PubMed

Chen TT, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL.

Neurology. 2013 Mar 19;80(12):1078-85. doi: 10.1212/WNL.0b013e31828868e7. Epub 2013 Feb 13.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B.

Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14.

Ursu SF, Alekov A, Mao NH, Jurkat-Rott K.

Acta Myol. 2012 Oct;31(2):144-53.

Richman DP, Yu Y, Lee TT, Tseng PY, Yu WP, Maselli RA, Tang CY, Chen TY.

Neuromolecular Med. 2012 Dec;14(4):328-37. doi: 10.1007/s12017-012-8190-1. Epub 2012 Jul 12.

Du H, Grob SR, Zhao L, Lee J, El-Sahn M, Hughes G, Luo J, Schaf K, Duan Y, Quach J, Wei X, Shaw P, Granet D, Zhang K.

Eye (Lond). 2012 Aug;26(8):1039-43. doi: 10.1038/eye.2012.80. Epub 2012 Jun 1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG.

Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.

Milone M, McEvoy KM, Sorenson EJ, Daube JR.

Muscle Nerve. 2012 Jun;45(6):897-900. doi: 10.1002/mus.23270.

Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, Pagliarani S, Corti S, Magri F, Raimondi M, D'Angelo G, Modoni A, Bresolin N, Meola G, Wanke E, Comi GP, Lucchiari S.

J Neurol Sci. 2012 Jul 15;318(1-2):65-71. doi: 10.1016/j.jns.2012.03.024. Epub 2012 Apr 21.

Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M.

Muscle Nerve. 2012 Feb;45(2):279-83. doi: 10.1002/mus.22252.

Zielonka D, Jurkat-Rott K, Stachowiak P, Bryl A, Marcinkowski JT, Lehmann-Horn F.

Neuromuscul Disord. 2012 Apr;22(4):355-60. doi: 10.1016/j.nmd.2011.10.024. Epub 2011 Dec 23.

Lehmann-Horn F, Orth M, Kuhn M, Jurkat-Rott K.

Acta Myol. 2011 Oct;30(2):133-7.

Mazón MJ, Barros F, De la Peña P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.

Neuromuscul Disord. 2012 Mar;22(3):231-43. doi: 10.1016/j.nmd.2011.10.013. Epub 2011 Nov 16.

Burge JA, Hanna MG.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):62-9. doi: 10.1007/s11910-011-0238-3. Review.

Tsujino A, Kaibara M, Hayashi H, Eguchi H, Nakayama S, Sato K, Fukuda T, Tateishi Y, Shirabe S, Taniyama K, Kawakami A.

Neurosci Lett. 2011 Apr 25;494(2):155-60. doi: 10.1016/j.neulet.2011.03.002. Epub 2011 Mar 6.

Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R, Udd B.

Eur J Hum Genet. 2011 Jul;19(7):776-82. doi: 10.1038/ejhg.2011.23. Epub 2011 Mar 2.

Machuca-Tzili LE, Buxton S, Thorpe A, Timson CM, Wigmore P, Luther PK, Brook JD.

Dis Model Mech. 2011 May;4(3):381-92. doi: 10.1242/dmm.004150. Epub 2011 Feb 8.

Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M.

J Clin Neurophysiol. 2011 Feb;28(1):39-44. doi: 10.1097/WNP.0b013e31820510d7.

Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.

Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19.

Gao F, Ma FC, Yuan ZF, Yang CW, Li HF, Xia ZZ, Shui QX, Jiang KW.

Neurol India. 2010 Sep-Oct;58(5):743-6. doi: 10.4103/0028-3886.72163.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR.

Pediatr Neurol. 2010 May;42(5):365-8. doi: 10.1016/j.pediatrneurol.2010.01.014.