Works by Shatunov, Aleksey

Results: 24

Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD).

Published in:

Journal of Medical Internet Research, 2013, v. 15, n. 9, p. 1, doi. 10.2196/mhealth.2706

By:

Abel, Olubunmi;
Shatunov, Aleksey;
Jones, Ashley R;
Andersen, Peter M;
Powell, John F;
Al-Chalabi1, Ammar;
Eysenbach, G

Publication type:

Article

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Published in:

2024

By:

Opie-Martin, Sarah;
Iacoangeli, Alfredo;
Topp, Simon D.;
Abel, Olubunmi;
Mayl, Keith;
Mehta, Puja R.;
Shatunov, Aleksey;
Fogh, Isabella;
Bowles, Harry;
Limbachiya, Naomi;
Spargo, Thomas P.;
Al-Khleifat, Ahmad;
Williams, Kelly L.;
Jockel-Balsarotti, Jennifer;
Bali, Taha;
Self, Wade;
Henden, Lyndal;
Nicholson, Garth A.;
Ticozzi, Nicola;
McKenna-Yasek, Diane

Publication type:

Correction Notice

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

Published in:

2019

By:

Chen, Zhongbo;
Chen, Jason A.;
Shatunov, Aleksey;
Jones, Ashley R.;
Kravitz, Stephanie N.;
Huang, Alden Y.;
Lawrence, Lauren;
Lowe, Jennifer K.;
Lewis, Cathryn M.;
Payan, Christine A. M.;
Lieb, Wolfgang;
Franke, Andre;
Deloukas, Panagiotis;
Amouyel, Philippe;
Tzourio, Christophe;
Dartigues, Jean‐François;
Ludolph, Albert;
Bensimon, Gilbert;
Leigh, P. Nigel;
Bronstein, Jeff M.

Publication type:

journal article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Published in:

JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598

By:

Johnson, Janel O.;
Chia, Ruth;
Miller, Danny E.;
Li, Rachel;
Kumaran, Ravindran;
Abramzon, Yevgeniya;
Alahmady, Nada;
Renton, Alan E.;
Topp, Simon D.;
Gibbs, J. Raphael;
Cookson, Mark R.;
Sabir, Marya S.;
Dalgard, Clifton L.;
Troakes, Claire;
Jones, Ashley R.;
Shatunov, Aleksey;
Iacoangeli, Alfredo;
Al Khleifat, Ahmad;
Ticozzi, Nicola;
Silani, Vincenzo

Publication type:

Article

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Published in:

JAMA Neurology, 2016, v. 73, n. 7, p. 812, doi. 10.1001/jamaneurol.2016.1114

By:

Fogh, Isabella;
Kuang Lin;
Tiloca, Cinzia;
Rooney, James;
Gellera, Cinzia;
Diekstra, Frank P.;
Ratti, Antonia;
Shatunov, Aleksey;
van Es, Michael A.;
Proitsi, Petroula;
Jones, Ashley;
Sproviero, William;
Chiò, Adriano;
McLaughlin, Russell Lewis;
Sorarù, Gianni;
Corrado, Lucia;
Stahl, Daniel;
Del Bo, Roberto;
Cereda, Cristina;
Castellotti, Barbara

Publication type:

Article

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

Published in:

Neuropathology, 2012, v. 32, n. 5, p. 505, doi. 10.1111/j.1440-1789.2011.01286.x

By:

Troakes, Claire;
Maekawa, Satomi;
Wijesekera, Lokesh;
Rogelj, Boris;
Siklós, László;
Bell, Christopher;
Smith, Bradley;
Newhouse, Stephen;
Vance, Caroline;
Johnson, Lauren;
Hortobágyi, Tibor;
Shatunov, Aleksey;
Al-Chalabi, Ammar;
Leigh, Nigel;
Shaw, Christopher E.;
King, Andrew;
Al-Sarraj, Safa

Publication type:

Article

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34620-y

By:

Opie-Martin, Sarah;
Iacoangeli, Alfredo;
Topp, Simon D.;
Abel, Olubunmi;
Mayl, Keith;
Mehta, Puja R.;
Shatunov, Aleksey;
Fogh, Isabella;
Bowles, Harry;
Limbachiya, Naomi;
Spargo, Thomas P.;
Al-Khleifat, Ahmad;
Williams, Kelly L.;
Jockel-Balsarotti, Jennifer;
Bali, Taha;
Self, Wade;
Henden, Lyndal;
Nicholson, Garth A.;
Ticozzi, Nicola;
McKenna-Yasek, Diane

Publication type:

Article

Homozygosity analysis in amyotrophic lateral sclerosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1429, doi. 10.1038/ejhg.2013.59

By:

Mok, Kin;
Laaksovirta, Hannu;
Tienari, Pentti J;
Peuralinna, Terhi;
Myllykangas, Liisa;
Chiò, Adriano;
Traynor, Bryan J;
Nalls, Michael A;
Gurunlian, Nicole;
Shatunov, Aleksey;
Restagno, Gabriella;
Mora, Gabriele;
Nigel Leigh, P;
Shaw, Chris E;
Morrison, Karen E;
Shaw, Pamela J;
Al-Chalabi, Ammar;
Hardy, John;
Orrell, Richard W

Publication type:

Article

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 1, p. 102, doi. 10.1038/ejhg.2012.98

By:

Smith, Bradley N;
Newhouse, Stephen;
Shatunov, Aleksey;
Vance, Caroline;
Topp, Simon;
Johnson, Lauren;
Miller, Jack;
Lee, Younbok;
Troakes, Claire;
Scott, Kirsten M;
Jones, Ashley;
Gray, Ian;
Wright, Jamie;
Hortobágyi, Tibor;
Al-Sarraj, Safa;
Rogelj, Boris;
Powell, John;
Lupton, Michelle;
Lovestone, Simon;
Sapp, Peter C

Publication type:

Article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

Published in:

2016

By:

Prins, Bram. P.;
Abbasi, Ali;
Wong, Anson;
Vaez, Ahmad;
Nolte, Ilja;
Franceschini, Nora;
Stuart, Philip E.;
Guterriez Achury, Javier;
Mistry, Vanisha;
Bradfield, Jonathan P.;
Valdes, Ana M.;
Bras, Jose;
Shatunov, Aleksey;
null, null;
Lu, Chen;
Han, Buhm;
Raychaudhuri, Soumya;
Bevan, Steve;
Mayes, Maureen D.;
Tsoi, Lam C.

Publication type:

journal article

Author Correction: A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex.

Published in:

2022

By:

Jones, Ashley R.;
Iacoangeli, Alfredo;
Adey, Brett N.;
Bowles, Harry;
Shatunov, Aleksey;
Troakes, Claire;
Garson, Jeremy A.;
McCormick, Adele L.;
Al‑Chalabi, Ammar

Publication type:

Correction Notice

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

Published in:

Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0270-8

By:

Chen, Jason A.;
Chen, Zhongbo;
Won, Hyejung;
Huang, Alden Y.;
Lowe, Jennifer K.;
Wojta, Kevin;
Yokoyama, Jennifer S.;
Bensimon, Gilbert;
Leigh, P. Nigel;
Payan, Christine;
Shatunov, Aleksey;
Jones, Ashley R.;
Lewis, Cathryn M.;
Deloukas, Panagiotis;
Amouyel, Philippe;
Tzourio, Christophe;
Dartigues, Jean-Francois;
Ludolph, Albert;
Boxer, Adam L.;
Bronstein, Jeff M.

Publication type:

Article

Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019, v. 20, n. 3/4, p. 229, doi. 10.1080/21678421.2019.1586951

By:

Al Khleifat, Ahmad;
Iacoangeli, Alfredo;
Shatunov, Aleksey;
Fang, Ton;
Sproviero, William;
Jones, Ashley R.;
Opie-Martin, Sarah;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
Powell, John F.;
Dobson, Richard;
Newhouse, Steven J.;
Al-Chalabi, Ammar

Publication type:

Article

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019, v. 20, n. 3/4, p. 207, doi. 10.1080/21678421.2018.1562553

By:

Iacoangeli, Alfredo;
Al Khleifat, Ahmad;
Sproviero, William;
Shatunov, Aleksey;
Jones, Ashley R.;
Opie-Martin, Sarah;
Naselli, Ersilia;
Topp, Simon D.;
Fogh, Isabella;
Hodges, Angela;
Dobson, Richard J.;
Newhouse, Stephen J.;
Al-Chalabi, Ammar

Publication type:

Article

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 7/8/2016, p. 593, doi. 10.1080/21678421.2016.1213852

By:

Gaastra, Benjamin;
Shatunov, Aleksey;
Pulit, Sara;
Jones, Ashley R.;
Sproviero, William;
Gillett, Alexandra;
Chen, Zhongbo;
Kirby, Janine;
Fogh, Isabella;
Powell, John F.;
Leigh, P. Nigel;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
van den Berg, Leonard H.;
Veldink, Jan H.;
Lewis, Cathryn M.;
Al-Chalabi, Ammar

Publication type:

Article

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.

