Works matching McArdle's disease

Results: 236

Glycogen storage disease type V (Mc Ardle's disease): A report on three cases.

Published in:

Neurology India, 2011, v. 59, n. 6, p. 884, doi. 10.4103/0028-3886.91370

By:

Krishnamoorthy, Naveen;
Santosh, Vani;
Yasha, T. C.;
Mahadevan, Anita;
Shankar, S. K.;
Jethwani, Dilip;
Taly, A. B.;
Bhanu, K.;
Gayathri, N.

Publication type:

Article

Exercise testing‐based algorithms to diagnose McArdle disease and MAD defects.

Published in:

Acta Neurologica Scandinavica, 2018, v. 138, n. 4, p. 301, doi. 10.1111/ane.12957

By:

Noury, J.‐B.;
Zagnoli, F.;
Carré, J.‐L.;
Drouillard, I.;
Petit, F.;
Le Maréchal, C.;
Marcorelles, P.;
Rannou, F.

Publication type:

Article

Resistance (Weight Lifting) Training in an Adolescent With McArdle Disease.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 6, p. 802, doi. 10.1177/0883073812451328

By:

García-Benítez, Sergio;
Fleck, Steven J.;
Naclerio, Fernando;
Martín, Miguel Angel;
Lucia, Alejandro

Publication type:

Article

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 7, p. 2048, doi. 10.1093/brain/aws141

By:

Nogales-Gadea, Gisela;
Pinós, Tomàs;
Lucia, Alejandro;
Arenas, Joaquín;
Camara, Yolanda;
Brull, Astrid;
de Luna, Noemí;
Martín, Miguel A.;
Garcia-Arumí, Elena;
Martí, Ramon;
Andreu, Antoni L.

Publication type:

Article

McArdle Disease and Exercise Physiology.

Published in:

Biology (2079-7737), 2014, v. 3, n. 1, p. 157, doi. 10.3390/biology3010157

By:

Yu Kitaoka

Publication type:

Article

Pre- and peripartal management of a woman with McArdle disease: a case report.

Published in:

Gynecological Endocrinology, 2018, v. 34, n. 9, p. 736, doi. 10.1080/09513590.2018.1451507

By:

Stopp, Tina;
Feichtinger, Michael;
Eppel, Wolfgang;
Stulnig, Thomas M.;
Husslein, Peter;
Göbl, Christian

Publication type:

Article

Myophosphorylase deficiency (McArdle disease) in a patient with normal pregnancy and normal pregnancy outcome.

Published in:

2011

By:

Giles, Warwick;
Maher, Catherine

Publication type:

Case Study

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031718

By:

Nogales-Gadea, Gisela;
Consuegra-García, Inés;
Rubio, Juan C.;
Arenas, Joaquin;
Cuadros, Marc;
Camara, Yolanda;
Torres-Torronteras, Javier;
Fiuza-Luces, Carmen;
Lucia, Alejandro;
Martín, Miguel A.;
García-Arumí, Elena;
Andreu, Antoni L.

Publication type:

Article

Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease.

Published in:

2014

By:

Spyropoulos, George;
Kratimenos, Panagiotis;
Mcinnes, Andrew D.;
DeGroote, Richard J.;
Koutroulis, Ioannis

Publication type:

Case Study

MCARDLE'S DISEASE: DIAGNOSTIC APPROACH AFTER CLINICAL SYMPTOMS OF VIGOROUS EXERCISE INTOLERANCE IN A SNOWBOARDER IN ALPES.

Published in:

Acta Reumatológica Portuguesa, 2019, p. 139

By:

Ganhão, Sara;
Mariz, Eva;
Melo-Pires, Manuel;
Taipa, Ricardo;
Costa, Lúcia

Publication type:

Article

Low versus high carbohydrates in the diet of the world-class athlete: insights from McArdle's disease.

Published in:

Journal of Physiology, 2017, v. 595, n. 9, p. 2991, doi. 10.1113/JP274060

By:

Nogales‐Gadea, Gisela;
Santalla, Alfredo;
Arenas, Joaquín;
Martín, Miguel A.;
Morán, María;
Lucia, Alejandro

Publication type:

Article

Successful Roux-en-Y Gastric Bypass in a Patient with McArdle Disease.

Published in:

2017

By:

Ross, Meredith;
Goldner, Whitney

Publication type:

Letter

Cytosolic pH buffering during exercise and recovery in skeletal muscle of patients with McArdle's disease.

