Publications:

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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Neurology. Genetics

Baviera-Muñoz, Raquel R; Carretero-Vilarroig, Lidón L; Vázquez-Costa, Juan Francisco JF; Morata-Martínez, Carlos C; Campins-Romeu, Marina M; Muelas, Nuria N; Sastre-Bataller, Isabel I; Martínez-Torres, Irene I; Pérez-García, Julia J; Sivera, Rafael R; Sevilla, Teresa T; Vilchez, Juan J JJ; Jaijo, Teresa T; Espinós, Carmen C; Millán, Jose M JM; Bataller, Luis L; Aller, Elena E

Publication Date: 2022-12

Variant appearance in text: rs72547552

PubMed Link: 36530930

Variant Present in the following documents:

• NXG-2022-200041.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: SPG7: 1729G>A; G577S; rs72547552

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One

Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2020

Variant appearance in text: SPG7: Gly577Ser

PubMed Link: 32315351

Variant Present in the following documents:

• pone.0231728.s001.pdf

View BVdb publication page

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SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca2+ influx, and regulation of mitochondrial permeability transition pore opening.

The Journal Of Biological Chemistry

Hurst, Stephen S; Baggett, Ariele A; Csordas, Gyorgy G; Sheu, Shey-Shing SS

Publication Date: 2019-07-12

Variant appearance in text: SPG7: G577S

PubMed Link: 31097542

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics

Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2018-07-06

Variant appearance in text: SPG7: Gly577Ser

PubMed Link: 29980210

Variant Present in the following documents:

• 12920_2018_372_MOESM1_ESM.pdf

View BVdb publication page

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SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.

Molecular Cell

Shanmughapriya, Santhanam S; Rajan, Sudarsan S; Hoffman, Nicholas E NE; Higgins, Andrew M AM; Tomar, Dhanendra D; Nemani, Neeharika N; Hines, Kevin J KJ; Smith, Dylan J DJ; Eguchi, Akito A; Vallem, Sandhya S; Shaikh, Farah F; Cheung, Maggie M; Leonard, Nicole J NJ; Stolakis, Ryan S RS; Wolfers, Matthew P MP; Ibetti, Jessica J; Chuprun, J Kurt JK; Jog, Neelakshi R NR; Houser, Steven R SR; Koch, Walter J WJ; Elrod, John W JW; Madesh, Muniswamy M

Publication Date: 2015-10-01

Variant appearance in text: SPG7: G577S

PubMed Link: 26387735

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72547552

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Jama Neurology

Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF

Publication Date: 2014-10

Variant appearance in text: SPG7: 1729G>A; Gly577Ser

PubMed Link: 25133958

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72547552

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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