Works matching AU Topp, Simon D.

Results: 11

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

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Published in:

Epilepsia (Series 4), 2020, v. 61, n. 5, p. 995, doi. 10.1111/epi.16508

By:

Tang, Shan;
Addis, Laura;
Smith, Anna;
Topp, Simon D.;
Pendziwiat, Manuela;
Mei, Davide;
Parker, Alasdair;
Agrawal, Shakti;
Hughes, Elaine;
Lascelles, Karine;
Williams, Ruth E.;
Fallon, Penny;
Robinson, Robert;
Cross, Helen J.;
Hedderly, Tammy;
Eltze, Christin;
Kerr, Tim;
Desurkar, Archana;
Hussain, Nahin;
Kinali, Maria

Publication type:

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

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

SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023, v. 24, n. 7/8, p. 736, doi. 10.1080/21678421.2023.2236650

By:

Spargo, Thomas P;
Opie-Martin, Sarah;
Hunt, Guy P;
Kalia, Munishikha;
Al Khleifat, Ahmad;
Topp, Simon D;
Shaw, Christopher E;
Al-Chalabi, Ammar;
Iacoangeli, Alfredo

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

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 7/8, p. 557, doi. 10.3109/21678421.2014.920033

By:

Kent, Louisa;
Vizard, Thomas N.;
Smith, Bradley N.;
Topp, Simon D.;
Vance, Caroline;
Gkazi, Athina;
Miller, Jack;
Shaw, Christopher E.;
Talbot, Kevin

Publication type:

Article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Published in:

Science Translational Medicine, 2017, v. 9, n. 388, p. 1, doi. 10.1126/scitranslmed.aad9157

By:

Smith, Bradley N.;
Topp, Simon D.;
Fallini, Claudia;
Hideki Shibata;
Han-Jou Chen;
Troakes, Claire;
King, Andrew;
Ticozzi, Nicola;
Kenna, Kevin P.;
Soragia-Gkazi, Athina;
Miller, Jack W.;
Akane Sato;
Dias, Diana Marques;
Jeon, Maryangel;
Vance, Caroline;
Chun Hao Wong;
de Majo, Martina;
Kattuah, Wejdan;
Mitchell, Jacqueline C.;
Scotter, Emma L.

Publication type:

Article

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy.

Published in:

2019

By:

Chen, Han-Jou;
Topp, Simon D;
Hui, Ho Sang;
Zacco, Elsa;
Katarya, Malvika;
McLoughlin, Conor;
King, Andrew;
Smith, Bradley N;
Troakes, Claire;
Pastore, Annalisa;
Shaw, Christopher E

Publication type:

journal article

Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation.

Published in:

Diabetes, 2012, v. 61, n. 5, p. 1297, doi. 10.2337/db11-0985

By:

Warren, Liling L.;
Li Li;
Nelson, Matthew R.;
Ehm, Margaret G.;
Shen, Judong;
Fraser, Dana J.;
Aponte, Jennifer L.;
Nangle, Keith L.;
Slater, Andrew J.;
Woollard, Peter M.;
Hall, Matt D.;
Topp, Simon D.;
Xin Yuan;
Cardon, Lon R.;
Chissoe, Stephanie L.;
Mooser, Vincent;
Morris, Andrew D.;
Palmer, Colin N. A.;
Perry, John R.;
Frayling, Timothy M.

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