset of mitochondrial CoQ


Journal

European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235

Informations de publication

Date de publication:
03 May 2024
Historique:
received: 11 12 2023
accepted: 17 04 2024
revised: 22 03 2024
medline: 4 5 2024
pubmed: 4 5 2024
entrez: 3 5 2024
Statut: aheadofprint

Résumé

COQ7 pathogenetic variants cause primary CoQ

Identifiants

pubmed: 38702428
doi: 10.1038/s41431-024-01615-w
pii: 10.1038/s41431-024-01615-w
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024. The Author(s).

Références

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Auteurs

Ilaria Pettenuzzo (I)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.

Sara Carli (S)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Center for Applied Biomedical Research, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.

Ana Sánchez-Cuesta (A)

Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Seville, 41013, Spain.

Federica Isidori (F)

Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.

Francesca Montanari (F)

Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.

Mina Grippa (M)

Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.

Giulia Lanzoni (G)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.

Irene Ambrosetti (I)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.

Veronica Di Pisa (V)

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.

Duccio Maria Cordelli (DM)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.

Maria Cristina Mondardini (MC)

Pediatric Anesthesia and Intensive Care Unit, Department of Woman's and Child's Health, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Tommaso Pippucci (T)

Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.

Luca Ragni (L)

Pediatric Cardiology and Adult Congenital Heart Disease Program, Department of Cardio-Thoracic and Vascular Medicine, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Giovanna Cenacchi (G)

Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.

Roberta Costa (R)

Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.

Mario Lima (M)

Pediatric Surgery Department, IRCCS Sant'Orsola-Malpighi Polyclinic, Alma Mater Studiorum-University of Bologna, 40126, Bologna, Italy.

Maria Antonietta Capristo (MA)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

Concetta Valentina Tropeano (CV)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

Leonardo Caporali (L)

Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

Valerio Carelli (V)

Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

Elena Brunelli (E)

Obstetric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna University of Bologna, Bologna, Italia.

Monica Maffei (M)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di neuroradiologia con tecniche ad elevata complessità, Bologna, Italia.

Hodman Ahmed Sheikhmaye (H)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di neuroradiologia con tecniche ad elevata complessità, Bologna, Italia.

Anna Fetta (A)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.

Gloria Brea-Calvo (G)

Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Seville, 41013, Spain.

Caterina Garone (C)

Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy. caterina.garone@unibo.it.
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy. caterina.garone@unibo.it.
Center for Applied Biomedical Research, Alma Mater Studiorum, University of Bologna, 40138, Bologna, Italy. caterina.garone@unibo.it.

Classifications MeSH