Etiology
Donegà S,
Rogalska ME,
Pianigiani G,
Igreja S,
Amaral MD,
Pagani F
Hum Mutat
2020 Dec;41(12):2143-2154.
Epub 2020 Oct 14
doi: 10.1002/humu.24116.
PMID: 32935393
Dal Mas A,
Fortugno P,
Donadon I,
Levati L,
Castiglia D,
Pagani F
Hum Mutat
2015 May;36(5):504-12.
Epub 2015 Mar 19
doi: 10.1002/humu.22762.
PMID: 25665175
Hartmann L,
Neveling K,
Borkens S,
Schneider H,
Freund M,
Grassman E,
Theiss S,
Wawer A,
Burdach S,
Auerbach AD,
Schindler D,
Hanenberg H,
Schaal H
Am J Hum Genet
2010 Oct 8;87(4):480-93.
doi: 10.1016/j.ajhg.2010.08.016.
PMID: 20869034Free PMC Article
Roca X,
Sachidanandam R,
Krainer AR
RNA
2005 May;11(5):683-98.
doi: 10.1261/rna.2040605.
PMID: 15840817Free PMC Article
Li Z,
Yu A,
Weiner AM
J Virol
1998 May;72(5):4183-91.
doi: 10.1128/JVI.72.5.4183-4191.1998.
PMID: 9557707Free PMC Article
Diagnosis
Dong Y,
Li W,
Meng J,
Wang P,
Sun M,
Zhou F,
Li D,
Shu J,
Cai C
Am J Med Genet A
2023 Nov;191(11):2775-2782.
Epub 2023 Jul 28
doi: 10.1002/ajmg.a.63360.
PMID: 37507849
Scalet D,
Sacchetto C,
Bernardi F,
Pinotti M,
van de Graaf SFJ,
Balestra D
J Hum Genet
2018 May;63(5):683-686.
Epub 2018 Mar 1
doi: 10.1038/s10038-018-0427-x.
PMID: 29497141Free PMC Article
Cazzella V,
Martone J,
Pinnarò C,
Santini T,
Twayana SS,
Sthandier O,
D'Amico A,
Ricotti V,
Bertini E,
Muntoni F,
Bozzoni I
Mol Ther
2012 Nov;20(11):2134-42.
Epub 2012 Sep 11
doi: 10.1038/mt.2012.178.
PMID: 22968481Free PMC Article
Schmid F,
Glaus E,
Barthelmes D,
Fliegauf M,
Gaspar H,
Nürnberg G,
Nürnberg P,
Omran H,
Berger W,
Neidhardt J
Hum Mutat
2011 Jul;32(7):815-24.
doi: 10.1002/humu.21509.
PMID: 21520335
Crehalet H,
Latour P,
Bonnet V,
Attarian S,
Labauge P,
Bonello N,
Bernard R,
Millat G,
Rousson R,
Bozon D
Neurogenetics
2010 Feb;11(1):13-9.
Epub 2009 May 28
doi: 10.1007/s10048-009-0199-8.
PMID: 19475438
Therapy
Donadon I,
Pinotti M,
Rajkowska K,
Pianigiani G,
Barbon E,
Morini E,
Motaln H,
Rogelj B,
Mingozzi F,
Slaugenhaupt SA,
Pagani F
Hum Mol Genet
2018 Jul 15;27(14):2466-2476.
doi: 10.1093/hmg/ddy151.
PMID: 29701768Free PMC Article
Scalet D,
Balestra D,
Rohban S,
Bovolenta M,
Perrone D,
Bernardi F,
Campaner S,
Pinotti M
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):15-20.
Epub 2016 Sep 14
doi: 10.1016/j.bbadis.2016.09.011.
PMID: 27639833
Lee NC,
Lee YM,
Chen PW,
Byrne BJ,
Hwu WL
Hum Mol Genet
2016 Dec 1;25(23):5142-5147.
doi: 10.1093/hmg/ddw323.
PMID: 27658936
Pinotti M,
Bernardi F,
Dal Mas A,
Pagani F
J Thromb Haemost
2011 Nov;9(11):2143-52.
doi: 10.1111/j.1538-7836.2011.04481.x.
PMID: 21854538
Krawczak M,
Reiss J,
Cooper DN
Hum Genet
1992 Sep-Oct;90(1-2):41-54.
doi: 10.1007/BF00210743.
PMID: 1427786
Prognosis
Shuai S,
Suzuki H,
Diaz-Navarro A,
Nadeu F,
Kumar SA,
Gutierrez-Fernandez A,
Delgado J,
Pinyol M,
López-Otín C,
Puente XS,
Taylor MD,
Campo E,
Stein LD
Nature
2019 Oct;574(7780):712-716.
Epub 2019 Oct 9
doi: 10.1038/s41586-019-1651-z.
PMID: 31597163
Ptok J,
Müller L,
Theiss S,
Schaal H
Biochim Biophys Acta Gene Regul Mech
2019 Nov-Dec;1862(11-12):194391.
Epub 2019 Jun 13
doi: 10.1016/j.bbagrm.2019.06.002.
PMID: 31202784
Singh RN,
Singh NN
Biochim Biophys Acta Gene Regul Mech
2019 Jun;1862(6):634-642.
Epub 2019 Apr 28
doi: 10.1016/j.bbagrm.2019.04.004.
PMID: 31042550Free PMC Article
Scalet D,
Balestra D,
Rohban S,
Bovolenta M,
Perrone D,
Bernardi F,
Campaner S,
Pinotti M
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):15-20.
Epub 2016 Sep 14
doi: 10.1016/j.bbadis.2016.09.011.
PMID: 27639833
Raponi M,
Baralle D
Biochem Soc Trans
2008 Jun;36(Pt 3):548-50.
doi: 10.1042/BST0360548.
PMID: 18482005
Clinical prediction guides
Müller L,
Ptok J,
Nisar A,
Antemann J,
Grothmann R,
Hillebrand F,
Brillen AL,
Ritchie A,
Theiss S,
Schaal H
Nucleic Acids Res
2022 Aug 26;50(15):8834-8851.
doi: 10.1093/nar/gkac663.
PMID: 35947702Free PMC Article
Ptok J,
Müller L,
Theiss S,
Schaal H
Biochim Biophys Acta Gene Regul Mech
2019 Nov-Dec;1862(11-12):194391.
Epub 2019 Jun 13
doi: 10.1016/j.bbagrm.2019.06.002.
PMID: 31202784
Singh RN,
Singh NN
Biochim Biophys Acta Gene Regul Mech
2019 Jun;1862(6):634-642.
Epub 2019 Apr 28
doi: 10.1016/j.bbagrm.2019.04.004.
PMID: 31042550Free PMC Article
Scalet D,
Balestra D,
Rohban S,
Bovolenta M,
Perrone D,
Bernardi F,
Campaner S,
Pinotti M
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):15-20.
Epub 2016 Sep 14
doi: 10.1016/j.bbadis.2016.09.011.
PMID: 27639833
Raponi M,
Baralle D
Biochem Soc Trans
2008 Jun;36(Pt 3):548-50.
doi: 10.1042/BST0360548.
PMID: 18482005