id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_dne3pmjbsbhlzlh4yjsvxcgdva	Christiane Zweier	CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila	2009.0	12	.pdf	application/pdf	8812	855	59	Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and Whereas the established synaptic role of NRXN1 suggests that synaptic defects contribute to the associated neuropsychiatric disorders and to severe MR as reported here, evidence for a synaptic role of the CNTNAP2-encoded protein CASPR2 has so far been lacking. an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and relatively homogenous group of 179 TCF4-mutation-negative patients, including two sibling pairs, represented a suitable study cohort for searching for additional candidate CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila	./cache/work_dne3pmjbsbhlzlh4yjsvxcgdva.pdf	./txt/work_dne3pmjbsbhlzlh4yjsvxcgdva.txt