Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.

Literature DB >> 29143421

PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.

Elahe Elahi^1,2.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Receptor, Adenosine A1

Year: 2017 PMID： 29143421 DOI： 10.1002/mds.27126

Source DB: PubMed Journal: Mov Disord ISSN： 0885-3185 Impact factor: 10.338

Keyword Cloud
Cited

× No keyword cloud information.

2 in total

1. Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.

Authors: Ghalia Al-Kasbi; Abeer Al-Saegh; Ahmed Al-Qassabi; Tariq Al-Jabry; Fahad Zadjali; Said Al-Yahyaee; Almundher Al-Maawali
Journal: Mov Disord Clin Pract Date: 2021-09-20

2. Functional Impact of the G279S Substitution in the Adenosine A₁-Receptor (A₁R-G279S^7.44), a Mutation Associated with Parkinson's Disease.

Authors: Shahrooz Nasrollahi-Shirazi; Daniel Szöllösi; Qiong Yang; Edin Muratspahic; Ali El-Kasaby; Sonja Sucic; Thomas Stockner; Christian Nanoff; Michael Freissmuth
Journal: Mol Pharmacol Date: 2020-09 Impact factor: 4.436

2 in total

PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.

1. Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.

2. Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S7.44), a Mutation Associated with Parkinson's Disease.

2. Functional Impact of the G279S Substitution in the Adenosine A₁-Receptor (A₁R-G279S^7.44), a Mutation Associated with Parkinson's Disease.