Published in:

2009

By:

Kemp, Graham J.;
Tonon, Caterina;
Malucelli, Emil;
Testa, Claudia;
Liava, Alexandra;
Manners, David;
Trevisi, Enrico;
Martinuzzi, Andrea;
Barbiroli, Bruno;
Lodi, Raffaele

Publication type:

journal article

Unique exercise Lactate profile in Muscle phosphofructokinase deficiency (tarui disease); difference Compared with Mcardle disease.

Published in:

Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00082

By:

Piirilä, Päivi;
Similä, Minna E.;
Palmio, Johanna;
Wuorimaa, Tomi;
Ylikallio, Emil;
Sandell, Satu;
Haapalahti, Petri;
Uotila, Lasse;
Tyynismaa, Henna;
Udd, Bjarne;
Auranen, Mari;
Subramony, S. H.;
Gilchrist, James

Publication type:

Article

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

Published in:

Genes, 2022, v. 13, n. 1, p. 74, doi. 10.3390/genes13010074

By:

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

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13964, doi. 10.3390/ijms232213964

By:

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

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4650, doi. 10.3390/ijms23094650

By:

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

Publication type:

Article

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 23, p. 5919, doi. 10.3390/ijms20235919

By:

Llavero, Francisco;
Arrazola Sastre, Alazne;
Luque Montoro, Miriam;
Gálvez, Patricia;
Lacerda, Hadriano M;
Parada, Luis A.;
Zugaza, José Luis

Publication type:

Article

Beneficios de la dieta cetogénica en la enfermedad de McArdle: empoderando a un paciente.

Published in:

Metas de Enfermería, 2018, v. 21, n. 8, p. 28

By:

Soria, Héctor Nafría;
Portillo, Rocío Campos del;
Moreno-España, José

Publication type:

Article

A BRIEF REVIEW ON MCARDLE DISEASE (GLYCOGEN STORAGE DISEASE TYPE V).

Published in:

Pharma Science Monitor, 2014, v. 5, n. 3, p. 110

By:

Sharma, Neeraj;
Suva, Manoj A.

Publication type:

Article

Enfermedad de McArdle (enfermedad de depósito de glucógeno tipo V).

Published in:

Medicina Interna de Mexico, 2024, v. 40, n. 8, p. 542, doi. 10.24245/mim.v40iSeptiembre.8765

By:

Hernández López, Agustín;
Zamora Falcón, Paul A.;
Guízar García, Luis A.

Publication type:

Article

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S23, doi. 10.1002/mus.880181407

By:

Tsujino, Seiichi;
Shanske, Sara;
Nonaka, Ikuya;
DiMauro, Salvatore

Publication type:

Article

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease.

Published in:

Clinical Medicine & Research, 2021, v. 19, n. 2, p. 90, doi. 10.3121/cmr.2021.1641

By:

Hamadeh, Majdi;
Nasrallah, Khalil;
Ajami, Zeinab;
Zeaiter, Rahil;
Abbas, Layan;
Hamadeh, Samih;
Fares, Jawad

Publication type:

Article

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

Published in:

Biomedicines, 2023, v. 11, n. 9, p. 2434, doi. 10.3390/biomedicines11092434

By:

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

Publication type:

Article

McArdle's disease and anaesthesia: Case reports. Review of potential problems and association with malignant hyperthermia.

Published in:

Acta Anaesthesiologica Scandinavica, 2005, v. 49, n. 8, p. 1077, doi. 10.1111/j.1399-6576.2005.00755.x

By:

Bollig, G.;
Mohr, S.;
Ræder, J.

Publication type:

Article

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.

Published in:

Muscle & Nerve, 2003, v. 27, n. 1, p. 105, doi. 10.1002/mus.10261

By:

Deschauer, Marcus;
Hertel, Kathrin;
Zierz, Stephan

Publication type:

Article

McArdle's disease presenting with asymmetric, late-onset arm weakness.

Published in:

2000

By:

Wolfe, Gil I.;
Baker, Noel S.;
Haller, Ronald G.;
Burns, Dennis K.;
Barohn, Richard J.;
Wolfe, G I;
Baker, N S;
Haller, R G;
Burns, D K;
Barohn, R J

Publication type:

journal article

A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Published in:

2000

By:

Rubio, Juan C.;
Martín, Miguel A.;
Campos, Yolanda;
Auciello, Raffaella;
Cabello, Ana;
Arenas, Joaquín;
Rubio, J C;
Martín, M A;
Campos, Y;
Auciello, R;
Cabello, A;
Arenas, J

Publication type:

journal article

Molecular diagnosis of McArdle disease using whole-exome sequencing.

