Publications:

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The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Neural Regeneration Research

Martinelli, Ilaria I; Zucchi, Elisabetta E; Simonini, Cecilia C; Gianferrari, Giulia G; Zamboni, Giovanna G; Pinti, Marcello M; Mandrioli, Jessica J

Publication Date: 2023-07

Variant appearance in text: SOD1: V88A

PubMed Link: 36571338

Variant Present in the following documents:

• NRR-18-1427_Suppl2.pdf

View BVdb publication page

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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes

Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL

Publication Date: 2022-03-18

Variant appearance in text: SOD1: 263T>C; Val88Ala; rs1339283341

PubMed Link: 35328090

Variant Present in the following documents:

• genes-13-00537.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SOD1: V88A

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 6
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 5
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 4
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?

Bmc Neuroscience

Pal, Surinder S; Tiwari, Abha A; Sharma, Kaushal K; Sharma, Suresh Kumar SK

Publication Date: 2020-10-09

Variant appearance in text: SOD1: V88A

PubMed Link: 33036560

Variant Present in the following documents:

• Main text
• 12868_2020_Article_591.pdf

View BVdb publication page

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Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.

Scientific Reports

Hou, Lihua L; Jiao, Bin B; Xiao, Tingting T; Zhou, Lu L; Zhou, Zhifan Z; Du, Juan J; Yan, Xinxiang X; Wang, Junling J; Tang, Beisha B; Shen, Lu L

Publication Date: 2016-09-08

Variant appearance in text: SOD1: 263T>C

PubMed Link: 27604643

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: ALS1: V88A

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Translational Neurodegeneration

Yamashita, Satoshi S; Ando, Yukio Y

Publication Date: 2015

Variant appearance in text: SOD1: 263T>C

PubMed Link: 26213621

Variant Present in the following documents:

• 40035_2015_36_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SOD1: V88A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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