Zappella Variant of Rett Syndrome

26.10.2012 18:04

 qualche pubblicazione sulla Zappella Variant of Rett Syndrome:

 

^ (1992) The Rett girls with preserved speech Brain & development 14 (2): 98–101. 

^ (1995) Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant Neuropediatrics 26 (2): 87. 

^ (1998) The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases   Journal of autism and developmental disorders 28 (6): 519–26. DOI:10.1023/A:1026052128305. 

^ (2001) Social facilitation of object-oriented hand use in a Rett syndrome variant girl: implications for partial preservation of an hypothesized specialized cerebral network   Journal of developmental and behavioral pediatrics : JDBP 22 (2): 119–22.

^ (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)   Brain & development 31 (3): 208–16. DOI:10.1016/j.braindev.2008.04.007. 

^ (2009) Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome   Journal of Autism and Developmental Disorders 39 (6): 958–61. DOI:10.1007/s10803-009-0703-x. 

^ (2010) EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome   Clinical neurophysiology: official journal of the International Federation of Clinical Neurophysiology 121: 652–657. DOI:10.1016/j.clinph.2010.01.003. 

 

Link utili:

Biobanca genetica presso Genetica Medica dell'Università di Siena

Associazione italiana Sindrome di Rett

International Rett Syndrome Association (IREA)