PubMed

Cheng YZ, Eley L, Hynes AM, Overman LM, Simms RJ, Barker A, Dawe HR, Lindsay S, Sayer JA.

PLoS One. 2012;7(9):e44975. doi: 10.1371/journal.pone.0044975. Epub 2012 Sep 24.

Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N.

Proc Natl Acad Sci U S A. 2012 Oct 16;109(42):16951-6. doi: 10.1073/pnas.1201408109. Epub 2012 Oct 1.

Paprocka J, Jamroz E.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. Review.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

Karp N, Grosse-Wortmann L, Bowdin S.

Eur J Med Genet. 2012 Nov;55(11):605-10. doi: 10.1016/j.ejmg.2012.07.010. Epub 2012 Aug 3. Review.

Ghosh PS, Moodley M.

J Paediatr Child Health. 2012 Aug;48(8):709, 714. doi: 10.1111/j.1440-1754.2012.02514_1.x. No abstract available.

Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL.

Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15.

Malaki M, Nemati M, Shoaran M.

Saudi J Kidney Dis Transpl. 2012 Mar;23(2):325-9.

Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J.

Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22.

Juric-Sekhar G, Adkins J, Doherty D, Hevner RF.

Acta Neuropathol. 2012 May;123(5):695-709. doi: 10.1007/s00401-012-0951-2. Epub 2012 Feb 14.

Kumar HV, Loghmanee DA, Sheldon SH.

Am J Respir Crit Care Med. 2012 Feb 1;185(3):e3-4. doi: 10.1164/rccm.201101-0069IM. No abstract available.

Lacquaniti A, Chirico V, Donato V, Briuglia S, Cernaro V, Gallizzi R, Salpietro CD, Buemi M.

Ren Fail. 2012;34(4):495-8. doi: 10.3109/0886022X.2011.649677. Epub 2012 Jan 20.

Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG.

Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078.

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D.

J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552.

Vogel TW, Dlouhy BJ, Menezes AH.

Childs Nerv Syst. 2012 Jul;28(7):1109-12. doi: 10.1007/s00381-012-1682-3. Epub 2012 Jan 10. No abstract available.

Singh J, Gathwala G, Agarwal S, Monika, Vaswani ND.

J Indian Med Assoc. 2011 May;109(5):348-9.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

Kamdar BB, Nandkumar P, Krishnan V, Gamaldo CE, Collop NA.

Pediatr Neurol. 2011 Dec;45(6):395-9. doi: 10.1016/j.pediatrneurol.2011.09.005.

Fabbri M, Vetrugno R, Provini F, Bosi M, Santucci M.

Mov Disord. 2012 Jan;27(1):64. doi: 10.1002/mds.23999. Epub 2011 Nov 17. No abstract available.

Poretti A, Singhi S, Huisman TA, Meoded A, Jallo G, Ozturk A, Boltshauser E, Tekes A.

Neuropediatrics. 2011 Aug;42(4):170-4. doi: 10.1055/s-0031-1287763. Epub 2011 Sep 19.