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Select item 107893321.

Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life

Walaa Karazi, Jacqueline Coppers, Daphne Maas, Edith Cup, Bart Bloemen, Nicole Voet, Jan T. Groothuis, Tomàs Pinós, Ramon Marti Seves, Ros Quinlivan, Nicoline Løkken, John Vissing, Salman Bhai, Andrew Wakelin, Stacey Reason, Nicol C. Voermans

J Neuromuscul Dis. 2024; 11(1): 103–116. Prepublished online 2023 Dec 15. Published online 2024 Jan 2. doi: 10.3233/JND-230027

PMCID:: PMC10789332

Article PDF–1.8M

Select item 105523322.

A Case Report of McArdle Disease Diagnosed Following Statin-Induced Myositis

João S Teles, Catarina T Ramos, Beatriz M Almeida, Anabela V Sousa

Cureus. 2023 Sep; 15(9): e44701. Published online 2023 Sep 5. doi: 10.7759/cureus.44701

PMCID:: PMC10552332

Article PDF–384K

Select item 105251993.

Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene

Victoria Cerrada, Inés García-Consuegra, Joaquín Arenas, M. Esther Gallardo

Biomedicines. 2023 Sep; 11(9): 2434. Published online 2023 Aug 31. doi: 10.3390/biomedicines11092434

PMCID:: PMC10525199

Article PDF–2.1M

Select item 103673204.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

Orphanet J Rare Dis. 2023; 18: 210. Published online 2023 Jul 25. doi: 10.1186/s13023-023-02825-z

PMCID:: PMC10367320

Article PDF–1.1M

Select item 103281455.

Anesthetic Management of a Patient With McArdle Disease: A Case Report and Review of the Literature

Rohini Kotha, Anastasia Jones, Gregory T Girgenti, Daniel A Nahrwold

Cureus. 2023 Jun; 15(6): e40092. Published online 2023 Jun 7. doi: 10.7759/cureus.40092

PMCID:: PMC10328145

Article PDF–318K

Select item 102807526.

Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio

Ramón Vidal-Sanahuja, Carlos I. Ortez-González, Andrés Nascimento-Osorio, Jaume Colomer-Oferil

Rev Neurol. 2022; 75(6): 129–136. Spanish. Published online 2022 Sep 16. doi: 10.33588/rn.7506.2022212

PMCID:: PMC10280752

Article PDF–1.3M

Select item 100998557.

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

Carlos Rodriguez‐Lopez, Alfredo Santalla, Pedro. L Valenzuela, Alberto Real‐Martínez, Mónica Villarreal‐Salazar, Irene Rodriguez‐Gomez, Tomàs Pinós, Ignacio Ara, Alejandro Lucia

J Physiol. 2023 Feb 1; 601(3): 551–566. Published online 2022 Nov 29. doi: 10.1113/JP283743

PMCID:: PMC10099855

Article PDF–2.3M

Select item 100232318.

Personalized Treatment of Periodontitis in a Patient with McArdle's Disease: The Benefits from Probiotics

Salvatore Cannizzaro, Carolina Maiorani, Andrea Scribante, Andrea Butera

Case Rep Dent. 2023; 2023: 5080384. Published online 2023 Mar 10. doi: 10.1155/2023/5080384

PMCID:: PMC10023231

Article PDF–6.0M

Select item 99648019.

Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease

Nicoline Løkken, Nicol C. Voermans, Linda K. Andersen, Walaa Karazi, Stacey L. Reason, Heidi Zweers, Gustav Wilms, Alfredo Santalla, Edward Susanibar, Alejandro Lucia, John Vissing

Nutrients. 2023 Feb; 15(4): 843. Published online 2023 Feb 7. doi: 10.3390/nu15040843

PMCID:: PMC9964801

Article PDF–1.2M

Select item 994975310.

Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease

Ana P Urena Neme, Carol Fernandez Hazim, Gustavo Duarte, Michael Victoria Guerrero, Miguel A Rodriguez Guerra

Cureus. 2023 Jan; 15(1): e34160. Published online 2023 Jan 24. doi: 10.7759/cureus.34160

PMCID:: PMC9949753

Article PDF–101K

Select item 975857211.

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

M. Villarreal-Salazar, A. Santalla, A. Real-Martínez, G. Nogales-Gadea, P.L. Valenzuela, C. Fiuza-Luces, A.L. Andreu, J.C. Rodríguez-Aguilera, M.A. Martín, J. Arenas, J. Vissing, A. Lucia, T.O. Krag, T. Pinós

Mol Metab. 2022 Dec; 66: 101648. Published online 2022 Nov 28. doi: 10.1016/j.molmet.2022.101648

PMCID:: PMC9758572

Article PDF–9.5M

Select item 969253112.

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

María del Carmen Ortuño-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Inés García-Consuegra, Camille Laberthonnière, Mégane Delourme, Rafael Garesse, Joaquín Arenas, Carla Fuster García, Gema García García, José María Millán, Frédérique Magdinier, María Esther Gallardo

Int J Mol Sci. 2022 Nov; 23(22): 13964. Published online 2022 Nov 12. doi: 10.3390/ijms232213964

PMCID:: PMC9692531

Article PDF–5.9M

Select item 930888913.

McArdle disease in a patient with anorexia nervosa: a case report

Riccardo Dalle Grave, Enrico Patacca, Maddalena Conti, Fabio Soave, Laura Dametti, Anna Dalle Grave, Simona Calugi

Eat Weight Disord. 2022; 27(8): 3793–3796. Published online 2022 Jul 24. doi: 10.1007/s40519-022-01451-1

PMCID:: PMC9308889

Article PDF–434K

Select item 930413414.

No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study

Nicoline Løkken, Jesper H. Storgaard, Karoline L. Revsbech, Nicol C. Voermans, Gerrit Van Hall, John Vissing, Mette C. Ørngreen

J Inherit Metab Dis. 2022 May; 45(3): 502–516. Published online 2022 Feb 20. doi: 10.1002/jimd.12484

PMCID:: PMC9304134

Article PDF–2.5M

Select item 910011715.

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín

Int J Mol Sci. 2022 May; 23(9): 4650. Published online 2022 Apr 22. doi: 10.3390/ijms23094650

PMCID:: PMC9100117

Article PDF–814K

Select item 901455216.

McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes

Christopher M Nash, Nabha Shetty, Ashley Miller, Kyle McCoy

Obstet Med. 2022 Mar; 15(1): 40–44. Published online 2021 May 27. doi: 10.1177/1753495X211016159

PMCID:: PMC9014552

Article PDF–386K

Select item 900433417.

A novel compound heterozygous mutation in PYGM gene associated with McArdle’s disease

Salvatore Iacono, Antonino Lupica, Vincenzo Di Stefano, Eugenia Borgione, Filippo Brighina

Acta Myol. 2022 Mar; 41(1): 37–40. Published online 2022 Mar 31. doi: 10.36185/2532-1900-067

PMCID:: PMC9004334

Article PDF–153K

Select item 895890818.

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

Amanda Thomas-Wilson, Avinash V. Dharmadhikari, Jonas J. Heymann, Vaidehi Jobanputra, Salvatore DiMauro, Michio Hirano, Ali B. Naini, Mythily Ganapathi

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006173. doi: 10.1101/mcs.a006173

PMCID:: PMC8958908

Article PDF–627K

Select item 891692019.

Acute Kidney Injury Requiring Dialysis in McArdle Disease: A Case Report of a Rarely Seen Presentation

Hugo Veiga, Rita Gouveia, Beatriz Xavier, Patrícia Lourenço

Cureus. 2022 Feb; 14(2): e22055. Published online 2022 Feb 9. doi: 10.7759/cureus.22055

PMCID:: PMC8916920

Article PDF–78K

Select item 877468520.

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Mónica Villarreal-Salazar, Astrid Brull, Gisela Nogales-Gadea, Antoni L. Andreu, Miguel A. Martín, Joaquín Arenas, Alfredo Santalla, Alejandro Lucia, John Vissing, Thomas O. Krag, Tomàs Pinós

Genes (Basel) 2022 Jan; 13(1): 74. Published online 2021 Dec 28. doi: 10.3390/genes13010074

PMCID:: PMC8774685

Article PDF–365K

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