Published in:

Experimental & Therapeutic Medicine, 2021, v. 22, n. 3, p. N.PAG, doi. 10.3892/etm.2021.10461

By:

Kang, Ju-Hyung;
Park, Jun-Hyung;
Park, Jin-Soon;
Lee, Seong-Kyu;
Lee, Sunghoon;
Baik, Haing-Woon

Publication type:

Article

Oxygen consumption is increased relative to work rate in patients with McArdle's disease.

Published in:

European Journal of Clinical Investigation, 2004, v. 34, n. 11, p. 731, doi. 10.1111/j.1365-2362.2004.01423.x

By:

O'Dochartaigh, C. S.;
Ong, H. Y.;
Lovell, S. M.;
Riley, M. S.;
Patterson, V. H.;
Young, I. S.;
Nicholls, D. P.

Publication type:

Article

McArdle disease: a case report and review.

Published in:

International Medical Case Reports Journal, 2012, v. 5, p. 1, doi. 10.2147/IMCRJ.S28664

By:

Leite, Alberto;
Oliveira, Narciso;
Rocha, Manuela

Publication type:

Article

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

Published in:

BMC Genomics, 2017, v. 18, p. 39, doi. 10.1186/s12864-017-4188-2

By:

Santalla, Alfredo;
Nogales-Gadea, Gisela;
Blázquez Encinar, Alberto;
Vieitez, Irene;
González-Quintana, Adrian;
Serrano-Lorenzo, Pablo;
García Consuegra, Inés;
Asensio, Sara;
Ballester-Lopez, Alfonsina;
Pintos-Morell, Guillem;
Coll-Cantí, Jaume;
Pareja-Galeano, Helios;
Díez-Bermejo, Jorge;
Pérez, Margarita;
Andreu, Antoni L.;
Pinós, Tomàs;
Arenas, Joaquín;
Martín, Miguel A.;
Lucia, Alejandro

Publication type:

Article

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

Published in:

Nutrients, 2023, v. 15, n. 4, p. 843, doi. 10.3390/nu15040843

By:

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

Publication type:

Article

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

Published in:

Obstetric Medicine (1753-495X), 2022, v. 15, n. 1, p. 40, doi. 10.1177/1753495X211016159

By:

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

Publication type:

Article

Mc Ardle's disease (glycogen storage disease type V) and anesthesia - a case report and review of the literature.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 9, p. 817, doi. 10.1111/pan.12164

By:

Bollig, Georg

Publication type:

Article

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Published in:

2020

By:

Scalco, Renata S.;
Lucia, Alejandro;
Santalla, Alfredo;
Martinuzzi, Andrea;
Vavla, Marinela;
Reni, Gianluigi;
Toscano, Antonio;
Musumeci, Olimpia;
Voermans, Nicol C.;
Kouwenberg, Carlyn V.;
Laforêt, Pascal;
San-Millán, Beatriz;
Vieitez, Irene;
Siciliano, Gabriele;
Kühnle, Enrico;
Trost, Rebeca;
Sacconi, Sabrina;
Stemmerik, Mads G.;
Durmus, Hacer;
Kierdaszuk, Biruta

Publication type:

journal article

Anesthesia Considerations in a Patient With McArdle Disease: A Case Report.

Published in:

AANA Journal, 2011, v. 79, n. 3, p. 243

By:

Choleva, Abbie J.

Publication type:

Article

A High Creatine Kinase Concentration Might Be a Sign of McArdle Disease in Patient With Type 1 Diabetes.

Published in:

Biochemistry Insights, 2019, v. 12, p. N.PAG, doi. 10.1177/1178626419861407

By:

Ugur, Kader;
Aydogan, Yakup;
Akgun, Abdurrahman;
Aydin, Suleyman

Publication type:

Article

An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia?

Published in:

2020

By:

Chocair, Pedro Renato;
Mohrbacher, Sara;
de Menezes Neves, Precil Diego Miranda;
Pereira, Leonardo Victor Barbosa;
Oliveira, Erico Souza;
Nardotto, Luciana Loureiro;
Bales, Alessandra Martins;
Sato, Victor Augusto Hamamoto;
Silva, Sabrina Neves;
Ferreira, Bernadete Maria Coelho;
Cuvello-Neto, Américo Lourenço

Publication type:

journal article

Analysis of spectrum and frequencies of mutations in McArdle disease.

