PubMed

Pedroso JL, Fusão EF, Ladeia-Frota C, Arita JH, Barsottini OG, Masruha MR, Vilanova LC.

Neurology. 2012 Nov 27;79(22):e189. doi: 10.1212/WNL.0b013e31827597bf.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W.

J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. Erratum in: J Biol Chem. 2013 Jan 4;288(1):296. Finkes, Sally [corrected to Firnkes, Sally].

Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K.

Hum Mol Genet. 2013 Jan 1;22(1):61-73. doi: 10.1093/hmg/dds401. Epub 2012 Sep 24.

Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ.

Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30.

Mukherjee SB, Pandey M, Kapoor S, Priya TP.

Indian Pediatr. 2012 Jun;49(6):490-2.

Gülhan B, Ozçelik U, Gürakan F, Güçer S, Orhan D, Cinel G, Yalçin E, Ersöz DD, Kiper N, Yüce A, Kale G.

Respir Med. 2012 Sep;106(9):1278-85. doi: 10.1016/j.rmed.2012.06.014. Epub 2012 Jul 10.

Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A.

Pediatr Neurol. 2012 Jul;47(1):40-3. doi: 10.1016/j.pediatrneurol.2012.04.005.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD.

Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22.

Taksir TV, Johnson J, Maloney CL, Yandl E, Griffiths D, Thurberg BL, Ryan S.

J Histochem Cytochem. 2012 Aug;60(8):620-9. doi: 10.1369/0022155412451129. Epub 2012 May 21.

Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM.

Am J Surg Pathol. 2012 Aug;36(8):1234-46. doi: 10.1097/PAS.0b013e31825793ff.

Hua R, Wu H, Cui Z, Chen JX, Wang Z.

Chin Med J (Engl). 2012 Apr;125(8):1511-2.

Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM.

Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14.

Mendes MS, Portela FX, Reis RC, Castro JD, Garcia JH, Holanda MA.

J Bras Pneumol. 2012 Apr;38(2):269-71. English, Portuguese. No abstract available.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group.

Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.

Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA.

Neurology. 2012 May 15;78(20):1560-7. doi: 10.1212/WNL.0b013e3182563b82. Epub 2012 Apr 18.

Iaselli F, Rea G, Cappabianca S, Fabozzi G, Montemarano M, Vitale C, Stanziola AA, Muto R, Rotondo A.

Monaldi Arch Chest Dis. 2011 Dec;75(4):235-40. Review.

Hong SB, Seo MS, Park SB, Seo YJ, Kim JS, Kang KS.

Cytotherapy. 2012 May;14(5):630-8. doi: 10.3109/14653249.2012.663485. Epub 2012 Mar 12.

Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM.

J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Epub 2012 Feb 28. Review.

Walterfang M, Macfarlane MD, Looi JC, Abel L, Bowman E, Fahey MC, Desmond P, Velakoulis D.

Eur J Neurol. 2012 Mar;19(3):462-7. doi: 10.1111/j.1468-1331.2011.03545.x.