Etiology
McDonald CM,
Marbán E,
Hendrix S,
Hogan N,
Ruckdeschel Smith R,
Eagle M,
Finkel RS,
Tian C,
Janas J,
Harmelink MM,
Varadhachary AS,
Taylor MD,
Hor KN,
Mayer OH,
Henricson EK,
Furlong P,
Ascheim DD,
Rogy S,
Williams P,
Marbán L;
HOPE-2 Study Group
Lancet
2022 Mar 12;399(10329):1049-1058.
doi: 10.1016/S0140-6736(22)00012-5.
PMID: 35279258
Ortiz-Genga MF,
Cuenca S,
Dal Ferro M,
Zorio E,
Salgado-Aranda R,
Climent V,
Padrón-Barthe L,
Duro-Aguado I,
Jiménez-Jáimez J,
Hidalgo-Olivares VM,
García-Campo E,
Lanzillo C,
Suárez-Mier MP,
Yonath H,
Marcos-Alonso S,
Ochoa JP,
Santomé JL,
García-Giustiniani D,
Rodríguez-Garrido JL,
Domínguez F,
Merlo M,
Palomino J,
Peña ML,
Trujillo JP,
Martín-Vila A,
Stolfo D,
Molina P,
Lara-Pezzi E,
Calvo-Iglesias FE,
Nof E,
Calò L,
Barriales-Villa R,
Gimeno-Blanes JR,
Arad M,
García-Pavía P,
Monserrat L
J Am Coll Cardiol
2016 Dec 6;68(22):2440-2451.
doi: 10.1016/j.jacc.2016.09.927.
PMID: 27908349
Byrne S,
Dionisi-Vici C,
Smith L,
Gautel M,
Jungbluth H
Orphanet J Rare Dis
2016 Feb 29;11:21.
doi: 10.1186/s13023-016-0399-x.
PMID: 26927810Free PMC Article
Schröder R,
Vrabie A,
Goebel HH
J Cell Mol Med
2007 May-Jun;11(3):416-26.
doi: 10.1111/j.1582-4934.2007.00057.x.
PMID: 17635637Free PMC Article
Oldfors A
Neuromuscul Disord
2007 May;17(5):355-67.
Epub 2007 Apr 16
doi: 10.1016/j.nmd.2007.02.008.
PMID: 17434305
Diagnosis
Gao Y,
Peng L,
Zhao C
Mol Cell Biochem
2024 Feb;479(2):393-417.
Epub 2023 Apr 20
doi: 10.1007/s11010-023-04735-x.
PMID: 37079208
Beecher G,
Fleming MD,
Liewluck T
Muscle Nerve
2022 Apr;65(4):374-390.
Epub 2022 Jan 5
doi: 10.1002/mus.27474.
PMID: 34985130
Ortiz-Genga MF,
Cuenca S,
Dal Ferro M,
Zorio E,
Salgado-Aranda R,
Climent V,
Padrón-Barthe L,
Duro-Aguado I,
Jiménez-Jáimez J,
Hidalgo-Olivares VM,
García-Campo E,
Lanzillo C,
Suárez-Mier MP,
Yonath H,
Marcos-Alonso S,
Ochoa JP,
Santomé JL,
García-Giustiniani D,
Rodríguez-Garrido JL,
Domínguez F,
Merlo M,
Palomino J,
Peña ML,
Trujillo JP,
Martín-Vila A,
Stolfo D,
Molina P,
Lara-Pezzi E,
Calvo-Iglesias FE,
Nof E,
Calò L,
Barriales-Villa R,
Gimeno-Blanes JR,
Arad M,
García-Pavía P,
Monserrat L
J Am Coll Cardiol
2016 Dec 6;68(22):2440-2451.
doi: 10.1016/j.jacc.2016.09.927.
PMID: 27908349
Clarke SL,
Bowron A,
Gonzalez IL,
Groves SJ,
Newbury-Ecob R,
Clayton N,
Martin RP,
Tsai-Goodman B,
Garratt V,
Ashworth M,
Bowen VM,
McCurdy KR,
Damin MK,
Spencer CT,
Toth MJ,
Kelley RI,
Steward CG
Orphanet J Rare Dis
2013 Feb 12;8:23.
doi: 10.1186/1750-1172-8-23.
