PMC Links for Books (Select 1487740) - PMC

Links from Books

Items: 1 to 20 of 27

<< First< Prev

Page of 2

Select item 98363681.

Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

Johnathan Cooper‐Knock, Thomas H. Julian, Emily Feneberg, J. Robin Highley, Maurice Sidra, Martin R. Turner, Kevin Talbot, Olaf Ansorge, Scott P. Allen, Tobias Moll, Tatyana Shelkovnikova, Lydia Castelli, Guillaume M. Hautbergue, Christopher Hewitt, Janine Kirby, Stephen B. Wharton, Richard J. Mead, Pamela J. Shaw

Brain Pathol. 2023 Jan; 33(1): e13104. Published online 2022 Jul 24. doi: 10.1111/bpa.13104

PMCID:: PMC9836368

Abstract Article PDF–1.5M

Select item 93564252.

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

Fanxi Xu, Sen Huang, Xu-Ying Li, Jianing Lin, Xiuli Feng, Shu Xie, Zhanjun Wang, Xian Li, Junge Zhu, Hong Lai, Yanming Xu, Xusheng Huang, Xiaoli Yao, Chaodong Wang

BMC Med Genomics. 2022; 15: 173. Published online 2022 Aug 5. doi: 10.1186/s12920-022-01327-4

PMCID:: PMC9356425

Abstract Article PDF–1.2M

Select item 90484113.

TDP-43 Oligomerization and Phase Separation Properties Are Necessary for Autoregulation

Lydia C. Koehler, Zachary R. Grese, Alliny C. S. Bastos, Lohany D. Mamede, Tomasz Heyduk, Yuna M. Ayala

Front Neurosci. 2022; 16: 818655. Published online 2022 Apr 14. doi: 10.3389/fnins.2022.818655

PMCID:: PMC9048411

Abstract Article PDF–2.7M

Select item 89027614.

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

Juliana Acosta-Uribe, David Aguillón, J. Nicholas Cochran, Margarita Giraldo, Lucía Madrigal, Bradley W. Killingsworth, Rijul Singhal, Sarah Labib, Diana Alzate, Lina Velilla, Sonia Moreno, Gloria P. García, Amanda Saldarriaga, Francisco Piedrahita, Liliana Hincapié, Hugo E. López, Nithesh Perumal, Leonilde Morelo, Dionis Vallejo, Juan Marcos Solano, Eric M. Reiman, Ezequiel I. Surace, Tatiana Itzcovich, Ricardo Allegri, Raquel Sánchez-Valle, Andrés Villegas-Lanau, Charles L. White, III, Diana Matallana, Richard M. Myers, Sharon R. Browning, Francisco Lopera, Kenneth S. Kosik

Genome Med. 2022; 14: 27. Published online 2022 Mar 8. doi: 10.1186/s13073-022-01035-9

PMCID:: PMC8902761

Abstract Article PDF–2.1M

Select item 84450245.

TDP-43 condensation properties specify its RNA-binding and regulatory repertoire

Martina Hallegger, Anob M. Chakrabarti, Flora C.Y. Lee, Bo Lim Lee, Aram G. Amalietti, Hana M. Odeh, Katie E. Copley, Jack D. Rubien, Bede Portz, Klara Kuret, Ina Huppertz, Frédérique Rau, Rickie Patani, Nicolas L. Fawzi, James Shorter, Nicholas M. Luscombe, Jernej Ule

Cell. 2021 Sep 2; 184(18): 4680–4696.e22. doi: 10.1016/j.cell.2021.07.018

PMCID:: PMC8445024

Abstract Article

Select item 80806256.

The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies

Myungjin Jo, Shinrye Lee, Yu-Mi Jeon, Seyeon Kim, Younghwi Kwon, Hyung-Jun Kim

Exp Mol Med. 2020 Oct; 52(10): 1652–1662. Published online 2020 Oct 13. doi: 10.1038/s12276-020-00513-7

PMCID:: PMC8080625

Abstract Article PDF–1.0M

Select item 75403347.

Amyotrophic lateral sclerosis: a clinical review

P. Masrori, P. Van Damme

Eur J Neurol. 2020 Oct; 27(10): 1918–1929. Published online 2020 Jul 7. doi: 10.1111/ene.14393

PMCID:: PMC7540334

Abstract Article PDF–2.5M

Select item 74972898.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 71166509.

