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1 . Academic Journal
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
저자
by
Walaa Karazi
;
Renata S. Scalco
;
Mads G. Stemmerik
;
Nicoline Løkken
;
Alejandro Lucia
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
저자
by
Tomàs Pinós
;
Antoni L. Andreu
;
Claudio Bruno
;
Georgios M. Hadjigeorgiou
;
Ronald G. Haller
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Open Access (DOAJ)
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Web of Science
Scopus
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7 . Academic Journal
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
저자
by
Inés García-Consuegra
;
Sara Asensio-Peña
;
Rocío Garrido-Moraga
;
Tomàs Pinós
;
Cristina Domínguez-González
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 9, p 4650 (2022)
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7 . Academic Journal
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
저자
by
Mónica Villarreal-Salazar
;
Astrid Brull
;
Gisela Nogales-Gadea
;
Antoni L. Andreu
;
Miguel A. Martín
, et al.
소스
Genes, Vol 13, Iss 1, p 74 (2021)
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7 . Academic Journal
Absence of p.R50X Pygm read-through in McArdle disease cellular models
저자
by
Guillermo Tarrasó
;
Alberto Real-Martinez
;
Marta Parés
;
Lídia Romero-Cortadellas
;
Laura Puigros
, et al.
소스
Disease Models & Mechanisms, Vol 13, Iss 1 (2020)
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7 . Academic Journal
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
저자
by
Alfredo Santalla
;
Gisela Nogales-Gadea
;
Alberto Blázquez Encinar
;
Irene Vieitez
;
Adrian González-Quintana
, et al.
소스
BMC Genomics, Vol 18, Iss S8, Pp 39-47 (2017)
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7 . Academic Journal
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models
저자
by
Aitana Almodóvar-Payá
;
Mónica Villarreal-Salazar
;
Noemí de Luna
;
Gisela Nogales-Gadea
;
Alberto Real-Martínez
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 24, p 9621 (2020)
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7 . Academic Journal
Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro
저자
by
Noemí de Luna
;
Astrid Brull
;
Josep Maria Guiu
;
Alejandro Lucia
;
Miguel Angel Martin
, et al.
소스
Disease Models & Mechanisms, Vol 8, Iss 5, Pp 467-472 (2015)
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7 .
Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia
저자
by
Sandra Walsh
;
Antoni L. Andreu
;
Magda Campins
;
Antonio San-Jose
;
Anton Ussi
, et al.
소스
PLoS ONE, Vol 16, Iss 7, p e0255141 (2021)
PLoS ONE
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Scientia
Digital.CSIC. Repositorio Institucional del CSIC
instname
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7 .
Missense mutations have unexpected consequences: The McArdle disease paradigm
저자
by
Alejandro Lucia
;
Antoni L. Andreu
;
Jaume Coll-Cantí
;
Adrián González-Quintana
;
Inés García-Consuegra
, et al.
소스
Human Mutation
. 39:1338-1343
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