Etiology
Cannie DE,
Syrris P,
Protonotarios A,
Bakalakos A,
Pruny JF,
Ditaranto R,
Martinez-Veira C,
Larrañaga-Moreira JM,
Medo K,
Bermúdez-Jiménez FJ,
Ben Yaou R,
Leturcq F,
Mezcua AR,
Marini-Bettolo C,
Cabrera E,
Reuter C,
Limeres Freire J,
Rodríguez-Palomares JF,
Mestroni L,
Taylor MRG,
Parikh VN,
Ashley EA,
Barriales-Villa R,
Jiménez-Jáimez J,
Garcia-Pavia P,
Charron P,
Biagini E,
García Pinilla JM,
Bourke J,
Savvatis K,
Wahbi K,
Elliott PM
Eur Heart J
2023 Dec 21;44(48):5064-5073.
doi: 10.1093/eurheartj/ehad561.
PMID: 37639473Free PMC Article
Pinto MJ,
Fromes Y,
Ackermann-Bonan I,
Leturcq F,
Verebi C,
Romero NB,
Stojkovic T
J Neuromuscul Dis
2022;9(5):649-654.
doi: 10.3233/JND-220823.
PMID: 36031908
Ishikawa T,
Mishima H,
Barc J,
Takahashi MP,
Hirono K,
Terada S,
Kowase S,
Sato T,
Mukai Y,
Yui Y,
Ohkubo K,
Kimoto H,
Watanabe H,
Hata Y,
Aiba T,
Ohno S,
Chishaki A,
Shimizu W,
Horie M,
Ichida F,
Nogami A,
Yoshiura KI,
Schott JJ,
Makita N
Circ Arrhythm Electrophysiol
2020 Oct;13(10):e008712.
Epub 2020 Jul 29
doi: 10.1161/CIRCEP.120.008712.
PMID: 32755394
Carboni N,
Mura M,
Mercuri E,
Marrosu G,
Manzi RC,
Cocco E,
Nissardi V,
Isola F,
Mateddu A,
Solla E,
Maioli MA,
Oppo V,
Piras R,
Marini S,
Lai C,
Politano L,
Marrosu MG
Neuromuscul Disord
2012 Feb;22(2):152-8.
Epub 2011 Oct 10
doi: 10.1016/j.nmd.2011.09.001.
PMID: 21993399
Nagano A,
Arahata K
Curr Opin Neurol
2000 Oct;13(5):533-9.
doi: 10.1097/00019052-200010000-00005.
PMID: 11073359
Diagnosis
Pinto MJ,
Fromes Y,
Ackermann-Bonan I,
Leturcq F,
Verebi C,
Romero NB,
Stojkovic T
J Neuromuscul Dis
2022;9(5):649-654.
doi: 10.3233/JND-220823.
PMID: 36031908
Viggiano E,
Madej-Pilarczyk A,
Carboni N,
Picillo E,
Ergoli M,
Gaudio SD,
Marchel M,
Nigro G,
Palladino A,
Politano L
Genes (Basel)
2019 Nov 11;10(11)
doi: 10.3390/genes10110919.
PMID: 31718017Free PMC Article
Canki-Klain N,
Récan D,
Milicić D,
Llense S,
Leturcq F,
Deburgrave N,
Kaplan JC,
Debevec M,
Zurak N
Croat Med J
2000 Dec;41(4):389-95.
PMID: 11063761
Sabatelli P,
Squarzoni S,
Petrini S,
Capanni C,
Ognibene A,
Cartegni L,
Cobianchi F,
Merlini L,
Toniolo D,
Maraldi NM
Neuromuscul Disord
1998 Apr;8(2):67-71.
doi: 10.1016/s0960-8966(97)00147-8.
PMID: 9608558
Emery AE
Clin Genet
1987 Nov;32(5):360-7.
doi: 10.1111/j.1399-0004.1987.tb03302.x.
PMID: 3319295
Therapy
Talkop UA,
Talvik I,
Sõnajalg M,
Sibul H,
Kolk A,
Piirsoo A,
Warzok R,
Wulff K,
Wehnert MS,
Talvik T
Neuromuscul Disord
2002 Nov;12(9):878-81.
doi: 10.1016/s0960-8966(02)00134-7.
