Volume 17; Issue 3

Main
neurogenetics
Volume 17; Issue 3

neurogenetics

Volume 17; Issue 3

1

Up-regulation ofSNCAgene expression: implications to synucleinopathies

Tagliafierro, L., Chiba-Falek, O.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 674 KB

english, 2016

2

Mutations inHIVEP2are associated with developmental delay, intellectual disability, and dysmorphic features

Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 384 KB

english, 2016

3

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Platonov, Fedor A., Tyryshkin, Kathrin, Tikhonov, Dmitriy G., Neustroyeva, Tatyana S., Sivtseva, Tatyana M., Yakovleva, Natalya V., Nikolaev, Valerian P., Sidorova, Oksana G., Kononova, Sardana K., Go

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 391 KB

english, 2016

4

Homozygous mutation in theAPOA1BPis associated with a lethal infantile leukoencephalopathy

Spiegel, Ronen, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 369 KB

english, 2016

5

A recurrentde novoCTBP1mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

Beck, David B., Cho, Megan T., Millan, Francisca, Yates, Carin, Hannibal, Mark, O’Connor, Bridget, Shinawi, Marwan, Connolly, Anne M., Waggoner, Darrel, Halbach, Sara, Angle, Brad, Sanders, Victoria,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2016

6

Alzheimer’s disease risk genes in wild-type adult zebrafish exhibit gender-specific expression changes during aging

Lee, Jinyoung, Peterson, Samuel M., Freeman, Jennifer L.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2016

7

microRNA profiling: increased expression ofmiR-147aandmiR-518ein progressive supranuclear palsy (PSP)

Tatura, Roman, Buchholz, Malte, Dickson, Dennis W., van Swieten, John, McLean, Catriona, Höglinger, Günter, Müller, Ulrich

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 404 KB

english, 2016

8

Very mild features of dysequilibrium syndrome associated with a novelVLDLRmissense mutation

Micalizzi, Alessia, Moroni, Isabella, Ginevrino, Monia, Biagini, Tommaso, Mazza, Tommaso, Romani, Marta, Valente, Enza Maria

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 656 KB

english, 2016