Works matching IS 13646745 AND DT 2015 AND VI 16 AND IP 4

Results: 10

Splicing: is there an alternative contribution to Parkinson's disease?

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 245, doi. 10.1007/s10048-015-0449-x

By:

La Cognata, Valentina;
D'Agata, Velia;
Cavalcanti, Francesca;
Cavallaro, Sebastiano

Publication type:

Article

Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 265, doi. 10.1007/s10048-015-0451-3

By:

Sasaki, Atsushi;
Kakita, Akiyoshi;
Yoshida, Kunihiro;
Konno, Takuya;
Ikeuchi, Takeshi;
Hayashi, Shintaro;
Matsuo, Hidenori;
Shioda, Kei

Publication type:

Article

Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 277, doi. 10.1007/s10048-015-0450-4

By:

Yang, Andy;
Sachs, Andrew;
Nystuen, Arne

Publication type:

Article

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 299, doi. 10.1007/s10048-015-0453-1

By:

Ullah, Muhammad;
Ahmad, Arsalan;
Raza, Syed;
Amar, Ali;
Ali, Amjad;
Bhatti, Attya;
John, Peter;
Mohyuddin, Aisha;
Ahmad, Wasim;
Hassan, Muhammad

Publication type:

Article

Mutations in ARID2 are associated with intellectual disabilities.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 307, doi. 10.1007/s10048-015-0454-0

By:

Shang, Linshan;
Cho, Megan;
Retterer, Kyle;
Folk, Leandra;
Humberson, Jennifer;
Rohena, Luis;
Sidhu, Alpa;
Saliganan, Sheila;
Iglesias, Alejandro;
Vitazka, Patrik;
Juusola, Jane;
O'Donnell-Luria, Anne;
Shen, Yufeng;
Chung, Wendy

Publication type:

Article

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 315, doi. 10.1007/s10048-015-0455-z

By:

Noreau, Anne;
Piana, Roberta;
Marcoux, Camille;
Dion, Patrick;
Brais, Bernard;
Bernard, Geneviève;
Rouleau, Guy

Publication type:

Article

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/ PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 287, doi. 10.1007/s10048-015-0452-2

By:

Córdova-Fletes, Carlos;
Domínguez, Ma.;
Delint-Ramirez, Ilse;
Martínez-Rodríguez, Herminia;
Rivas-Estilla, Ana;
Barros-Núñez, Patricio;
Ortiz-López, Rocío;
Neira, Vivian

Publication type:

Article

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 325, doi. 10.1007/s10048-015-0456-y

By:

Pierson, T.;
Nezhad, Mani;
Tremblay, Matthew;
Lewis, Richard;
Wong, Derek;
Salamon, Noriko;
Sicotte, Nancy

Publication type:

Article

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 319, doi. 10.1007/s10048-015-0444-2

By:

Distelmaier, Felix;
Haack, Tobias;
Catarino, Claudia;
Gallenmüller, Constanze;
Rodenburg, Richard;
Strom, Tim;
Baertling, Fabian;
Meitinger, Thomas;
Mayatepek, Ertan;
Prokisch, Holger;
Klopstock, Thomas

Publication type:

Article

Acknowledgement to Referees 2014/2015.

Published in:: Neurogenetics, 2015, v. 16, n. 4, p. 329, doi. 10.1007/s10048-015-0457-x
Publication type:: Article