Etiology
Borisovna KO,
Yurievna KA,
Yurievich TK,
Igorevna KO,
Olegovich KD,
Igorevna DA,
Timofeevna BT,
Vyacheslavovna ZN,
Ivanovna SE,
Alekseevich SP,
Vladimirovich IV
BMC Pediatr
2019 Apr 8;19(1):98.
doi: 10.1186/s12887-019-1470-2.
PMID: 30961548Free PMC Article
Peiris TJ,
Indaram M,
Koo E,
Soul JS,
Hunter DG
J AAPOS
2018 Jun;22(3):242-244.e1.
Epub 2018 Mar 16
doi: 10.1016/j.jaapos.2017.12.011.
PMID: 29555514
Kanagawa M,
Toda T
J Neuromuscul Dis
2017;4(4):259-267.
doi: 10.3233/JND-170255.
PMID: 29081423Free PMC Article
Hu P,
Wu S,
Yuan L,
Lin Q,
Zheng W,
Xia H,
Xu H,
Guan L,
Deng H
J Cell Mol Med
2017 Jul;21(7):1388-1393.
Epub 2017 Feb 3
doi: 10.1111/jcmm.13068.
PMID: 28157257Free PMC Article
Barone R,
Aiello C,
Race V,
Morava E,
Foulquier F,
Riemersma M,
Passarelli C,
Concolino D,
Carella M,
Santorelli F,
Vleugels W,
Mercuri E,
Garozzo D,
Sturiale L,
Messina S,
Jaeken J,
Fiumara A,
Wevers RA,
Bertini E,
Matthijs G,
Lefeber DJ
Ann Neurol
2012 Oct;72(4):550-8.
doi: 10.1002/ana.23632.
PMID: 23109149
Diagnosis
Mohammadi P,
Daneshmand MA,
Mahdieh N,
Ashrafi MR,
Heidari M,
Garshasbi M
Acta Neurol Belg
2021 Feb;121(1):143-151.
Epub 2020 Nov 11
doi: 10.1007/s13760-020-01527-8.
PMID: 33175337
Dai Y,
Liang S,
Dong X,
Zhao Y,
Ren H,
Guan Y,
Yin H,
Li C,
Chen L,
Cui L,
Banerjee S
J Cell Mol Med
2019 Feb;23(2):811-818.
Epub 2018 Nov 18
doi: 10.1111/jcmm.13979.
PMID: 30450679Free PMC Article
Hu P,
Yuan L,
Deng H
Mutat Res Rev Mutat Res
2018 Oct-Dec;778:45-50.
Epub 2018 Sep 12
doi: 10.1016/j.mrrev.2018.09.002.
PMID: 30454682
Peiris TJ,
Indaram M,
Koo E,
Soul JS,
Hunter DG
J AAPOS
2018 Jun;22(3):242-244.e1.
Epub 2018 Mar 16
doi: 10.1016/j.jaapos.2017.12.011.
PMID: 29555514
Hu P,
Wu S,
Yuan L,
Lin Q,
Zheng W,
Xia H,
Xu H,
Guan L,
Deng H
J Cell Mol Med
2017 Jul;21(7):1388-1393.
Epub 2017 Feb 3
doi: 10.1111/jcmm.13068.
PMID: 28157257Free PMC Article
Therapy
Salam MAE,
Salama K,
Selim YMM,
Saad M,
Rady R,
Alawbathani S,
Schroeder S,
Elmonem MA,
Elkhateeb N
Ann Hum Genet
2023 Jul;87(4):166-173.
Epub 2023 Mar 14
doi: 10.1111/ahg.12505.
PMID: 36916508
Peiris TJ,
Indaram M,
Koo E,
Soul JS,
Hunter DG
J AAPOS
2018 Jun;22(3):242-244.e1.
Epub 2018 Mar 16
doi: 10.1016/j.jaapos.2017.12.011.
PMID: 29555514
Ducro BJ,
Schurink A,
Bastiaansen JW,
Boegheim IJ,
van Steenbeek FG,
Vos-Loohuis M,
Nijman IJ,
Monroe GR,
Hellinga I,
Dibbits BW,
Back W,
Leegwater PA
BMC Genomics
2015 Oct 9;16:761.
doi: 10.1186/s12864-015-1936-z.
PMID: 26452345Free PMC Article
Prognosis
Strang-Karlsson S,
Johnson K,
Töpf A,
Xu L,
Lek M,
MacArthur DG,
Casar-Borota O,
Williams M,
Straub V,
Wallgren-Pettersson C
Neuromuscul Disord
2018 Jul;28(7):614-618.
Epub 2018 May 16
doi: 10.1016/j.nmd.2018.04.012.
PMID: 29910097Free PMC Article
Hu P,
Wu S,
Yuan L,
Lin Q,
Zheng W,
Xia H,
Xu H,
Guan L,
Deng H
J Cell Mol Med
2017 Jul;21(7):1388-1393.
Epub 2017 Feb 3
doi: 10.1111/jcmm.13068.
PMID: 28157257Free PMC Article
Czeschik JC,
Hehr U,
Hartmann B,
Lüdecke HJ,
Rosenbaum T,
Schweiger B,
Wieczorek D
Eur J Med Genet
2013 Dec;56(12):689-94.
Epub 2013 Oct 10
doi: 10.1016/j.ejmg.2013.09.014.
PMID: 24120487
Barone R,
Aiello C,
Race V,
Morava E,
Foulquier F,
Riemersma M,
Passarelli C,
Concolino D,
Carella M,
Santorelli F,
Vleugels W,
Mercuri E,
Garozzo D,
Sturiale L,
Messina S,
Jaeken J,
Fiumara A,
Wevers RA,
Bertini E,
Matthijs G,
Lefeber DJ
Ann Neurol
2012 Oct;72(4):550-8.
doi: 10.1002/ana.23632.
PMID: 23109149
Clinical prediction guides
Bhattacharya S,
Das A,
Ghosh S,
Dasgupta R,
Bagchi A
Gene
2014 Mar 1;537(1):108-14.
Epub 2013 Dec 18
doi: 10.1016/j.gene.2013.11.071.
PMID: 24361964
Barone R,
Aiello C,
Race V,
Morava E,
Foulquier F,
Riemersma M,
Passarelli C,
Concolino D,
Carella M,
Santorelli F,
Vleugels W,
Mercuri E,
Garozzo D,
Sturiale L,
Messina S,
Jaeken J,
Fiumara A,
Wevers RA,
Bertini E,
Matthijs G,
Lefeber DJ
Ann Neurol
2012 Oct;72(4):550-8.
doi: 10.1002/ana.23632.
PMID: 23109149