Works matching IS 13646745 AND DT 2017 AND VI 18 AND IP 3

Results: 8

Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 141, doi. 10.1007/s10048-017-0516-6

By:

Leshinsky-Silver, Esther;
Ling, Jiqiang;
Wu, Jiang;
Vinkler, Chana;
Yosovich, Keren;
Bahar, Sarit;
Yanoov-Sharav, Miri;
Lerman-Sagie, Tally;
Lev, Dorit

Publication type:

Article

Pain insensitivity: distal S6-segment mutations in Na1.9 emerge as critical hotspot.

Published in:

2017

By:

King, Margaret;
Leipold, Enrico;
Goehringer, Jessica;
Kurth, Ingo;
Challman, Thomas

Publication type:

Letter

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 121, doi. 10.1007/s10048-017-0514-8

By:

Murthy, Megha;
Blauwendraat, Cornelis;
Guelfi, Sebastian;
Hardy, John;
Lewis, Patrick;
Trabzuni, Daniah

Publication type:

Article

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 135, doi. 10.1007/s10048-017-0515-7

By:

Shahrour, Maher;
Ashhab, Motee;
Edvardson, Simon;
Gur, Michal;
Abu-Libdeh, Bassam;
Elpeleg, Orly

Publication type:

Article

Male patients affected by mosaic PCDH19 mutations: five new cases.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 147, doi. 10.1007/s10048-017-0517-5

By:

Lange, I.;
Rump, P.;
Neuteboom, R.;
Augustijn, P.;
Hodges, K.;
Kistemaker, A.;
Brouwer, O.;
Mancini, G.;
Newman, H.;
Vos, Y.;
Helbig, K.;
Peeters-Scholte, C.;
Kriek, M.;
Knoers, N.;
Lindhout, D.;
Koeleman, B.;
Kempen, M.;
Brilstra, E.

Publication type:

Article

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 175, doi. 10.1007/s10048-017-0518-4

By:

Carecchio, Miryam;
Picillo, Marina;
Valletta, Lorella;
Elia, Antonio;
Haack, Tobias;
Cozzolino, Autilia;
Vitale, Annalisa;
Garavaglia, Barbara;
Iuso, Arcangela;
Bagella, Caterina;
Pappatà, Sabina;
Barone, Paolo;
Prokisch, Holger;
Romito, Luigi;
Tiranti, Valeria

Publication type:

Article

Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 155, doi. 10.1007/s10048-017-0519-3

By:

Punchaichira, Toyanji;
Dey, Sanjay;
Mukhopadhyay, Anirban;
Kundu, Suman;
Thelma, B.

Publication type:

Article

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.

Published in:

Neurogenetics, 2017, v. 18, n. 3, p. 169, doi. 10.1007/s10048-017-0512-x

By:

Hsiao, Meng-Chang;
Piotrowski, Arkadiusz;
Poplawski, Andrzej;
Callens, Tom;
Fu, Chuanhua;
Messiaen, Ludwine

Publication type:

Article