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Záznam pochází z PubMed

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Diodato, Daria
Autor Diodato, Daria Unit of Neuromuscular and Neurodegenerative Disorders, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy
Schiff, Manuel
Autor Schiff, Manuel Reference Center for Mitochondrial Disease, CARAMMEL, Necker University Hospital, APHP and University of Paris Cité, Paris, France; INSERM UMRS_1163, Institut Imagine, Paris, France
Cohen, Bruce H
Autor Cohen, Bruce H Department of Pediatrics and Rebecca D. Considine Research Institute, Akron Children's Hospital, Akron, OH, United States
Bertini, Enrico
Autor Bertini, Enrico Unit of Neuromuscular and Neurodegenerative Disorders, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy
Rahman, Shamima
Autor Rahman, Shamima Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK and Metabolic Unit, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom. Electronic address: shamima.rahman@ucl.ac.uk
Workshop participants
Autor Workshop participants

Neuromuscular disorders. 2023 Aug ; 33 (8) : 700-709. [epub] 20230615

Neuromuscul Disord
ISSN 1873-2364 | 0960-8966
Zdroj

Jazyk angličtina Země Anglie, Velká Británie Médium print-electronic

Typ dokumentu kongresy, práce podpořená grantem

Perzistentní odkaz https://www.medvik.cz/link/pmid37541860

Grantová podpora
G1000848 Medical Research Council - United Kingdom
MR/N025431/2 Medical Research Council - United Kingdom
MR/V009346/1 Medical Research Council - United Kingdom

PubMed 37541860
DOI 10.1016/j.nmd.2023.06.002
PII: S0960-8966(23)00150-5
Knihovny.cz E-zdroje

Klíčová slova
Diagnosis, Leigh syndrome spectrum, Oxidative phosphorylation, Primary mitochondrial disease, Treatment,
MeSH
Leighova nemoc * genetika terapie MeSH
lidé MeSH
Check Tag
lidé MeSH
Publikační typ
kongresy MeSH
práce podpořená grantem MeSH
Geografické názvy
Nizozemsko MeSH

Department of Pediatrics and Rebecca D Considine Research Institute Akron Children's Hospital Akron OH United States

Genetics and Genomic Medicine Department UCL Great Ormond Street Institute of Child Health London WC1N 1EH UK and Metabolic Unit Great Ormond Street Hospital London WC1N 3JH United Kingdom

Reference Center for Mitochondrial Disease CARAMMEL Necker University Hospital APHP and University of Paris Cité Paris France; INSERM UMRS_1163 Institut Imagine Paris France

Unit of Neuromuscular and Neurodegenerative Disorders Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital IRCCS 00146 Rome Italy

Citace poskytuje Crossref.org

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258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

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