Etiology
Vicino A,
Brugnoni R,
Maggi L
Expert Rev Mol Diagn
2023 Jul-Dec;23(12):1175-1193.
Epub 2023 Dec 15
doi: 10.1080/14737159.2023.2288258.
PMID: 38009256
Suetterlin K,
Matthews E,
Sud R,
McCall S,
Fialho D,
Burge J,
Jayaseelan D,
Haworth A,
Sweeney MG,
Kullmann DM,
Schorge S,
Hanna MG,
Männikkö R
Brain
2022 Apr 18;145(2):607-620.
doi: 10.1093/brain/awab344.
PMID: 34529042Free PMC Article
Vivekanandam V,
Munot P,
Hanna MG,
Matthews E
Neurol Clin
2020 Aug;38(3):481-491.
doi: 10.1016/j.ncl.2020.04.003.
PMID: 32703462
North KN,
Wang CH,
Clarke N,
Jungbluth H,
Vainzof M,
Dowling JJ,
Amburgey K,
Quijano-Roy S,
Beggs AH,
Sewry C,
Laing NG,
Bönnemann CG;
International Standard of Care Committee for Congenital Myopathies
Neuromuscul Disord
2014 Feb;24(2):97-116.
Epub 2013 Nov 18
doi: 10.1016/j.nmd.2013.11.003.
PMID: 24456932Free PMC Article
Finsterer J
Acta Neurol Scand
2008 Mar;117(3):145-58.
Epub 2007 Nov 20
doi: 10.1111/j.1600-0404.2007.00963.x.
PMID: 18031562
Diagnosis
Vivekanandam V,
Jayaseelan D,
Hanna MG
Handb Clin Neurol
2023;195:521-532.
doi: 10.1016/B978-0-323-98818-6.00006-6.
PMID: 37562884
Suetterlin K,
Matthews E,
Sud R,
McCall S,
Fialho D,
Burge J,
Jayaseelan D,
Haworth A,
Sweeney MG,
Kullmann DM,
Schorge S,
Hanna MG,
Männikkö R
Brain
2022 Apr 18;145(2):607-620.
doi: 10.1093/brain/awab344.
PMID: 34529042Free PMC Article
Vivekanandam V,
Munot P,
Hanna MG,
Matthews E
Neurol Clin
2020 Aug;38(3):481-491.
doi: 10.1016/j.ncl.2020.04.003.
PMID: 32703462
Stunnenberg BC,
LoRusso S,
Arnold WD,
Barohn RJ,
Cannon SC,
Fontaine B,
Griggs RC,
Hanna MG,
Matthews E,
Meola G,
Sansone VA,
Trivedi JR,
van Engelen BGM,
Vicart S,
Statland JM
Muscle Nerve
2020 Oct;62(4):430-444.
Epub 2020 May 27
doi: 10.1002/mus.26887.
PMID: 32270509Free PMC Article
Glasberg MR
Neurosurgery
1979 Dec;5(6):747-58.
doi: 10.1227/00006123-197912000-00017.
PMID: 392333
Therapy
Berry-Kravis E,
Abbeduto L,
Hagerman R,
Coffey CS,
Cudkowicz M,
Erickson CA,
McDuffie A,
Hessl D,
Ethridge L,
Tassone F,
Kaufmann WE,
Friedmann K,
Bullard L,
Hoffmann A,
Veenstra-VanderWeele J,
Staley K,
Klements D,
Moshinsky M,
Harkey B,
Long J,
Fedler J,
Klingner E,
Ecklund D,
Costigan M,
Huff T,
Pearson B;
NeuroNEXT FXLEARN Investigators
J Clin Invest
2023 Aug 31;134(5)
doi: 10.1172/JCI171723.
PMID: 37651202Free PMC Article
Stunnenberg BC,
LoRusso S,
Arnold WD,
Barohn RJ,
Cannon SC,
Fontaine B,
Griggs RC,
Hanna MG,
Matthews E,
Meola G,
Sansone VA,
Trivedi JR,
van Engelen BGM,
Vicart S,
Statland JM
Muscle Nerve
2020 Oct;62(4):430-444.
Epub 2020 May 27
doi: 10.1002/mus.26887.
PMID: 32270509Free PMC Article
Adaikina A,
Hofman PL,
O'Grady GL,
Gusso S
Pediatr Neurol
2020 Mar;104:13-18.
Epub 2019 Nov 29
doi: 10.1016/j.pediatrneurol.2019.10.008.
PMID: 31926608
Jungbluth H,
Ochala J,
Treves S,
Gautel M
Semin Cell Dev Biol
2017 Apr;64:191-200.
Epub 2016 Aug 8
doi: 10.1016/j.semcdb.2016.08.004.
PMID: 27515125
Finkel MJ
Clin Ther
1984;6(5):577-91.
PMID: 6383610
Prognosis
Marinella G,
Orsini A,
Scacciati M,
Costa E,
Santangelo A,
Astrea G,
Frosini S,
Pasquariello R,
Rubegni A,
Sgherri G,
Corsi M,
Bonuccelli A,
Battini R
Genes (Basel)
2023 Jun 28;14(7)
doi: 10.3390/genes14071363.
PMID: 37510268Free PMC Article
Croci C,
Traverso M,
Baratto S,
Iacomino M,
Pedemonte M,
Caroli F,
Scala M,
Bruno C,
Fiorillo C
Acta Myol
2022;41(3):111-116.
Epub 2022 Sep 30
doi: 10.36185/2532-1900-076.
PMID: 36349186Free PMC Article
Ravenscroft G,
Bryson-Richardson RJ,
Nowak KJ,
Laing NG
F1000Res
2018;7
Epub 2018 Dec 11
doi: 10.12688/f1000research.16422.1.
PMID: 30631434Free PMC Article
Ravenscroft G,
Zaharieva IT,
Bortolotti CA,
Lambrughi M,
Pignataro M,
Borsari M,
Sewry CA,
Phadke R,
Haliloglu G,
Ong R,
Goullée H,
Whyte T,
Consortium UK,
Manzur A,
Talim B,
Kaya U,
Osborn DPS,
Forrest ARR,
Laing NG,
Muntoni F
Hum Mol Genet
2018 Dec 15;27(24):4263-4272.
doi: 10.1093/hmg/ddy320.
PMID: 30215711Free PMC Article
Witting N,
Werlauff U,
Duno M,
Vissing J
Muscle Nerve
2016 Mar;53(3):388-93.
Epub 2015 Aug 13
doi: 10.1002/mus.24765.
PMID: 26172852
Clinical prediction guides
Croci C,
Traverso M,
Baratto S,
Iacomino M,
Pedemonte M,
Caroli F,
Scala M,
Bruno C,
Fiorillo C
Acta Myol
2022;41(3):111-116.
Epub 2022 Sep 30
doi: 10.36185/2532-1900-076.
PMID: 36349186Free PMC Article
Gurgel-Giannetti J,
Souza LS,
Yamamoto GL,
Belisario M,
Lazar M,
Campos W,
Pavanello RCM,
Zatz M,
Reed U,
Zanoteli E,
Oliveira AB,
Lehtokari VL,
Casella EB,
Machado-Costa MC,
Wallgren-Pettersson C,
Laing NG,
Nigro V,
Vainzof M
Int J Mol Sci
2022 Oct 9;23(19)
doi: 10.3390/ijms231911995.
PMID: 36233295Free PMC Article
Li Y,
Li M,
Wang Z,
Yang F,
Wang H,
Bai X,
Sun B,
Chen S,
Huang X
Channels (Austin)
2022 Dec;16(1):35-46.
doi: 10.1080/19336950.2022.2041292.
PMID: 35170402Free PMC Article
Vivekanandam V,
Männikkö R,
Matthews E,
Hanna MG
Expert Rev Mol Diagn
2020 Jul;20(7):725-736.
Epub 2020 Jul 12
doi: 10.1080/14737159.2020.1782195.
PMID: 32657178
Ravenscroft G,
Bryson-Richardson RJ,
Nowak KJ,
Laing NG
F1000Res
2018;7
Epub 2018 Dec 11
doi: 10.12688/f1000research.16422.1.
PMID: 30631434Free PMC Article