Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2006 4
2007 10
2008 6
2009 5
2010 2
2012 5
2013 2
2014 5
2015 10
2016 7
2017 4
2018 7
2019 2
2020 5
2021 3
2022 5
2023 6
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

77 results

Results by year

Filters applied: . Clear all
Page 1
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Villarreal-Salazar M, Santalla A, Real-Martínez A, Nogales-Gadea G, Valenzuela PL, Fiuza-Luces C, Andreu AL, Rodríguez-Aguilera JC, Martín MA, Arenas J, Vissing J, Lucia A, Krag TO, Pinós T. Villarreal-Salazar M, et al. Among authors: lucia a. Mol Metab. 2022 Dec;66:101648. doi: 10.1016/j.molmet.2022.101648. Epub 2022 Nov 28. Mol Metab. 2022. PMID: 36455789 Free PMC article.
BACKGROUND: McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. ...CONCLUSIONS: In McArdle disease, severe muscle oxidative capacity impairment could also be explained by a disruption of the mitoc …
BACKGROUND: McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. …
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
Villarreal-Salazar M, Brull A, Nogales-Gadea G, Andreu AL, Martín MA, Arenas J, Santalla A, Lucia A, Vissing J, Krag TO, Pinós T. Villarreal-Salazar M, et al. Among authors: lucia a. Genes (Basel). 2021 Dec 28;13(1):74. doi: 10.3390/genes13010074. Genes (Basel). 2021. PMID: 35052414 Free PMC article. Review.
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. ...In the present work, we describe the existing in vitro and in
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, whi
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Santos-Lozano A, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G. Núñez-Manchón J, et al. Among authors: lucia a. J Inherit Metab Dis. 2018 Nov;41(6):1027-1035. doi: 10.1007/s10545-018-0203-2. Epub 2018 Jun 20. J Inherit Metab Dis. 2018. PMID: 29926259
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. ...Eighty-one relatives of McArdle patients (among a total of 16 different families) were studied. ...
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphor
McArdle disease: a unique study model in sports medicine.
Santalla A, Nogales-Gadea G, Ørtenblad N, Brull A, de Luna N, Pinós T, Lucia A. Santalla A, et al. Among authors: lucia a. Sports Med. 2014 Nov;44(11):1531-44. doi: 10.1007/s40279-014-0223-5. Sports Med. 2014. PMID: 25028051 Review.
McArdle disease is arguably the paradigm of exercise intolerance in humans. ...
McArdle disease is arguably the paradigm of exercise intolerance in humans. ...
Glycogen Storage Disease Type V.
Martín MA, Lucia A, Arenas J, Andreu AL. Martín MA, et al. Among authors: lucia a. 2006 Apr 19 [updated 2019 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Apr 19 [updated 2019 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301518 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. ...
CLINICAL CHARACTERISTICS: Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise i …
Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.
Løkken N, Voermans NC, Andersen LK, Karazi W, Reason SL, Zweers H, Wilms G, Santalla A, Susanibar E, Lucia A, Vissing J. Løkken N, et al. Among authors: lucia a. Nutrients. 2023 Feb 7;15(4):843. doi: 10.3390/nu15040843. Nutrients. 2023. PMID: 36839201 Free PMC article.
The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle disease (glycogen storage disease type V), and despite the absence of strong scientific evidence of the LCKD's benefits …
The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals …
Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.
Ortuño-Costela MDC, Rodríguez-Mancera N, García-López M, Zurita-Díaz F, Moreno-Izquierdo A, Lucía A, Martín MÁ, Garesse R, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: lucia a. Stem Cell Res. 2017 Aug;23:188-192. doi: 10.1016/j.scr.2017.07.020. Epub 2017 Jul 28. Stem Cell Res. 2017. PMID: 28925366 Free article.
Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p.Arg50Ter, in the PYGM gene. ...
Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p …
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A. Santalla A, et al. Among authors: lucia a. BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2. BMC Genomics. 2017. PMID: 29143597 Free PMC article.
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). ...Finally, there is no association between PYGM g …
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of Januar …
A New Condition in McArdle Disease: Poor Bone Health-Benefits of an Active Lifestyle.
Rodríguez-Gómez I, Santalla A, Díez-Bermejo J, Munguía-Izquierdo D, Alegre LM, Nogales-Gadea G, Arenas J, Martín MÁ, Lucía A, Ara I. Rodríguez-Gómez I, et al. Among authors: lucia a. Med Sci Sports Exerc. 2018 Jan;50(1):3-10. doi: 10.1249/MSS.0000000000001414. Med Sci Sports Exerc. 2018. PMID: 29251685
We compared these variables between McArdle patients and age-/sex-matched healthy controls and assessed their potential association with physical activity levels in patients. ...CONCLUSIONS: We report on a previously undescribed condition in McArdle patients, poor b …
We compared these variables between McArdle patients and age-/sex-matched healthy controls and assessed their potential association w …
77 results