PubMed

Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ.

Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344.

Goebel HH, Blaschek A.

Semin Pediatr Neurol. 2011 Dec;18(4):272-6. doi: 10.1016/j.spen.2011.10.009. Review.

Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C.

Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.

Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF.

Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15.

Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J.

Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19. Erratum in: Neuromuscul Disord.2010 Aug;20(8):567.

De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J.

Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23.

Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN.

Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3.

Kee AJ, Hardeman EC.

Adv Exp Med Biol. 2008;644:143-57. Review.

Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H.

Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.

Ochala J.

J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24. Review.

Laing NG.

Curr Opin Neurol. 2007 Oct;20(5):583-9. Review.

Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A.

Arch Neurol. 2007 Sep;64(9):1334-8.

Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2007 Jun;17(6):433-42. Epub 2007 Apr 16.

Fidziańska A.

J Neurol Sci. 2002 Sep 15;201(1-2):27-31.

Sawicka E.

Neuropatol Pol. 1991;29(1-2):29-40.

Fidzianska A, Badurska B, Ryniewicz B, Dembek I.

Neurology. 1981 Sep;31(9):1113-20. No abstract available.