PMID: 23398819Free PMC Article
Goldfarb LG,
Vicart P,
Goebel HH,
Dalakas MC
Brain
2004 Apr;127(Pt 4):723-34.
Epub 2004 Jan 14
doi: 10.1093/brain/awh033.
PMID: 14724127
Therapy
Liu Y,
Wang D,
Li T,
Xu L,
Li Z,
Bai X,
Tang M,
Wang Y
Biomed Pharmacother
2023 Feb;158:114209.
Epub 2023 Jan 4
doi: 10.1016/j.biopha.2022.114209.
PMID: 36916434
McDonald CM,
Marbán E,
Hendrix S,
Hogan N,
Ruckdeschel Smith R,
Eagle M,
Finkel RS,
Tian C,
Janas J,
Harmelink MM,
Varadhachary AS,
Taylor MD,
Hor KN,
Mayer OH,
Henricson EK,
Furlong P,
Ascheim DD,
Rogy S,
Williams P,
Marbán L;
HOPE-2 Study Group
Lancet
2022 Mar 12;399(10329):1049-1058.
doi: 10.1016/S0140-6736(22)00012-5.
PMID: 35279258
Thompson R,
Jefferies J,
Wang S,
Pu WT,
Takemoto C,
Hornby B,
Heyman A,
Chin MT,
Vernon HJ
J Inherit Metab Dis
2022 Jan;45(1):17-28.
Epub 2021 Nov 10
doi: 10.1002/jimd.12453.
PMID: 34713454
Dirks AJ,
Jones KM
Am J Physiol Cell Physiol
2006 Dec;291(6):C1208-12.
Epub 2006 Aug 2
doi: 10.1152/ajpcell.00226.2006.
PMID: 16885396
McAllister HA Jr,
Ferrans VJ,
Hall RJ,
Strickman NE,
Bossart MI
Arch Pathol Lab Med
1987 Oct;111(10):953-6.
PMID: 2957973
Prognosis
Ramírez-Vélez R,
González A,
García-Hermoso A,
Amézqueta IL,
Izquierdo M,
Díez J
Metabolism
2023 Jan;138:155348.
Epub 2022 Nov 21
doi: 10.1016/j.metabol.2022.155348.
PMID: 36410495
Escobar-Lopez L,
Ochoa JP,
Royuela A,
Verdonschot JAJ,
Dal Ferro M,
Espinosa MA,
Sabater-Molina M,
Gallego-Delgado M,
Larrañaga-Moreira JM,
Garcia-Pinilla JM,
Basurte-Elorz MT,
Rodríguez-Palomares JF,
Climent V,
Bermudez-Jimenez FJ,
Mogollón-Jiménez MV,
Lopez J,
Peña-Peña ML,
Garcia-Alvarez A,
López-Abel B,
Ripoll-Vera T,
Palomino-Doza J,
Bayes-Genis A,
Brugada R,
Idiazabal U,
Mirelis JG,
Dominguez F,
Henkens MTHM,
Krapels IPC,
Brunner HG,
Paldino A,
Zaffalon D,
Mestroni L,
Sinagra G,
Heymans SRB,
Merlo M,
Garcia-Pavia P
J Am Coll Cardiol
2022 Sep 20;80(12):1115-1126.
doi: 10.1016/j.jacc.2022.06.040.
PMID: 36109106Free PMC Article
Ortiz-Genga MF,
Cuenca S,
Dal Ferro M,
Zorio E,
Salgado-Aranda R,
Climent V,
Padrón-Barthe L,
Duro-Aguado I,
Jiménez-Jáimez J,
Hidalgo-Olivares VM,
García-Campo E,
Lanzillo C,
Suárez-Mier MP,
Yonath H,
Marcos-Alonso S,
Ochoa JP,
Santomé JL,
García-Giustiniani D,
Rodríguez-Garrido JL,
Domínguez F,
Merlo M,
Palomino J,
Peña ML,
Trujillo JP,
Martín-Vila A,
Stolfo D,
Molina P,
Lara-Pezzi E,
Calvo-Iglesias FE,
Nof E,
Calò L,
Barriales-Villa R,
Gimeno-Blanes JR,
Arad M,
García-Pavía P,
Monserrat L
J Am Coll Cardiol
2016 Dec 6;68(22):2440-2451.
doi: 10.1016/j.jacc.2016.09.927.
