Works matching IS 13646745 AND DT 2018 AND VI 19 AND IP 1

Results: 8

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 49, doi. 10.1007/s10048-018-0537-9

By:

Isohanni, Pirjo;
Carroll, Christopher J.;
Jackson, Christopher B.;
Pohjanpelto, Max;
Lönnqvist, Tuula;
Suomalainen, Anu

Publication type:

Article

Monogenic disorders that mimic the phenotype of Rett syndrome.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 41, doi. 10.1007/s10048-017-0535-3

By:

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

Publication type:

Article

A novel mutation in <italic>LAMC3</italic> associated with generalized polymicrogyria of the cortex and epilepsy.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 61, doi. 10.1007/s10048-017-0534-4

By:

Zambonin, J. L.;
Dyment, D. A.;
Xi, Y.;
Lamont, R. E.;
Hartley, T.;
Miller, E.;
Kerr, M.;
Care4Rare Canada Consortium;
Boycott, K. M.;
Parboosingh, J. S.;
Venkateswaran, S.

Publication type:

Article

The contribution of 7q33 copy number variations for intellectual disability.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 27, doi. 10.1007/s10048-017-0533-5

By:

Lopes, Fátima;
Torres, Fátima;
Lynch, Sally Ann;
Jorge, Arminda;
Sousa, Susana;
Silva, João;
Rendeiro, Paula;
Tavares, Purificação;
Fortuna, Ana Maria;
Maciel, Patrícia

Publication type:

Article

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 1, doi. 10.1007/s10048-017-0532-6

By:

Galatolo, Daniele;
Tessa, Alessandra;
Filla, Alessandro;
Santorelli, Filippo M.

Publication type:

Article

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 55, doi. 10.1007/s10048-017-0531-7

By:

Spiegler, Stefanie;
Rath, Matthias;
Hoffjan, Sabine;
Dammann, Philipp;
Sure, Ulrich;
Pagenstecher, Axel;
Strom, Tim;
Felbor, Ute

Publication type:

Article

<italic>ARHGEF9</italic> mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 9, doi. 10.1007/s10048-017-0528-2

By:

Wang, Jing-Yang;
Zhou, Peng;
Wang, Jie;
Tang, Bin;
Su, Tao;
Liu, Xiao-Rong;
Li, Bing-Mei;
Meng, Heng;
Shi, Yi-Wu;
Yi, Yong-Hong;
He, Na;
Liao, Wei-Ping

Publication type:

Article

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.

Published in:

Neurogenetics, 2018, v. 19, n. 1, p. 17, doi. 10.1007/s10048-017-0529-1

By:

Griswold, Anthony J.;
Van Booven, Derek;
Cuccaro, Michael L.;
Haines, Jonathan L.;
Gilbert, John R.;
Pericak-Vance, Margaret A.

Publication type:

Article