PMID: 12398842
Ellis JA,
Craxton M,
Yates JR,
Kendrick-Jones J
J Cell Sci
1998 Mar;111 ( Pt 6):781-92.
doi: 10.1242/jcs.111.6.781.
PMID: 9472006
Prognosis
Chen T,
Lu X,
Shi Q,
Guo J,
Wang H,
Wang Q,
Yin X,
Zhang Y,
Pu C,
Zhou D
Neuromuscul Disord
2020 Feb;30(2):165-172.
Epub 2019 Nov 28
doi: 10.1016/j.nmd.2019.11.011.
PMID: 32001145
Carboni N,
Mura M,
Mercuri E,
Marrosu G,
Manzi RC,
Cocco E,
Nissardi V,
Isola F,
Mateddu A,
Solla E,
Maioli MA,
Oppo V,
Piras R,
Marini S,
Lai C,
Politano L,
Marrosu MG
Neuromuscul Disord
2012 Feb;22(2):152-8.
Epub 2011 Oct 10
doi: 10.1016/j.nmd.2011.09.001.
PMID: 21993399
Talkop UA,
Talvik I,
Sõnajalg M,
Sibul H,
Kolk A,
Piirsoo A,
Warzok R,
Wulff K,
Wehnert MS,
Talvik T
Neuromuscul Disord
2002 Nov;12(9):878-81.
doi: 10.1016/s0960-8966(02)00134-7.
PMID: 12398842
Fujimoto S,
Ishikawa T,
Saito M,
Wada Y,
Wada I,
Arahata K,
Nonaka I
Neuropediatrics
1999 Jun;30(3):161-3.
doi: 10.1055/s-2007-973484.
PMID: 10480214
Hoeltzenbein M,
Karow T,
Zeller JA,
Warzok R,
Wulff K,
Zschiesche M,
Herrmann FH,
Grosse-Heitmeyer W,
Wehnert MS
Neuromuscul Disord
1999 May;9(3):166-70.
doi: 10.1016/s0960-8966(98)00120-5.
PMID: 10382910
Clinical prediction guides
Ishikawa T,
Mishima H,
Barc J,
Takahashi MP,
Hirono K,
Terada S,
Kowase S,
Sato T,
Mukai Y,
Yui Y,
Ohkubo K,
Kimoto H,
Watanabe H,
Hata Y,
Aiba T,
Ohno S,
Chishaki A,
Shimizu W,
Horie M,
Ichida F,
Nogami A,
Yoshiura KI,
Schott JJ,
Makita N
Circ Arrhythm Electrophysiol
2020 Oct;13(10):e008712.
Epub 2020 Jul 29
doi: 10.1161/CIRCEP.120.008712.
PMID: 32755394
Chen T,
Lu X,
Shi Q,
Guo J,
Wang H,
Wang Q,
Yin X,
Zhang Y,
Pu C,
Zhou D
Neuromuscul Disord
2020 Feb;30(2):165-172.
Epub 2019 Nov 28
doi: 10.1016/j.nmd.2019.11.011.
PMID: 32001145
Herrada I,
Samson C,
Velours C,
Renault L,
Östlund C,
Chervy P,
Puchkov D,
Worman HJ,
Buendia B,
Zinn-Justin S
ACS Chem Biol
2015 Dec 18;10(12):2733-42.
Epub 2015 Oct 5
doi: 10.1021/acschembio.5b00648.
PMID: 26415001Free PMC Article
Meinke P,
Schneiderat P,
Srsen V,
Korfali N,
Lê Thành P,
Cowan GJ,
Cavanagh DR,
Wehnert M,
Schirmer EC,
Walter MC
Neuromuscul Disord
2015 Feb;25(2):127-36.
Epub 2014 Oct 6
doi: 10.1016/j.nmd.2014.09.012.
PMID: 25454731Free PMC Article
Ishikawa K,
Mimuro M,
Tanaka T
Intern Med
2011;50(5):459-62.
Epub 2011 Mar 1
doi: 10.2169/internalmedicine.50.4598.
PMID: 21372459