PMID: 27908349
Takeda A,
Sudo A,
Yamada M,
Yamazawa H,
Izumi G,
Nishino I,
Ariga T
Eur J Pediatr
2011 Nov;170(11):1365-7.
Epub 2011 Sep 23
doi: 10.1007/s00431-011-1575-6.
PMID: 21947198
Naviaux RK
Eur J Pediatr
2000 Dec;159 Suppl 3:S219-26.
doi: 10.1007/pl00014407.
PMID: 11216904
Clinical prediction guides
Escobar-Lopez L,
Ochoa JP,
Royuela A,
Verdonschot JAJ,
Dal Ferro M,
Espinosa MA,
Sabater-Molina M,
Gallego-Delgado M,
Larrañaga-Moreira JM,
Garcia-Pinilla JM,
Basurte-Elorz MT,
Rodríguez-Palomares JF,
Climent V,
Bermudez-Jimenez FJ,
Mogollón-Jiménez MV,
Lopez J,
Peña-Peña ML,
Garcia-Alvarez A,
López-Abel B,
Ripoll-Vera T,
Palomino-Doza J,
Bayes-Genis A,
Brugada R,
Idiazabal U,
Mirelis JG,
Dominguez F,
Henkens MTHM,
Krapels IPC,
Brunner HG,
Paldino A,
Zaffalon D,
Mestroni L,
Sinagra G,
Heymans SRB,
Merlo M,
Garcia-Pavia P
J Am Coll Cardiol
2022 Sep 20;80(12):1115-1126.
doi: 10.1016/j.jacc.2022.06.040.
PMID: 36109106Free PMC Article
McDonald CM,
Marbán E,
Hendrix S,
Hogan N,
Ruckdeschel Smith R,
Eagle M,
Finkel RS,
Tian C,
Janas J,
Harmelink MM,
Varadhachary AS,
Taylor MD,
Hor KN,
Mayer OH,
Henricson EK,
Furlong P,
Ascheim DD,
Rogy S,
Williams P,
Marbán L;
HOPE-2 Study Group
Lancet
2022 Mar 12;399(10329):1049-1058.
doi: 10.1016/S0140-6736(22)00012-5.
PMID: 35279258
Philippou A,
Xanthis D,
Chryssanthopοulos C,
Maridaki M,
Koutsilieris M
Curr Heart Fail Rep
2020 Oct;17(5):299-308.
doi: 10.1007/s11897-020-00468-w.
PMID: 32743732
Ortiz-Genga MF,
Cuenca S,
Dal Ferro M,
Zorio E,
Salgado-Aranda R,
Climent V,
Padrón-Barthe L,
Duro-Aguado I,
Jiménez-Jáimez J,
Hidalgo-Olivares VM,
García-Campo E,
Lanzillo C,
Suárez-Mier MP,
Yonath H,
Marcos-Alonso S,
Ochoa JP,
Santomé JL,
García-Giustiniani D,
Rodríguez-Garrido JL,
Domínguez F,
Merlo M,
Palomino J,
Peña ML,
Trujillo JP,
Martín-Vila A,
Stolfo D,
Molina P,
Lara-Pezzi E,
Calvo-Iglesias FE,
Nof E,
Calò L,
Barriales-Villa R,
Gimeno-Blanes JR,
Arad M,
García-Pavía P,
Monserrat L
J Am Coll Cardiol
2016 Dec 6;68(22):2440-2451.
doi: 10.1016/j.jacc.2016.09.927.
PMID: 27908349
Brum PC,
Bacurau AV,
Cunha TF,
Bechara LR,
Moreira JB
Exp Physiol
2014 Apr;99(4):616-20.
Epub 2013 Nov 22
doi: 10.1113/expphysiol.2013.076844.
PMID: 24273305