Issue 1/2018
Content (8 Articles)
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M. Santorelli
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation
Jing-Yang Wang, Peng Zhou, Jie Wang, Bin Tang, Tao Su, Xiao-Rong Liu, Bing-Mei Li, Heng Meng, Yi-Wu Shi, Yong-Hong Yi, Na He, Wei-Ping Liao
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder
Anthony J. Griswold, Derek Van Booven, Michael L. Cuccaro, Jonathan L. Haines, John R. Gilbert, Margaret A. Pericak-Vance
The contribution of 7q33 copy number variations for intellectual disability
Fátima Lopes, Fátima Torres, Sally Ann Lynch, Arminda Jorge, Susana Sousa, João Silva, Paula Rendeiro, Purificação Tavares, Ana Maria Fortuna, Patrícia Maciel
Monogenic disorders that mimic the phenotype of Rett syndrome
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth
Pirjo Isohanni, Christopher J. Carroll, Christopher B. Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing
Stefanie Spiegler, Matthias Rath, Sabine Hoffjan, Philipp Dammann, Ulrich Sure, Axel Pagenstecher, Tim Strom, Ute Felbor
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
J. L. Zambonin, D. A. Dyment, Y. Xi, R. E. Lamont, T. Hartley, E. Miller, M. Kerr, K. M. Boycott, J. S. Parboosingh, S. Venkateswaran