Published in:

Journal of Neurology, 2007, v. 254, n. 6, p. 797, doi. 10.1007/s00415-006-0447-x

By:

Deschauer, M.;
Morgenroth, A.;
Joshi, P. R.;
Gläser, D.;
Chinnery, P. F.;
Aasly, J.;
Schreiber, H.;
Knape, M.;
Zierz, S.;
Vorgerd, M.

Publication type:

Article

Cardiac comorbidities in McArdle disease: case report and systematic review.

Published in:

Neurological Sciences, 2024, v. 45, n. 10, p. 4757, doi. 10.1007/s10072-024-07600-x

By:

Hoxhaj, Domeniko;
Vadi, Gabriele;
Bianchi, Lorenzo;
Fontanelli, Lorenzo;
Torri, Francesca;
Siciliano, Gabriele;
Ricci, Giulia

Publication type:

Article

McArdle Disease vs. Stiff-Person Syndrome: A Case Report Highlighting the Similarities Between Two Rare and Distinct Disorders.

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.529985

By:

Godbe, Kerilyn;
Malaty, Giovanni;
Wenzel, Alyssa;
Nazeer, Sahana;
Grider, Douglas J.;
Kinsey, Adrienne

Publication type:

Article

Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).

Published in:

Clinical Rheumatology, 2019, v. 38, n. 10, p. 2941, doi. 10.1007/s10067-019-04572-8

By:

Üsküdar Cansu, Döndü;
Erdoğan, Bahattin;
Korkmaz, Cengiz

Publication type:

Article

Glycogenosis Type V (McArdle’s Disease) Mimicking Atypical Myositis.

Published in:

Clinical Rheumatology, 2001, v. 20, n. 1, p. 57, doi. 10.1007/s100670170105

By:

Horneff, G.;
Paetzke, I.;
Neuen-Jacob, E.

Publication type:

Article

Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.

Published in:

2024

By:

Stalter, Johannes;
Gies, Ursula;
Mathys, Christian;
Witt, Karsten

Publication type:

Case Study

McArdle's disease: Molecular genetics and metabolic consequences of the phenotype.

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S18, doi. 10.1002/mus.880181406

By:

Beynon, Robert J.;
Bartram, Clare;
Hopkins, Pam;
Toescu, Veronica;
Gibson, Henry;
Phoenix, Joanne;
Edwards, Richard H. T.

Publication type:

Article

McArdle's disease and gout.

Published in:

Muscle & Nerve, 1992, v. 15, n. 7, p. 822, doi. 10.1002/mus.880150711

By:

Puig, Juan G.;
de Miguel, Eugenio;
Mateos, Felícitas A.;
Miranda, Ma Eugenia;
Romera, Nuria M.;
Espinosa, Ana;
Gijón, Juan

Publication type:

Article

Glucose infusion abolishes the excessive ATP degradation in working muscles of a patient with McArdle's disease.

Published in:

Muscle & Nerve, 1990, v. 13, n. 7, p. 618, doi. 10.1002/mus.880130710

By:

Mineo, Ikuo;
Kono, Norio;
Yamada, Yuya;
Hara, Naoko;
Kiyokawa, Hiroaki;
Hamaguchi, Tomoya;
Kawachi, Masanori;
Yamasaki, Tomoyuki;
Nakajima, Hiromu;
Kuwajima, Masamichi;
Tarui, Seiichiro

Publication type:

Article

Carbohydrate Ingestion before Exercise for Individuals with McArdle Disease: Survey Evidence of Implementation and Perception in Real-World Settings.

Published in:

Nutrients, 2024, v. 16, n. 10, p. 1423, doi. 10.3390/nu16101423

By:

Torrens, Sam L.;
Parr, Evelyn B.;
McNulty, Craig;
Ross, Lynda;
MacLaughlin, Helen;
Robergs, Robert A.

Publication type:

Article

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Published in:

2020

By:

Pinós, Tomàs;
Andreu, Antoni L.;
Bruno, Claudio;
Hadjigeorgiou, Georgios M.;
Haller, Ronald G.;
Laforêt, Pascal;
Lucía, Alejandro;
Martín, Miguel A.;
Martinuzzi, Andrea;
Navarro, Carmen;
Oflazer, Piraye;
Pouget, Jean;
Quinlivan, Ros;
Sacconi, Sabrina;
Scalco, Renata S.;
Toscano, Antonio;
Vissing, John;
Vorgerd, Matthias;
Wakelin, Andrew;
Martí, Ramon

Publication type:

journal article