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Zeitschrift

neurogenetics

neurogenetics 1/2018

Ausgabe 1/2018

Inhaltsverzeichnis ( 8 Artikel )

06.12.2017 | Review Article | Ausgabe 1/2018

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

13.11.2017 | Original Article | Ausgabe 1/2018

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

18.11.2017 | Original Article | Ausgabe 1/2018

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

19.12.2017 | Original Article | Ausgabe 1/2018

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

10.01.2018 | Original Article | Ausgabe 1/2018

Monogenic disorders that mimic the phenotype of Rett syndrome

Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu

01.01.2018 | Short Communication | Ausgabe 1/2018

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

02.12.2017 | Short Communication | Ausgabe 1/2018

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

15.12.2017 | Short Communication | Ausgabe 1/2018

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, Care4Rare Canada Consortium

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