Publications:

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Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Frontiers In Aging Neuroscience

Rossi, Giacomina G; Salvi, Erika E; Mehmeti, Elkadia E; Ricci, Martina M; Villa, Cristina C; Prioni, Sara S; Moda, Fabio F; Di Fede, Giuseppe G; Tiraboschi, Pietro P; Redaelli, Veronica V; Coppola, Cinzia C; Koch, Giacomo G; Canu, Elisa E; Filippi, Massimo M; Agosta, Federica F; Giaccone, Giorgio G; Caroppo, Paola P

Publication Date: 2022

Variant appearance in text: OPTN: 941A>T; Q314L

PubMed Link: 36570531

Variant Present in the following documents:

• fnagi-14-1085406.pdf

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S

Publication Date: 2022

Variant appearance in text: OPTN: 941A>T; Gln314Leu

PubMed Link: 36133075

Variant Present in the following documents:

• Main text
• fnagi-14-969817.pdf

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Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Journal Of Neurology

Bartoletti-Stella, Anna A; Vacchiano, Veria V; De Pasqua, Silvia S; Mengozzi, Giacomo G; De Biase, Dario D; Bartolomei, Ilaria I; Avoni, Patrizia P; Rizzo, Giovanni G; Parchi, Piero P; Donadio, Vincenzo V; Chiò, Adriano A; Pession, Annalisa A; Oppi, Federico F; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S; ,

Publication Date: 2021-10

Variant appearance in text: OPTN: 941A>T; Gln314Leu

PubMed Link: 33770234

Variant Present in the following documents:

• Main text
• 415_2021_Article_10521.pdf

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Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

International Journal Of Molecular Sciences

Scarlino, Stefania S; Domi, Teuta T; Pozzi, Laura L; Romano, Alessandro A; Pipitone, Giovanni Battista GB; Falzone, Yuri Matteo YM; Mosca, Lorena L; Penco, Silvana S; Lunetta, Christian C; Sansone, Valeria V; Tremolizzo, Lucio L; Fazio, Raffaella R; Agosta, Federica F; Filippi, Massimo M; Carrera, Paola P; Riva, Nilo N; Quattrini, Angelo A

Publication Date: 2020-05-08

Variant appearance in text: OPTN: Gln314Leu

PubMed Link: 32397312

Variant Present in the following documents:

• Main text
• ijms-21-03346-s001.pdf
• ijms-21-03346.pdf

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Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Journal Of Clinical Medicine

Pensato, Viviana V; Magri, Stefania S; Bella, Eleonora Dalla ED; Tannorella, Pierpaola P; Bersano, Enrica E; Sorarù, Gianni G; Gatti, Marta M; Ticozzi, Nicola N; Taroni, Franco F; Lauria, Giuseppe G; Mariotti, Caterina C; Gellera, Cinzia C

Publication Date: 2020-02-03

Variant appearance in text: OPTN: Gln314Leu

PubMed Link: 32028661

Variant Present in the following documents:

• Main text
• jcm-09-00412.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: OPTN: Q314L; rs142812715

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.

Molecular Genetics & Genomic Medicine

Yu, Huiling H; Yu, Wenbo W; Luo, Su-Shan SS; Yang, Yu-Jie YJ; Liu, Feng-Tao FT; Zhang, Yue Y; Chen, Yan Y; Sun, Yi-Min YM; Wu, Jian-Jun JJ

Publication Date: 2019-03

Variant appearance in text: OPTN: Gln314Leu

PubMed Link: 30672142

Variant Present in the following documents:

• Main text

View BVdb publication page

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ALS-Associated E478G Mutation in Human OPTN (Optineurin) Promotes Inflammation and Induces Neuronal Cell Death.

Frontiers In Immunology

Liu, Zhengzhao Z; Li, Hongming H; Hong, Chungu C; Chen, Menglu M; Yue, Tao T; Chen, Chunyuan C; Wang, Zhenxing Z; You, Qing Q; Li, Chuanyin C; Weng, Qinjie Q; Xie, Hui H; Hu, Ronggui R

Publication Date: 2018

Variant appearance in text: OPTN: Q314L

PubMed Link: 30519240

Variant Present in the following documents:

• Main text
• fimmu-09-02647.pdf

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Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.

Frontiers In Immunology

Toth, Reka P RP; Atkin, Julie D JD

Publication Date: 2018

Variant appearance in text: OPTN: Q314L

PubMed Link: 29875767

Variant Present in the following documents:

• Main text
• fimmu-09-01017.pdf

View BVdb publication page

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Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Neurobiology Of Aging

Black, Holly A HA; Leighton, Danielle J DJ; Cleary, Elaine M EM; Rose, Elaine E; Stephenson, Laura L; Colville, Shuna S; Ross, David D; Warner, Jon J; Porteous, Mary M; Gorrie, George H GH; Swingler, Robert R; Goldstein, David D; Harms, Matthew B MB; Connick, Peter P; Pal, Suvankar S; Aitman, Timothy J TJ; Chandran, Siddharthan S

Publication Date: 2017-03

Variant appearance in text: OPTN: Q314L

PubMed Link: 28089114

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord.

Plos One

Brohawn, David G DG; O'Brien, Laura C LC; Bennett, James P JP

Publication Date: 2016

Variant appearance in text: OPTN: Q314L

PubMed Link: 27487029

Variant Present in the following documents:

• pone.0160520.s017.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: OPTN: Q314L

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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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs142812715

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Annals Of Neurology

Cady, Janet J; Allred, Peggy P; Bali, Taha T; Pestronk, Alan A; Goate, Alison A; Miller, Timothy M TM; Mitra, Robi D RD; Ravits, John J; Harms, Matthew B MB; Baloh, Robert H RH

Publication Date: 2015-01

Variant appearance in text: OPTN: 941A>T; Q314L; rs142812715

PubMed Link: 25382069

Variant Present in the following documents:

• Main text

View BVdb publication page

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