Publications:

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Lipidomics of Bioactive Lipids in Alzheimer's and Parkinson's Diseases: Where Are We?

International Journal Of Molecular Sciences

Chiurchiù, Valerio V; Tiberi, Marta M; Matteocci, Alessandro A; Fazio, Federico F; Siffeti, Hasibullah H; Saracini, Stefano S; Mercuri, Nicola Biagio NB; Sancesario, Giuseppe G

Publication Date: 2022-06-02

Variant appearance in text: F2: L444P

PubMed Link: 35682914

Variant Present in the following documents:

• ijms-23-06235.pdf

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Curated variation benchmarks for challenging medically relevant autosomal genes.

Nature Biotechnology

Wagner, Justin J; Olson, Nathan D ND; Harris, Lindsay L; McDaniel, Jennifer J; Cheng, Haoyu H; Fungtammasan, Arkarachai A; Hwang, Yih-Chii YC; Gupta, Richa R; Wenger, Aaron M AM; Rowell, William J WJ; Khan, Ziad M ZM; Farek, Jesse J; Zhu, Yiming Y; Pisupati, Aishwarya A; Mahmoud, Medhat M; Xiao, Chunlin C; Yoo, Byunggil B; Sahraeian, Sayed Mohammad Ebrahim SME; Miller, Danny E DE; Jáspez, David D; Lorenzo-Salazar, José M JM; Muñoz-Barrera, Adrián A; Rubio-Rodríguez, Luis A LA; Flores, Carlos C; Narzisi, Giuseppe G; Evani, Uday Shanker US; Clarke, Wayne E WE; Lee, Joyce J; Mason, Christopher E CE; Lincoln, Stephen E SE; Miga, Karen H KH; Ebbert, Mark T W MTW; Shumate, Alaina A; Li, Heng H; Chin, Chen-Shan CS; Zook, Justin M JM; Sedlazeck, Fritz J FJ

Publication Date: 2022-05

Variant appearance in text: F2: L444P

PubMed Link: 35132260

Variant Present in the following documents:

• NIHMS1756297-supplement-Supplementary_Data_1.xlsx, sheet 7

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Map2k5-Deficient Mice Manifest Phenotypes and Pathological Changes of Dopamine Deficiency in the Central Nervous System.

Frontiers In Aging Neuroscience

Huang, Yumeng Y; Wang, Pei P; Morales, Rodrigo R; Luo, Qi Q; Ma, Jianfang J

Publication Date: 2021

Variant appearance in text: F2: L444P

PubMed Link: 34168549

Variant Present in the following documents:

• fnagi-13-651638.pdf

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The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.

Ebiomedicine

Fog, Cathrine K CK; Zago, Paola P; Malini, Erika E; Solanko, Lukasz M LM; Peruzzo, Paolo P; Bornaes, Claus C; Magnoni, Raffaella R; Mehmedbasic, Arnela A; Petersen, Nikolaj H T NHT; Bembi, Bruno B; Aerts, Johannes F M G JFMG; Dardis, Andrea A; Kirkegaard, Thomas T

Publication Date: 2018-12

Variant appearance in text: F2: L444P

PubMed Link: 30497978

Variant Present in the following documents:

• main.pdf

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Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

Journal Of Neurology

Tonin, Rodolfo R; Catarzi, Serena S; Caciotti, Anna A; Procopio, Elena E; Marini, Carla C; Guerrini, Renzo R; Morrone, Amelia A

Publication Date: 2019-01

Variant appearance in text: F2: Leu444Pro

PubMed Link: 30382391

Variant Present in the following documents:

• Main text
• 415_2018_Article_9084.pdf

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Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Neurobiology Of Aging

Ouled Amar Bencheikh, Bouchra B; Leveille, Etienne E; Ruskey, Jennifer A JA; Spiegelman, Dan D; Liong, Christopher C; Fon, Edward A EA; Rouleau, Guy A GA; Dauvilliers, Yves Y; Dupre, Nicolas N; Alcalay, Roy N RN; Gan-Or, Ziv Z

Publication Date: 2018-12

Variant appearance in text: F2: L444P

PubMed Link: 30037697

Variant Present in the following documents:

• Main text

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Accuracy Improvement for Predicting Parkinson's Disease Progression.

Scientific Reports

Nilashi, Mehrbakhsh M; Ibrahim, Othman O; Ahani, Ali A

Publication Date: 2016-09-30

Variant appearance in text: F2: L444P

PubMed Link: 27686748

Variant Present in the following documents:

• srep34181.pdf

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Progressive decline of glucocerebrosidase in aging and Parkinson's disease.

Annals Of Clinical And Translational Neurology

Rocha, Emily M EM; Smith, Gaynor A GA; Park, Eric E; Cao, Hongmei H; Brown, Eilish E; Hallett, Penelope P; Isacson, Ole O

Publication Date: 2015-04

Variant appearance in text: F2: L444P

PubMed Link: 25909088

Variant Present in the following documents:

• acn30002-0433.pdf

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