PMC Articles for MedGen (Select 871241) - PMC

Links from MedGen

Items: 1 to 20 of 37

<< First< Prev

Page of 2

Select item 109882181.

TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43

Juan M. Godoy-Corchuelo, Zeinab Ali, Jose M. Brito Armas, Aurea B. Martins-Bach, Irene García-Toledo, Luis C. Fernández-Beltrán, Juan I. López-Carbonero, Pablo Bascuñana, Shoshana Spring, Irene Jimenez-Coca, Ramón A. Muñoz de Bustillo Alfaro, Maria J. Sánchez-Barrena, Remya R. Nair, Brian J. Nieman, Jason P. Lerch, Karla L. Miller, Hande P. Ozdinler, Elizabeth M.C. Fisher, Thomas J. Cunningham, Abraham Acevedo-Arozena, Silvia Corrochano

Neurobiol Dis. 2024 Apr; 193: 106437. doi: 10.1016/j.nbd.2024.106437

Correction in:: Neurobiol Dis. 2024 Nov; 202: 106708.

PMCID:: PMC10988218

Abstract Article PDF–13M

Select item 109467062.

TDP‐43 pathology and functional deficits in wild‐type and ALS/FTD mutant cyclin F mouse models

Annika van Hummel, Miheer Sabale, Magdalena Przybyla, Julia van der Hoven, Gabriella Chan, Astrid F. Feiten, Roger S. Chung, Lars M. Ittner, Yazi D. Ke

Neuropathol Appl Neurobiol. 2023 Apr; 49(2): e12902. Published online 2023 Apr 10. doi: 10.1111/nan.12902

PMCID:: PMC10946706

Abstract Article PDF–6.7M

Select item 101743703.

NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review

Takayuki Katayama, Kae Takahashi, Osamu Yahara, Jun Sawada, Ken-ichi Ishida, Asuka Asanome, Hisako Endo, Tsukasa Saito, Naoyuki Hasebe, Mari Kishibe, Harumi Kanno, Satoshi Ishiko, Jun Sone

Medicine (Baltimore) 2023 May 12; 102(19): e33789. Published online 2023 May 12. doi: 10.1097/MD.0000000000033789

PMCID:: PMC10174370

Abstract Article PDF–839K

Select item 99594264.

Converging Role for REEP1/SPG31 in Oxidative Stress

Valentina Naef, Maria C. Meschini, Alessandra Tessa, Federica Morani, Debora Corsinovi, Asahi Ogi, Maria Marchese, Michela Ori, Filippo M. Santorelli, Stefano Doccini

Int J Mol Sci. 2023 Feb; 24(4): 3527. Published online 2023 Feb 9. doi: 10.3390/ijms24043527

PMCID:: PMC9959426

Abstract Article PDF–3.5M

Select item 95414945.

A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy

Andrew King, Yuan Kai Lee, Shalmai Jones, Claire Troakes

Neuropathology. 2022 Aug; 42(4): 302–308. Published online 2022 Jun 23. doi: 10.1111/neup.12808

PMCID:: PMC9541494

Abstract Article PDF–672K

Select item 95114766.

囊泡转运在肌萎缩侧索硬化中的作用研究进展

Chaosen YANG, Xiaoming ZHANG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun; 51(3): 380–387. Chinese. doi: 10.3724/zdxbyxb-2022-0024

PMCID:: PMC9511476

Abstract Article PDF–2.9M

Select item 92940947.

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

Emrah Gumusgoz, Sahba Kasiri, Dikran R. Guisso, Jun Wu, Matthew Dear, Brandy Verhalen, Berge A. Minassian

Neurotherapeutics. 2022 Apr; 19(3): 982–993. Published online 2022 Mar 28. doi: 10.1007/s13311-022-01218-7

PMCID:: PMC9294094

Abstract Article PDF–15M

Select item 89619088.

Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia

Dwayne J. Byrne, M. Elena Garcia-Pardo, Nelson B. Cole, Belguun Batnasan, Sophia Heneghan, Anood Sohail, Craig Blackstone, Niamh C. O’Sullivan

Acta Neuropathol Commun. 2022; 10: 40. Published online 2022 Mar 28. doi: 10.1186/s40478-022-01343-6

PMCID:: PMC8961908

Abstract Article PDF–9.6M

Select item 75533529.

Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

Irene Sambri, Filomena Massa, Francesca Gullo, Simone Meneghini, Laura Cassina, Michela Carraro, Giorgia Dina, Angelo Quattrini, Lorenzo Patanella, Annamaria Carissimo, Antonella Iuliano, Filippo Santorelli, Franca Codazzi, Fabio Grohovaz, Paolo Bernardi, Andrea Becchetti, Giorgio Casari

EBioMedicine. 2020 Nov; 61: 103050. Published online 2020 Oct 9. doi: 10.1016/j.ebiom.2020.103050

PMCID:: PMC7553352

Abstract Article PDF–4.8M

Select item 743700110.

Does wild-type Cu/Zn-superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?

Yoshiaki Furukawa, Eiichi Tokuda

Transl Neurodegener. 2020; 9: 33. Published online 2020 Aug 19. doi: 10.1186/s40035-020-00209-y

PMCID:: PMC7437001

Abstract Article PDF–2.0M

Select item 741797011.

Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion

Joke De Vocht, Jeroen Blommaert, Martijn Devrome, Ahmed Radwan, Donatienne Van Weehaeghe, Maxim De Schaepdryver, Jenny Ceccarini, Ahmadreza Rezaei, Georg Schramm, June van Aalst, Adriano Chiò, Marco Pagani, Daphne Stam, Hilde Van Esch, Nikita Lamaire, Marianne Verhaegen, Nathalie Mertens, Koen Poesen, Leonard H. van den Berg, Michael A. van Es, Rik Vandenberghe, Mathieu Vandenbulcke, Jan Van den Stock, Michel Koole, Patrick Dupont, Koen Van Laere, Philip Van Damme

JAMA Neurol. 2020 Aug; 77(8): 1–10. Published online 2020 May 18. doi: 10.1001/jamaneurol.2020.1087

PMCID:: PMC7417970

Abstract Article

Select item 669111212.

Alterations in lipid metabolism of spinal cord linked to amyotrophic lateral sclerosis

Adriano Britto Chaves-Filho, Isabella Fernanda Dantas Pinto, Lucas Souza Dantas, Andre Machado Xavier, Alex Inague, Rodrigo Lucas Faria, Marisa H. G. Medeiros, Isaias Glezer, Marcos Yukio Yoshinaga, Sayuri Miyamoto

Sci Rep. 2019; 9: 11642. Published online 2019 Aug 12. doi: 10.1038/s41598-019-48059-7

PMCID:: PMC6691112

Abstract Article PDF–3.7M

Select item 666565113.

Selective Cortical Layering Abnormalities and Behavioral Deficits in Cortex-Specific Pax6 Knock-Out Mice

Tran Cong Tuoc, Konstantin Radyushkin, Anton B. Tonchev, Maria Carmen Piñon, Ruth Ashery-Padan, Zoltán Molnár, Michail S. Davidoff, Anastassia Stoykova

J Neurosci. 2009 Jul 1; 29(26): 8335–8349. doi: 10.1523/JNEUROSCI.5669-08.2009

PMCID:: PMC6665651

Abstract Article PDF–8.7M

Select item 641876414.

A novel role for the extracellular matrix glycoprotein‐Tenascin‐X in gastric function

Rubina Aktar, Madusha Peiris, Asma Fikree, Simon Eaton, Stamatiki Kritas, Stephen J. Kentish, Eduardo J. A. Araujo, Cristiano Bacarin, Amanda J. Page, Nicol C. Voermans, Qasim Aziz, L. Ashley Blackshaw

J Physiol. 2019 Mar 15; 597(6): 1503–1515. Published online 2019 Jan 23. doi: 10.1113/JP277195

PMCID:: PMC6418764

Abstract Article PDF–2.7M

Select item 638974915.

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy

Shu‐Yan Feng, Liu‐Yi Li, Shu‐Man Feng, Zhang‐Yu Zou

Ann Clin Transl Neurol. 2019 Feb; 6(2): 401–405. Published online 2018 Dec 3. doi: 10.1002/acn3.701

PMCID:: PMC6389749

Abstract Article PDF–409K

Select item 606644416.

Converging cellular themes for the hereditary spastic paraplegias

Craig Blackstone

Curr Opin Neurobiol. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Curr Opin Neurobiol. 2018 Aug; 51: 139–146. Published online 2018 May 10. doi: 10.1016/j.conb.2018.04.025

PMCID:: PMC6066444

Abstract Article PDF–611K

Select item 596863517.

Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease

Daniel Fil, Abigail DeLoach, Shilpi Yadav, Duah Alkam, Melanie MacNicol, Awantika Singh, Cesar M. Compadre, Joseph J. Goellner, Charles A. O’Brien, Tariq Fahmi, Alexei G. Basnakian, Noel Y. Calingasan, Jodi L. Klessner, Flint M. Beal, Owen M. Peters, Jake Metterville, Robert H. Brown, Jr, Karen K.Y. Ling, Frank Rigo, P. Hande Ozdinler, Mahmoud Kiaei

Hum Mol Genet. 2017 Feb 15; 26(4): ddw429. Published online 2016 Dec 28. doi: 10.1093/hmg/ddw429

PMCID:: PMC5968635

Abstract Article PDF–1.8M

Select item 594562318.

ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree

Ceren Tunca, Fulya Akçimen, Cemre Coşkun, Aslı Gündoğdu-Eken, Cemile Kocoglu, Betül Çevik, Can Ebru Bekircan-Kurt, Ersin Tan, A. Nazlı Başak

Eur J Hum Genet. 2018 May; 26(5): 745–748. Published online 2018 Feb 16. doi: 10.1038/s41431-018-0107-5

PMCID:: PMC5945623

Abstract Article PDF–534K

Select item 594023819.

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

Raffaella De Pace, Miguel Skirzewski, Markus Damme, Rafael Mattera, Jeffrey Mercurio, Arianne M. Foster, Loreto Cuitino, Michal Jarnik, Victoria Hoffmann, H. Douglas Morris, Tae-Un Han, Grazia M. S. Mancini, Andrés Buonanno, Juan S. Bonifacino

PLoS Genet. 2018 Apr; 14(4): e1007363. Published online 2018 Apr 26. doi: 10.1371/journal.pgen.1007363

PMCID:: PMC5940238

Abstract Article PDF–18M

Select item 539314620.

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Helen M. Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa

Hum Mol Genet. 2017 Apr 15; 26(8): 1432–1443. Published online 2017 Jan 31. doi: 10.1093/hmg/ddx042

PMCID:: PMC5393146

Abstract Article PDF–910K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 37

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity