Spinal muscular atrophy during human development: where are the early pathogenic findings?
Tizzano E. Adv Exp Med Biol. 2009;652:225-35
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Prader Willi syndrome patients: study of 77 patients
Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M. Med Clin (Barc). 2009 Nov 7;133(17):649-56. Epub 2009 Sep 13.
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Hum Mol Genet. 2009 Dec 1;18(23):4603-14. Epub 2009 Sep 10
Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome
Jones KL, Hoyme HE, Robinson LK, del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695
