LRRK2 c.3340T>C ;(p.L1114=)

Variant ID: 12-40692288-T-C

NM_198578.3(LRRK2):c.3340T>C;(p.L1114=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Genomic Markers for Essential Tremor.

Pharmaceuticals (Basel, Switzerland)
Jiménez-Jiménez, Félix Javier FJ; Alonso-Navarro, Hortensia H; García-Martín, Elena E; Álvarez, Ignacio I; Pastor, Pau P; Agúndez, José A G JAG
Publication Date: 2021-05-27

Variant appearance in text: LRRK2: L1114L
PubMed Link: 34072005
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00516.pdf
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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: LRRK2: L1114L
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Association of caffeine and related analytes with resistance to Parkinson disease among LRRK2 mutation carriers: A metabolomic study.

Neurology
Crotty, Grace F GF; Maciuca, Romeo R; Macklin, Eric A EA; Wang, Junhua J; Montalban, Manuel M; Davis, Sonnet S SS; Alkabsh, Jamal I JI; Bakshi, Rachit R; Chen, Xiqun X; Ascherio, Alberto A; Astarita, Giuseppe G; Huntwork-Rodriguez, Sarah S; Schwarzschild, Michael A MA
Publication Date: 2020-12-15

Variant appearance in text: LRRK2: L1114L
PubMed Link: 32999056
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2020103689.pdf
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Genetic Risk Factors for Essential Tremor: A Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Siokas, Vasileios V; Aloizou, Athina-Maria AM; Tsouris, Zisis Z; Liampas, Ioannis I; Aslanidou, Paraskevi P; Dastamani, Metaxia M; Brotis, Alexandros G AG; Bogdanos, Dimitrios P DP; Hadjigeorgiou, Georgios M GM; Dardiotis, Efthimios E
Publication Date: 2020-06-11

Variant appearance in text: LRRK2: L1114L
PubMed Link: 32775018
Variant Present in the following documents:
  • tohm-10-1-67-s2.pdf
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The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives.

Brain Sciences
García, Julio-César JC; Bustos, Rosa-Helena RH
Publication Date: 2018-12-13

Variant appearance in text: LRRK2: L1114L
PubMed Link: 30551598
Variant Present in the following documents:
  • Main text
  • brainsci-08-00222.pdf
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Essential tremor.

Handbook Of Clinical Neurology
Clark, Lorraine N LN; Louis, Elan D ED
Publication Date: 2018

Variant appearance in text: LRRK2: L1114L
PubMed Link: 29325613
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics and neuropathology of Parkinson's disease.

Acta Neuropathologica
Houlden, Henry H; Singleton, Andrew B AB
Publication Date: 2012-09

Variant appearance in text: LRRK2: L1114L
PubMed Link: 22806825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.

Archives Of Neurology
Alcalay, Roy N RN; Mejia-Santana, Helen H; Tang, Ming Xin MX; Rosado, Llency L; Verbitsky, Miguel M; Kisselev, Sergey S; Ross, Barbara M BM; Louis, Elan D ED; Comella, Cynthia L CL; Colcher, Amy A; Jennings, Danna D; Nance, Martha A MA; Bressman, Susan S; Scott, William K WK; Tanner, Caroline C; Mickel, Susan F SF; Andrews, Howard F HF; Waters, Cheryl H CH; Fahn, Stanley S; Cote, Lucien J LJ; Frucht, Steven J SJ; Ford, Blair B; Rezak, Michael M; Novak, Kevin K; Friedman, Joseph H JH; Pfeiffer, Ronald R; Marsh, Laura L; Hiner, Bradley B; Siderowf, Andrew A; Caccappolo, Elise E; Ottman, Ruth R; Clark, Lorraine N LN; Marder, Karen S KS
Publication Date: 2009-12

Variant appearance in text: LRRK2: L1114L
PubMed Link: 20008657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Parkinsonism & Related Disorders
Clark, Lorraine N LN; Kisselev, Sergey S; Park, Naeun N; Ross, Barbara B; Verbitsky, Miguel M; Rios, Eileen E; Alcalay, Roy N RN; Lee, Joseph H JH; Louis, Elan D ED
Publication Date: 2010-02

Variant appearance in text: LRRK2: L1114L
PubMed Link: 19527940
Variant Present in the following documents:
  • Main text
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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: L1114L
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
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Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

Archives Of Neurology
Wang, Yuanjia Y; Clark, Lorraine N LN; Louis, Elan D ED; Mejia-Santana, Helen H; Harris, Juliette J; Cote, Lucien J LJ; Waters, Cheryl C; Andrews, Howard H; Ford, Blair B; Frucht, Steven S; Fahn, Stanley S; Ottman, Ruth R; Rabinowitz, Daniel D; Marder, Karen K
Publication Date: 2008-04

Variant appearance in text: LRRK2: L1114L
PubMed Link: 18413468
Variant Present in the following documents:
  • Main text
View BVdb publication page