Etiology
Murtazina A,
Nikitin S,
Rudenskaya G,
Sharkova I,
Borovikov A,
Sparber P,
Shchagina O,
Chukhrova A,
Ryzhkova O,
Shatokhina O,
Orlova A,
Udalova V,
Kanivets I,
Korostelev S,
Polyakov A,
Dadali E,
Kutsev S
Genes (Basel)
2022 Oct 31;13(11)
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PMID: 36360228Free PMC Article
Guo X,
Zhao Z,
Shen H,
Bing Q,
Li N,
Chen J,
Hu J
Neurol Sci
2022 Aug;43(8):5049-5056.
Epub 2022 Apr 19
doi: 10.1007/s10072-022-06023-w.
PMID: 35438352
Lv XQ,
Xu L,
Lin PF,
Yan CZ
Neurol Sci
2022 Jul;43(7):4483-4491.
Epub 2022 Feb 9
doi: 10.1007/s10072-022-05938-8.
PMID: 35138478
Fatehi F,
Advani S,
Okhovat AA,
Ziaadini B,
Shamshiri H,
Nafissi S
J Neuromuscul Dis
2021;8(4):735-742.
doi: 10.3233/JND-210629.
PMID: 34334416
Broccolini A,
Mirabella M
Biochim Biophys Acta
2015 Apr;1852(4):644-50.
Epub 2014 Aug 19
doi: 10.1016/j.bbadis.2014.08.007.
PMID: 25149037
Diagnosis
Guo X,
Zhao Z,
Shen H,
Bing Q,
Li N,
Chen J,
Hu J
Neurol Sci
2022 Aug;43(8):5049-5056.
Epub 2022 Apr 19
doi: 10.1007/s10072-022-06023-w.
PMID: 35438352
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
Carrillo N,
Malicdan MC,
Huizing M
Neurotherapeutics
2018 Oct;15(4):900-914.
doi: 10.1007/s13311-018-0671-y.
PMID: 30338442Free PMC Article
Nishino I,
Carrillo-Carrasco N,
Argov Z
J Neurol Neurosurg Psychiatry
2015 Apr;86(4):385-92.
Epub 2014 Jul 7
doi: 10.1136/jnnp-2013-307051.
PMID: 25002140Free PMC Article
Celeste FV,
Vilboux T,
Ciccone C,
de Dios JK,
Malicdan MC,
Leoyklang P,
McKew JC,
Gahl WA,
Carrillo-Carrasco N,
Huizing M
Hum Mutat
2014 Aug;35(8):915-26.
doi: 10.1002/humu.22583.
PMID: 24796702Free PMC Article
Therapy
Yoshioka W,
Nishino I,
Noguchi S
Curr Opin Neurol
2022 Oct 1;35(5):629-636.
Epub 2022 Aug 11
doi: 10.1097/WCO.0000000000001090.
PMID: 35959526
Carrillo N,
Malicdan MC,
Leoyklang P,
Shrader JA,
Joe G,
Slota C,
Perreault J,
Heiss JD,
Class B,
Liu CY,
Bradley K,
Jodarski C,
Ciccone C,
Driscoll C,
Parks R,
Van Wart S,
Bayman L,
Coffey CS,
Quintana M,
Berry SM,
Huizing M,
Gahl WA
Genet Med
2021 Nov;23(11):2067-2075.
Epub 2021 Jul 13
doi: 10.1038/s41436-021-01259-x.
PMID: 34257421Free PMC Article
Quintana M,
Shrader J,
Slota C,
Joe G,
McKew JC,
Fitzgerald M,
Gahl WA,
Berry S,
Carrillo N
Stat Med
2019 Apr 15;38(8):1459-1474.
Epub 2018 Dec 3
doi: 10.1002/sim.8050.
PMID: 30511500
Pogoryelova O,
González Coraspe JA,
Nikolenko N,
Lochmüller H,
Roos A
Orphanet J Rare Dis
2018 May 2;13(1):70.
doi: 10.1186/s13023-018-0802-x.
PMID: 29720219Free PMC Article
Nishino I,
Carrillo-Carrasco N,
Argov Z
J Neurol Neurosurg Psychiatry
2015 Apr;86(4):385-92.
Epub 2014 Jul 7
doi: 10.1136/jnnp-2013-307051.
PMID: 25002140Free PMC Article
Prognosis
Van Wart S,
Mager DE,
Bednasz CJ,
Huizing M,
Carrillo N
Drugs R D
2021 Jun;21(2):189-202.
Epub 2021 Apr 24
doi: 10.1007/s40268-021-00343-6.
PMID: 33893973Free PMC Article
Khadilkar SV,
Chaudhari AD,
Singla MB,
Dastur RS,
Gaitonde PS,
Bhutada AG,
Hegde MR
Muscle Nerve
2021 Feb;63(2):199-203.
Epub 2020 Nov 28
doi: 10.1002/mus.27117.
PMID: 33197058
Celeste FV,
Vilboux T,
Ciccone C,
de Dios JK,
Malicdan MC,
Leoyklang P,
McKew JC,
Gahl WA,
Carrillo-Carrasco N,
Huizing M
Hum Mutat
2014 Aug;35(8):915-26.
doi: 10.1002/humu.22583.
PMID: 24796702Free PMC Article
Cho A,
Hayashi YK,
Monma K,
Oya Y,
Noguchi S,
Nonaka I,
Nishino I
J Neurol Neurosurg Psychiatry
2014 Aug;85(8):914-7.
Epub 2013 Sep 11
doi: 10.1136/jnnp-2013-305587.
PMID: 24027297
Li H,
Chen Q,
Liu F,
Zhang X,
Li W,
Liu S,
Zhao Y,
Gong Y,
Yan C
PLoS One
2013;8(3):e58116.
Epub 2013 Mar 5
doi: 10.1371/journal.pone.0058116.
PMID: 23472144Free PMC Article
Clinical prediction guides
Murtazina A,
Nikitin S,
Rudenskaya G,
Sharkova I,
Borovikov A,
Sparber P,
Shchagina O,
Chukhrova A,
Ryzhkova O,
Shatokhina O,
Orlova A,
Udalova V,
Kanivets I,
Korostelev S,
Polyakov A,
Dadali E,
Kutsev S
Genes (Basel)
2022 Oct 31;13(11)
doi: 10.3390/genes13111991.
PMID: 36360228Free PMC Article
Yoshioka W,
Nishino I,
Noguchi S
Curr Opin Neurol
2022 Oct 1;35(5):629-636.
Epub 2022 Aug 11
doi: 10.1097/WCO.0000000000001090.
PMID: 35959526
Mori-Yoshimura M,
Kimura A,
Tsuru A,
Yajima H,
Segawa K,
Mizuno K,
Oya Y,
Noguchi S,
Nishino I,
Takahashi Y
Muscle Nerve
2022 Mar;65(3):284-290.
Epub 2021 Nov 12
doi: 10.1002/mus.27451.
PMID: 34716939
Margeta M
Annu Rev Pathol
2020 Jan 24;15:261-285.
Epub 2019 Oct 8
doi: 10.1146/annurev-pathmechdis-012419-032618.
PMID: 31594457
Celeste FV,
Vilboux T,
Ciccone C,
de Dios JK,
Malicdan MC,
Leoyklang P,
McKew JC,
Gahl WA,
Carrillo-Carrasco N,
Huizing M
Hum Mutat
2014 Aug;35(8):915-26.
doi: 10.1002/humu.22583.
PMID: 24796702Free PMC Article