Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Stefan Pulst"'
Publikováno v:
eLife, Vol 6 (2017)
Metabotropic glutamate receptor 1 (mGluR1) function in Purkinje neurons (PNs) is essential for cerebellar development and for motor learning and altered mGluR1 signaling causes ataxia. Downstream of mGluR1, dysregulation of calcium homeostasis has be
Externí odkaz:
https://doaj.org/article/a182b3c838a7433ea168ea14aa58e75b
Autor:
Ka-Ho Wong, Emily Dennis, Lilly fagatele, Kacey Madsen, Megan Mckay, Elise Longnecker, Annie Fukushima, Gloria Slattum, Stephanie Lyden, Kathleen Digre, Michelle Miranda, Elisabeth Wilde, Karla Figueroa, Abby Forrest, Amir Arain, Laura Beeler, Marissa Castillo, Trieste Francis, Nicholas Frost, Sama Gilandehi, Crystal Neate, Angela Peters, Sarah Shapiro, Stefan Pulst, John Rose, Adam De Havenon, Stacey Clardy
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad5b7e313ea91d0f32c5e23b61458979
https://doi.org/10.1212/wnl.0000000000202190
https://doi.org/10.1212/wnl.0000000000202190
Autor:
Yoji Hoshina, Melissa Wright, Judith Warner, Tyler Richards, Karen Salzman, Stefan Pulst, Emily Spoth, Stacey Clardy
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab0463d208a52f48ac42f5651404d867
https://doi.org/10.1212/wnl.0000000000202272
https://doi.org/10.1212/wnl.0000000000202272
Publikováno v:
Neurology Genetics. 8:e670
In 2011, a pathogenic hexanucleotide repeat expansion in the C9ORF72 gene was discovered to be the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Before this, the C9ORF72 gene and its protein were unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db488d9a3b536cd0b2013e4cc7f1a7fe
https://doi.org/10.1212/nxg.0000000000000670
https://doi.org/10.1212/nxg.0000000000000670
Autor:
Stefan Pulst
Publikováno v:
Neurology Genetics. 8:e671
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27337de4b2b0fd9fa7f8e7bc9cf3492d
https://doi.org/10.1212/nxg.0000000000000671
https://doi.org/10.1212/nxg.0000000000000671
Publikováno v:
Advances in neurology. 94
We have mapped the distribution of torsinA, the protein that is mutated in dystonia type 1 (DYT1), during postnatal development in rat brain. TorsinA was expressed in most brain regions at postnatal day 7, and its expression became more intense and w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eceaa4b44542ec1e097c4c2d319aee83
https://pubmed.ncbi.nlm.nih.gov/14509655
https://pubmed.ncbi.nlm.nih.gov/14509655
