LRRK2 c.4323C>A ;(p.R1441=)

Variant ID: 12-40704238-C-A

NM_198578.3(LRRK2):c.4323C>A;(p.R1441=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: R1441R
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
View BVdb publication page



Dopamine Transporter, PhosphoSerine129 α-Synuclein and α-Synuclein Levels in Aged LRRK2 G2019S Knock-In and Knock-Out Mice.

Biomedicines
Domenicale, Chiara C; Mercatelli, Daniela D; Albanese, Federica F; Novello, Salvatore S; Vincenzi, Fabrizio F; Varani, Katia K; Morari, Michele M
Publication Date: 2022-04-12

Variant appearance in text: LRRK2: R1441R
PubMed Link: 35453631
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00881.pdf
View BVdb publication page



Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Movement Disorders : Official Journal Of The Movement Disorder Society
Schneider, Susanne A SA; Alcalay, Roy N RN
Publication Date: 2017-11

Variant appearance in text: LRRK2: R1441R
PubMed Link: 29124790
Variant Present in the following documents:
  • Main text
View BVdb publication page



The neuropathology of genetic Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Poulopoulos, Markos M; Levy, Oren A OA; Alcalay, Roy N RN
Publication Date: 2012-06

Variant appearance in text: LRRK2: R1441R
PubMed Link: 22451330
Variant Present in the following documents:
  • Main text
View BVdb publication page



Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta
Biskup, Saskia S; West, Andrew B AB
Publication Date: 2009-07

Variant appearance in text: LRRK2: R1441R
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
View BVdb publication page