PMC Links for Books (Select 1499022) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 71737242.

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

Rosaline Quinlivan, Andrea Martinuzzi, Benedikt Schoser, Cochrane Neuromuscular Group

Cochrane Database Syst Rev. 2014 Nov; 2014(11): CD003458. Published online 2014 Nov 12. doi: 10.1002/14651858.CD003458.pub5

PMCID:: PMC7173724

Abstract Article PDF–324K

Select item 61863743.

Resistance Exercise Training in McArdle Disease: Myth or Reality?

Aleksandra Pietrusz, Renata S. Scalco, Ros Quinlivan

Case Rep Neurol Med. 2018; 2018: 9658251. Published online 2018 Sep 30. doi: 10.1155/2018/9658251

PMCID:: PMC6186374

Abstract Article PDF–842K

Select item 59456724.

Clinical utility gene card for McArdle disease

Rhonda L. Taylor, Mark Davis, Emma Turner, Astrid Brull, Tomás Pinos, Macarena Cabrera, Kristen J. Nowak

Eur J Hum Genet. 2018 May; 26(5): 758–764. Published online 2018 Jan 25. doi: 10.1038/s41431-017-0070-6

PMCID:: PMC5945672

Abstract Article PDF–375K

Select item 56884715.

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

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

BMC Genomics. 2017; 18(Suppl 8): 819. Published online 2017 Nov 14. doi: 10.1186/s12864-017-4188-2

PMCID:: PMC5688471

Abstract Article PDF–280K

Select item 51316106.

McArdle Disease Misdiagnosed as Meningitis

Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan

Am J Case Rep. 2016; 17: 905–908. Published online 2016 Nov 30. doi: 10.12659/AJCR.900967

PMCID:: PMC5131610

Abstract Article PDF–112K

Select item 45221537.

Rhabdomyolysis: a genetic perspective

Renata Siciliani Scalco, Alice R Gardiner, Robert DS Pitceathly, Edmar Zanoteli, Jefferson Becker, Janice L Holton, Henry Houlden, Heinz Jungbluth, Ros Quinlivan

Orphanet J Rare Dis. 2015; 10: 51. Published online 2015 May 2. doi: 10.1186/s13023-015-0264-3

PMCID:: PMC4522153

Abstract Article PDF–1.4M

Select item 44158988.

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

Noemí de Luna, Astrid Brull, Josep Maria Guiu, Alejandro Lucia, Miguel Angel Martin, Joaquin Arenas, Ramon Martí, Antoni L. Andreu, Tomàs Pinós

Dis Model Mech. 2015 May 1; 8(5): 467–472. doi: 10.1242/dmm.020230

PMCID:: PMC4415898

Abstract Article

Select item 42631739.

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits

Alfredo Santalla, Diego Munguía-Izquierdo, Lidia Brea-Alejo, Itziar Pagola-Aldazábal, Jorge Díez-Bermejo, Steven J. Fleck, Ignacio Ara, Alejandro Lucia

Front Aging Neurosci. 2014; 6: 334. Published online 2014 Dec 11. doi: 10.3389/fnagi.2014.00334

PMCID:: PMC4263173

Abstract Article PDF–826K

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