Affiliation: Sleep Research Centre
- 6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomaliesDaniela Di Benedetto
Laboratory of Medical Genetics, I, R, C, C, S, Associazione Oasi Maria Santissima, Troina, Italy
Mol Cytogenet 6:4. 2013..abstract:..
- Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegiaM Fichera
Genetic Diagnostic Laboratory, IRCCS Oasi M SS Troina, Italy
Neurology 63:1108-10. 2004..Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity...
- Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndromeVincenza Barresi
Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Catania, Italy
BMC Med Genomics 3:28. 2010..In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age...
- A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegiaMariangela Lo Giudice
Genetic Diagnostic Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Oasi Maria SS, Troina, Italy
Arch Neurol 63:284-7. 2006..To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been identified as the molecular cause of early-onset autosomal dominant hereditary spastic paraparesis (ADHSP)...