Etiology
Sellung D,
Heil L,
Daya N,
Jacobsen F,
Mertens-Rill J,
Zhuge H,
Döring K,
Piran M,
Milting H,
Unger A,
Linke WA,
Kley R,
Preusse C,
Roos A,
Fürst DO,
Ven PFMV,
Vorgerd M
Cells
2023 May 5;12(9)
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PMID: 37174721Free PMC Article
Rosner SR,
Pascoe CD,
Blankman E,
Jensen CC,
Krishnan R,
James AL,
Elliot JG,
Green FH,
Liu JC,
Seow CY,
Park JA,
Beckerle MC,
Paré PD,
Fredberg JJ,
Smith MA
PLoS One
2017;12(3):e0171728.
Epub 2017 Mar 9
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PMID: 28278518Free PMC Article
Selcen D
Neuromuscul Disord
2011 Mar;21(3):161-71.
Epub 2011 Jan 20
doi: 10.1016/j.nmd.2010.12.007.
PMID: 21256014Free PMC Article
Ferrer I,
Olivé M
Expert Rev Mol Med
2008 Sep 3;10:e25.
doi: 10.1017/S1462399408000793.
PMID: 18764962
Kley RA,
Hellenbroich Y,
van der Ven PF,
Fürst DO,
Huebner A,
Bruchertseifer V,
Peters SA,
Heyer CM,
Kirschner J,
Schröder R,
Fischer D,
Müller K,
Tolksdorf K,
Eger K,
Germing A,
Brodherr T,
Reum C,
Walter MC,
Lochmüller H,
Ketelsen UP,
Vorgerd M
Brain
2007 Dec;130(Pt 12):3250-64.
doi: 10.1093/brain/awm271.
PMID: 18055494
Diagnosis
Joureau B,
de Winter JM,
Conijn S,
Bogaards SJP,
Kovacevic I,
Kalganov A,
Persson M,
Lindqvist J,
Stienen GJM,
Irving TC,
Ma W,
Yuen M,
Clarke NF,
Rassier DE,
Malfatti E,
Romero NB,
Beggs AH,
Ottenheijm CAC
Ann Neurol
2018 Feb;83(2):269-282.
Epub 2018 Feb 6
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PMID: 29328520Free PMC Article
Kley RA,
Serdaroglu-Oflazer P,
Leber Y,
Odgerel Z,
van der Ven PF,
Olivé M,
Ferrer I,
Onipe A,
Mihaylov M,
Bilbao JM,
Lee HS,
Höhfeld J,
Djinović-Carugo K,
Kong K,
Tegenthoff M,
Peters SA,
Stenzel W,
Vorgerd M,
Goldfarb LG,
Fürst DO
Brain
2012 Sep;135(Pt 9):2642-60.
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PMID: 22961544Free PMC Article
Selcen D
Neuromuscul Disord
2011 Mar;21(3):161-71.
Epub 2011 Jan 20
doi: 10.1016/j.nmd.2010.12.007.
PMID: 21256014Free PMC Article
Place N,
Bruton JD,
Westerblad H
Clin Exp Pharmacol Physiol
2009 Mar;36(3):334-9.
Epub 2008 Jul 29
doi: 10.1111/j.1440-1681.2008.05021.x.
PMID: 18671711
Vandenboom R
Can J Appl Physiol
2004 Jun;29(3):330-56.
doi: 10.1139/h04-022.
PMID: 15199230
Therapy
Inoue T,
Tanihara H
Prog Retin Eye Res
2013 Nov;37:1-12.
Epub 2013 Jun 12
doi: 10.1016/j.preteyeres.2013.05.002.
PMID: 23770081
Prognosis
Kley RA,
Hellenbroich Y,
van der Ven PF,
Fürst DO,
Huebner A,
Bruchertseifer V,
Peters SA,
Heyer CM,
Kirschner J,
Schröder R,
Fischer D,
Müller K,
Tolksdorf K,
Eger K,
Germing A,
Brodherr T,
Reum C,
Walter MC,
Lochmüller H,
Ketelsen UP,
Vorgerd M
Brain
2007 Dec;130(Pt 12):3250-64.
doi: 10.1093/brain/awm271.
PMID: 18055494
Schröder JM,
Krabbe B,
Weis J
Neuropathol Appl Neurobiol
1995 Feb;21(1):68-73.
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PMID: 7770123
Bloch RJ,
Pumplin DW
Am J Physiol
1988 Mar;254(3 Pt 1):C345-64.
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PMID: 3279807
Clinical prediction guides
Sellung D,
Heil L,
Daya N,
Jacobsen F,
Mertens-Rill J,
Zhuge H,
Döring K,
Piran M,
Milting H,
Unger A,
Linke WA,
Kley R,
Preusse C,
Roos A,
Fürst DO,
Ven PFMV,
Vorgerd M
Cells
2023 May 5;12(9)
doi: 10.3390/cells12091321.
PMID: 37174721Free PMC Article
Winter L,
Staszewska-Daca I,
Zittrich S,
Elhamine F,
Zrelski MM,
Schmidt K,
Fischer I,
Jüngst C,
Schauss A,
Goldmann WH,
Stehle R,
Wiche G
Cells
2023 Apr 26;12(9)
doi: 10.3390/cells12091259.
PMID: 37174658Free PMC Article
Franck A,
Lainé J,
Moulay G,
Lemerle E,
Trichet M,
Gentil C,
Benkhelifa-Ziyyat S,
Lacène E,
Bui MT,
Brochier G,
Guicheney P,
Romero N,
Bitoun M,
Vassilopoulos S
Mol Biol Cell
2019 Mar 1;30(5):579-590.
Epub 2019 Jan 2
doi: 10.1091/mbc.E18-11-0718.
PMID: 30601711Free PMC Article
Luo J,
Hosoki K,
Bacsi A,
Radak Z,
Hegde ML,
Sur S,
Hazra TK,
Brasier AR,
Ba X,
Boldogh I
Free Radic Biol Med
2014 Aug;73:430-8.
Epub 2014 Mar 26
doi: 10.1016/j.freeradbiomed.2014.03.030.
PMID: 24681335Free PMC Article
Place N,
Bruton JD,
Westerblad H
Clin Exp Pharmacol Physiol
2009 Mar;36(3):334-9.
Epub 2008 Jul 29
doi: 10.1111/j.1440-1681.2008.05021.x.
PMID: 18671711