Published in:

NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00267-9

By:

Al Khleifat, Ahmad;
Iacoangeli, Alfredo;
van Vugt, Joke J. F. A.;
Bowles, Harry;
Moisse, Matthieu;
Zwamborn, Ramona A. J.;
van der Spek, Rick A. A.;
Shatunov, Aleksey;
Cooper-Knock, Johnathan;
Topp, Simon;
Byrne, Ross;
Gellera, Cinzia;
López, Victoria;
Jones, Ashley R.;
Opie-Martin, Sarah;
Vural, Atay;
Campos, Yolanda;
van Rheenen, Wouter;
Kenna, Brendan;
Van Eijk, Kristel R.

Publication type:

Article

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Published in:

2017

By:

Morgan, Sarah;
Shatunov, Aleksey;
Sproviero, William;
Jones, Ashley R.;
Shoai, Maryam;
Hughes, Deborah;
Al Khleifat, Ahmad;
Malaspina, Andrea;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
Sidle, Katie;
Orrell, Richard W.;
Fratta, Pietro;
Hardy, John;
Pittman, Alan;
Al-Chalabi, Ammar

Publication type:

journal article

An Evaluation of a SVA Retrotransposon in the <i>FUS</i> Promoter as a Transcriptional Regulator and Its Association to ALS.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090833

By:

Savage, Abigail L.;
Wilm, Thomas P.;
Khursheed, Kejhal;
Shatunov, Aleksey;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
Smith, Bradley;
Breen, Gerome;
Al-Chalabi, Ammar;
Moss, Diana;
Bubb, Vivien J.;
Quinn, John P.

Publication type:

Article

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed.

Published in:

Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab236

By:

Iacoangeli, Alfredo;
Fogh, Isabella;
Selvackadunco, Sashika;
Topp, Simon D.;
Shatunov, Aleksey;
van Rheenen, Wouter;
Al-Khleifat, Ahmad;
Opie-Martin, Sarah;
Ratti, Antonia;
Calvo, Andrea;
Van Damme, Philip;
Robberecht, Wim;
Chio, Adriano;
Dobson, Richard J.;
Hardiman, Orla;
Shaw, Christopher E.;
van den Berg, Leonard H.;
Andersen, Peter M.;
Smith, Bradley N.;
Silani, Vincenzo

Publication type:

Article

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS.

Published in:

Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0724-4

By:

Iacoangeli, Alfredo;
Al Khleifat, Ahmad;
Jones, Ashley R.;
Sproviero, William;
Shatunov, Aleksey;
Opie-Martin, Sarah;
Morrison, Karen E.;
Shaw, Pamela J.;
Shaw, Christopher E.;
Fogh, Isabella;
Dobson, Richard J.;
Newhouse, Stephen J.;
Al-Chalabi, Ammar

Publication type:

Article

A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93742-3

By:

Jones, Ashley R.;
Iacoangeli, Alfredo;
Adey, Brett N.;
Bowles, Harry;
Shatunov, Aleksey;
Troakes, Claire;
Garson, Jeremy A.;
McCormick, Adele L.;
Al-Chalabi, Ammar

Publication type:

Article

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 12, p. 1407, doi. 10.1016/j.jalz.2014.12.009

By:

Lill, Christina M.;
Rengmark, Aina;
Pihlstrøm, Lasse;
Fogh, Isabella;
Shatunov, Aleksey;
Sleiman, Patrick M.;
Wang, Li-San;
Liu, Tian;
Lassen, Christina F.;
Meissner, Esther;
Alexopoulos, Panos;
Calvo, Andrea;
Chio, Adriano;
Dizdar, Nil;
Faltraco, Frank;
Forsgren, Lars;
Kirchheiner, Julia;
Kurz, Alexander;
Larsen, Jan P.;
Liebsch, Maria

Publication type:

Article

lysosomal disease caused by mutant VPS33A.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2514, doi. 10.1093/hmg/ddz077

By:

Pavlova, Elena V;
Shatunov, Aleksey;
Wartosch, Lena;
Moskvina, Alena I;
Nikolaeva, Lena E;
Bright, Nicholas A;
Tylee, Karen L;
Church, Heather J;
Ballabio, Andrea;
Luzio, J Paul;
Cox, Timothy M

Publication type:

Article

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1916

By:

Goris, An;
van Setten, Jessica;
Diekstra, Frank;
Ripke, Stephan;
Patsopoulos, Nikolaos A.;
Sawcer, Stephen J.;
van Es, Michael;
Andersen, Peter M.;
Melki, Judith;
Meininger, Vincent;
Hardiman, Orla;
Landers, John E.;
Brown, Robert H.;
Shatunov, Aleksey;
Leigh, Nigel;
Al-Chalabi, Ammar;
Shaw, Christopher E.;
Traynor, Bryan J.;
Chiò, Adriano;
Restagno, Gabriella

Publication type:

Article