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Jemeen Sreedharan, Ian P. Blair, Vineeta B. Tripathi, Xun Hu, Caroline Vance, Boris Rogelj, Steven Ackerley, Jennifer C. Durnall, Kelly L. Williams, Emanuele Buratti, Francisco Baralle, Jacqueline de Belleroche, J. Douglas Mitchell, P. Nigel Leigh, Ammar Al-Chalabi, Christopher C. Miller, Garth Nicholson, Christopher E. Shaw

Science. Author manuscript; available in PMC 2021 Jan 29.

Published in final edited form as: Science. 2008 Mar 21; 319(5870): 1668–72. Published online 2008 Feb 28. doi: 10.1126/science.1154584

PMCID:: PMC7116650

Abstract Article PDF–1.3M

Select item 707179510.

A Successful Pregnancy with Amyotrophic Lateral Sclerosis

P. D. M. Pathiraja, S. K. Ranaraja

Case Rep Obstet Gynecol. 2020; 2020: 1247178. Published online 2020 Feb 29. doi: 10.1155/2020/1247178

PMCID:: PMC7071795

Abstract Article PDF–299K

Select item 699610111.

Executive, language and fluency dysfunction are markers of localised TDP-43 cerebral pathology in non-demented ALS

Jenna M Gregory, Karina McDade, Thomas H Bak, Suvankar Pal, Siddharthan Chandran, Colin Smith, Sharon Abrahams

J Neurol Neurosurg Psychiatry. 2020 Feb; 91(2): 149–157. Published online 2019 Sep 12. doi: 10.1136/jnnp-2019-320807

PMCID:: PMC6996101

Abstract Article PDF–474K

Select item 688568612.

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

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

Brain. 2019 Dec; 142(12): 3753–3770. Published online 2019 Oct 11. doi: 10.1093/brain/awz313

PMCID:: PMC6885686

Abstract Article PDF–2.2M

Select item 687518213.

Dysregulation of TDP‐43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

Kathy Newell, Francesca Paron, Miguel Mompean, Jill Murrell, Elisa Salis, Cristiana Stuani, Gary Pattee, Maurizio Romano, Douglas Laurents, Bernardino Ghetti, Emanuele Buratti

Brain Pathol. 2019 May; 29(3): 397–413. Published online 2018 Dec 27. doi: 10.1111/bpa.12680

PMCID:: PMC6875182

Abstract Article PDF–1.0M

Select item 618693214.

Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum

Mikel Vicente‐Pascual, Marcello Rossi, Josep Gámez, Albert Lladó, Josep Valls, Oriol Grau‐Rivera, Rainiero Ávila Polo, Franc Llorens, Inga Zerr, Isidre Ferrer, Carlos Nos, Piero Parchi, Raquel Sánchez‐Valle, Ellen Gelpí

Ann Clin Transl Neurol. 2018 Oct; 5(10): 1297–1302. Published online 2018 Sep 21. doi: 10.1002/acn3.632

PMCID:: PMC6186932

Abstract Article PDF–523K

Select item 544525815.

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

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

Brain. 2017 Jun; 140(6): 1611–1618. Published online 2017 Apr 18. doi: 10.1093/brain/awx082

PMCID:: PMC5445258

Abstract Article PDF–362K

Select item 473192516.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475317.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 416073118.

Parkinsonian Syndrome in Familial Frontotemporal Dementia

Joanna Siuda, Shinsuke Fujioka, Zbigniew K. Wszolek

Parkinsonism Relat Disord. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Parkinsonism Relat Disord. 2014 Sep; 20(9): 957–964. Published online 2014 Jun 13. doi: 10.1016/j.parkreldis.2014.06.004

PMCID:: PMC4160731

Abstract Article PDF–138K

Select item 412116419.

The Influence of Pathological Mutations and Proline Substitutions in TDP-43 Glycine-Rich Peptides on Its Amyloid Properties and Cellular Toxicity

Chia-Sui Sun, Cindy Yu-Hsiang Wang, Bryan Po-Wen Chen, Ruei-Yu He, Gerard Chun-Hao Liu, Chih-Hsien Wang, Wenlung Chen, Yijuang Chern, Joseph Jen-Tse Huang

PLoS One. 2014; 9(8): e103644. Published online 2014 Aug 4. doi: 10.1371/journal.pone.0103644

PMCID:: PMC4121164

Abstract Article PDF–1.2M

Select item 367401020.

Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics

Olubunmi Abel, John F. Powell, Peter M. Andersen, Ammar Al-Chalabi

PLoS One. 2013; 8(6): e64899. Published online 2013 Jun 5. doi: 10.1371/journal.pone.0064899

PMCID:: PMC3674010

Abstract Article PDF–685K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 1 to 20 of 27

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity