Etiology
Pinto WBVR,
Souza PVS,
Badia BML,
Farias IB,
Albuquerque Filho JMV,
Gonçalves EA,
Machado RIL,
Oliveira ASB
Arq Neuropsiquiatr
2021 Oct;79(10):912-923.
doi: 10.1590/0004-282X-ANP-2020-0429.
PMID: 34706022
van der Heul AMB,
Cuppen I,
Wadman RI,
Asselman F,
Schoenmakers MAGC,
van de Woude DR,
Gerrits E,
van der Pol WL,
van den Engel-Hoek L
J Neuromuscul Dis
2020;7(3):323-330.
doi: 10.3233/JND-190465.
PMID: 32333596
Wijngaarde CA,
Blank AC,
Stam M,
Wadman RI,
van den Berg LH,
van der Pol WL
Orphanet J Rare Dis
2017 Apr 11;12(1):67.
doi: 10.1186/s13023-017-0613-5.
PMID: 28399889Free PMC Article
Fujak A,
Kopschina C,
Forst R,
Gras F,
Mueller LA,
Forst J
Arch Orthop Trauma Surg
2010 Jun;130(6):775-80.
Epub 2010 Apr 4
doi: 10.1007/s00402-010-1096-1.
PMID: 20364429
Rudnik-Schöneborn S,
Zerres K,
Ignatius J,
Rietschel M
J Neurol
1992 Jan;239(1):26-30.
doi: 10.1007/BF00839207.
PMID: 1541965
Diagnosis
Theuriet J,
Fernandez-Eulate G,
Latour P,
Stojkovic T,
Masingue M,
Vidoni L,
Bernard E,
Jacquier A,
Schaeffer L,
Salort-Campana E,
Chanson JB,
Pakleza AN,
Kaminsky AL,
Svahn J,
Manel V,
Bouhour F,
Pegat A
Eur J Hum Genet
2024 Jan;32(1):37-43.
Epub 2023 Jun 19
doi: 10.1038/s41431-023-01407-8.
PMID: 37337091Free PMC Article
Stam M,
Wadman RI,
Bartels B,
Leeuw M,
Westeneng HJ,
Wijngaarde CA,
van den Berg LH,
van der Pol WL
Orphanet J Rare Dis
2018 Sep 12;13(1):160.
doi: 10.1186/s13023-018-0904-5.
PMID: 30208915Free PMC Article
Rossor AM,
Oates EC,
Salter HK,
Liu Y,
Murphy SM,
Schule R,
Gonzalez MA,
Scoto M,
Phadke R,
Sewry CA,
Houlden H,
Jordanova A,
Tournev I,
Chamova T,
Litvinenko I,
Zuchner S,
Herrmann DN,
Blake J,
Sowden JE,
Acsadi G,
Rodriguez ML,
Menezes MP,
Clarke NF,
Auer Grumbach M,
Bullock SL,
Muntoni F,
Reilly MM,
North KN
Brain
2015 Feb;138(Pt 2):293-310.
Epub 2014 Dec 14
doi: 10.1093/brain/awu356.
PMID: 25497877Free PMC Article
Fujak A,
Kopschina C,
Forst R,
Gras F,
Mueller LA,
Forst J
Arch Orthop Trauma Surg
2010 Jun;130(6):775-80.
Epub 2010 Apr 4
doi: 10.1007/s00402-010-1096-1.
PMID: 20364429
Gross M
J Neurol Neurosurg Psychiatry
1966 Feb;29(1):29-34.
doi: 10.1136/jnnp.29.1.29.
PMID: 5910575Free PMC Article
Therapy
Stam M,
Wadman RI,
Wijngaarde CA,
Bartels B,
Asselman FL,
Otto LAM,
Goedee HS,
Habets LE,
de Groot JF,
Schoenmakers MAGC,
Cuppen I,
van den Berg LH,
van der Pol WL
BMJ Open
2018 Jul 30;8(7):e019932.
doi: 10.1136/bmjopen-2017-019932.
PMID: 30061431Free PMC Article
Arnold ES,
Fischbeck KH
Handb Clin Neurol
2018;148:591-601.
doi: 10.1016/B978-0-444-64076-5.00038-7.
PMID: 29478602
Kaczmarek A,
Schneider S,
Wirth B,
Riessland M
Expert Opin Investig Drugs
2015;24(7):867-81.
Epub 2015 Apr 24
doi: 10.1517/13543784.2015.1038341.
PMID: 25911060
Liu HC,
Ting CH,
Wen HL,
Tsai LK,
Hsieh-Li HM,
Li H,
Lin-Chao S
BMC Med
2013 Feb 14;11:38.
doi: 10.1186/1741-7015-11-38.
PMID: 23409868Free PMC Article
Buratti E,
Baralle FE
Trends Mol Med
2005 Jan;11(1):5-9.
doi: 10.1016/j.molmed.2004.11.007.
PMID: 15649816
Prognosis
van Bruggen HW,
Wijngaarde CA,
Asselman F,
Stam M,
Creugers NHJ,
Wadman RI,
van der Pol WL,
Kalaykova SI
J Neuromuscul Dis
2024;11(3):655-664.
doi: 10.3233/JND-240007.
PMID: 38517801
Habets LE,
Bartels B,
Asselman FL,
Hooijmans MT,
van den Berg S,
Nederveen AJ,
van der Pol WL,
Jeneson JAL
Brain
2022 May 24;145(4):1422-1435.
doi: 10.1093/brain/awab411.
PMID: 34788410Free PMC Article
Fujak A,
Raab W,
Schuh A,
Kreß A,
Forst R,
Forst J
Arch Orthop Trauma Surg
2012 Dec;132(12):1697-706.
Epub 2012 Oct 4
doi: 10.1007/s00402-012-1610-8.
PMID: 23053190
Zerres K,
Wirth B,
Rudnik-Schöneborn S
Neuromuscul Disord
1997 May;7(3):202-7.
doi: 10.1016/s0960-8966(97)00459-8.
PMID: 9185186
Rudnik-Schöneborn S,
Zerres K,
Ignatius J,
Rietschel M
J Neurol
1992 Jan;239(1):26-30.
doi: 10.1007/BF00839207.
PMID: 1541965
Clinical prediction guides
van Bruggen HW,
Wijngaarde CA,
Asselman F,
Stam M,
Creugers NHJ,
Wadman RI,
van der Pol WL,
Kalaykova SI
J Neuromuscul Dis
2024;11(3):655-664.
doi: 10.3233/JND-240007.
PMID: 38517801
van der Heul AMB,
Cuppen I,
Wadman RI,
Asselman F,
Schoenmakers MAGC,
van de Woude DR,
Gerrits E,
van der Pol WL,
van den Engel-Hoek L
J Neuromuscul Dis
2020;7(3):323-330.
doi: 10.3233/JND-190465.
PMID: 32333596
Fujak A,
Kopschina C,
Forst R,
Gras F,
Mueller LA,
Forst J
Arch Orthop Trauma Surg
2010 Jun;130(6):775-80.
Epub 2010 Apr 4
doi: 10.1007/s00402-010-1096-1.
PMID: 20364429
Lefebvre S,
Bürglen L,
Frézal J,
Munnich A,
Melki J
Hum Mol Genet
1998;7(10):1531-6.
doi: 10.1093/hmg/7.10.1531.
PMID: 9735373
Tonali P,
Servidei S,
Uncini A,
Restuccia D,
Galluzzi G
Ital J Neurol Sci
1984 Dec;5(4):423-32.
doi: 10.1007/BF02042627.
PMID: 6530365