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Select item 87828141.

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees

David Brenner, Kathrin Müller, Serena Lattante, Rüstem Yilmaz, Antje Knehr, Axel Freischmidt, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt

Neurogenetics. 2022; 23(1): 59–65. Published online 2021 Sep 13. doi: 10.1007/s10048-021-00671-4

PMCID:: PMC8782814

Abstract Article PDF–742K

Select item 56539732.

Evidence that C9ORF72 dipeptide repeat proteins associate with U2 snRNP to cause mis-splicing in ALS/FTD patients

Shanye Yin, Rodrigo Lopez-Gonzalez, Ryan C. Kunz, Jaya Gangopadhyay, Carl Borufka, Steven P. Gygi, Fen-Biao Gao, Robin Reed

Cell Rep. Author manuscript; available in PMC 2017 Oct 24.

Published in final edited form as: Cell Rep. 2017 Jun 13; 19(11): 2244–2256. doi: 10.1016/j.celrep.2017.05.056

PMCID:: PMC5653973

Abstract Article PDF–2.2M

Select item 57150103.

De novo design of RNA-binding proteins with a prion-like domain related to ALS/FTD proteinopathies

Kana Mitsuhashi, Daisuke Ito, Kyoko Mashima, Munenori Oyama, Shinichi Takahashi, Norihiro Suzuki

Sci Rep. 2017; 7: 16871. Published online 2017 Dec 4. doi: 10.1038/s41598-017-17209-0

Correction in:: Sci Rep. 2020; 10: 8746.

PMCID:: PMC5715010

Abstract Article PDF–2.8M

Select item 89612724.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. Renton, Edoardo Errichiello, Magdalena Zoledziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiòg

Neurobiol Aging. Author manuscript; available in PMC 2022 Mar 29.

Published in final edited form as: Neurobiol Aging. 2016 Jul; 43: 180.e1–180.e5. Published online 2016 Apr 9. doi: 10.1016/j.neurobiolaging.2016.03.028

PMCID:: PMC8961272

Abstract Article PDF–486K

Select item 57199005.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M. Nicholson, Matt Baker, Ging-Yuek R. Hsiung, Charles Krieger, Pheth Sengdy, Kevin B. Boylan, Dennis W. Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A. Zivkovic, David Lacomis, J. Paul Taylor, Rosa Rademakers, Ian R. A. Mackenzie

Acta Neuropathol Commun. 2017; 5: 96. Published online 2017 Dec 7. doi: 10.1186/s40478-017-0493-x

PMCID:: PMC5719900

Abstract Article PDF–1.6M

Select item 89459836.

Thalamic and Cerebellar Regional Involvement across the ALS–FTD Spectrum and the Effect of C9orf72

Martina Bocchetta, Emily G. Todd, Nga Yan Tse, Emma M. Devenney, Sicong Tu, Jashelle Caga, John R. Hodges, Glenda M. Halliday, Muireann Irish, Olivier Piguet, Matthew C. Kiernan, Jonathan D. Rohrer, Rebekah M. Ahmed

Brain Sci. 2022 Mar; 12(3): 336. Published online 2022 Mar 1. doi: 10.3390/brainsci12030336

PMCID:: PMC8945983

Abstract Article PDF–1.2M

Select item 89321217.

The role of inflammation in neurodegeneration: novel insights into the role of the immune system in C9orf72 HRE-mediated ALS/FTD

Pegah Masrori, Jimmy Beckers, Helena Gossye, Philip Van Damme

Mol Neurodegener. 2022; 17: 22. Published online 2022 Mar 18. doi: 10.1186/s13024-022-00525-z

PMCID:: PMC8932121

Abstract Article PDF–3.1M

Select item 57334898.

Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells

Wenting Guo, Laura Fumagalli, Robert Prior, Ludo Van Den Bosch

Front Neurosci. 2017; 11: 671. Published online 2017 Dec 13. doi: 10.3389/fnins.2017.00671

PMCID:: PMC5733489

Abstract Article PDF–984K

Select item 88627349.

Regional prefrontal cortical atrophy predicts specific cognitive-behavioral symptoms in ALS-FTD

Elena Ratti, Kimiko Domoto-Reilly, Christina Caso, Alyssa Murphy, Michael Brickhouse, Daisy Hochberg, Nikos Makris, Merit E. Cudkowicz, Bradford C. Dickerson

Brain Imaging Behav. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Brain Imaging Behav. 2021 Oct; 15(5): 2540–2551. Published online 2021 Feb 15. doi: 10.1007/s11682-021-00456-1

PMCID:: PMC8862734

Abstract Article PDF–1.1M

Select item 884254410.

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

Weilun Pang, Fenghua Hu

J Neurochem. Author manuscript; available in PMC 2022 Feb 14.

Published in final edited form as: J Neurochem. 2021 May; 157(3): 334–350. Published online 2020 Dec 18. doi: 10.1111/jnc.15255

PMCID:: PMC8842544

Abstract Article PDF–1.2M

Select item 576085111.

Targeting RNA G‐quadruplexes as new treatment strategy for C9orf72 ALS/FTD

Martin H Schludi, Dieter Edbauer

EMBO Mol Med. 2018 Jan; 10(1): 4–6. Published online 2017 Nov 24. doi: 10.15252/emmm.201708572

PMCID:: PMC5760851

Abstract Article PDF–278K

Select item 553754812.

Examining the language and behavioural profile in FTD and ALS-FTD

Jennifer A Saxon, Jennifer C Thompson, Matthew Jones, Jennifer M Harris, Anna MT Richardson, Tobias Langheinrich, David Neary, David MA Mann, Julie S Snowden

J Neurol Neurosurg Psychiatry. 2017 Aug; 88(8): 675–680. Published online 2017 Jun 8. doi: 10.1136/jnnp-2017-315667

PMCID:: PMC5537548

Abstract Article PDF–279K

Select item 877965213.

Genome-Encoded Cytoplasmic Double-Stranded RNAs, Found in C9ORF72 ALS-FTD Brain, Propagate Neuronal Loss

Steven Rodriguez, Asli Sahin, Benjamin R. Schrank, Hawra Al-Lawati, Isabel Costantino, Eric Benz, Darian Fard, Alefiya D. Albers, Luxiang Cao, Alexis C. Gomez, Kyle Evans, Elena Ratti, Merit Cudkowicz, Matthew P. Frosch, Michael Talkowski, Peter K. Sorger, Bradley T. Hyman, Mark W. Albers

Sci Transl Med. Author manuscript; available in PMC 2022 Jan 21.

Published in final edited form as: Sci Transl Med. 2021 Jul 7; 13(601): eaaz4699. doi: 10.1126/scitranslmed.aaz4699

PMCID:: PMC8779652

Abstract Article PDF–1.8M

Select item 877516314.

Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry

Maysen Mesaros, Steven Lenz, Woobeen Lim, Jordan Brown, Luke Drury, Jennifer Roggenbuck

Genes (Basel) 2022 Jan; 13(1): 76. Published online 2021 Dec 28. doi: 10.3390/genes13010076

PMCID:: PMC8775163

Abstract Article PDF–983K

Select item 876178115.

UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD

Brian C. Lin, Nicole R. Higgins, Trong H. Phung, Mervyn J. Monteiro

FEBS J. Author manuscript; available in PMC 2022 Oct 19.

Published in final edited form as: FEBS J. 2022 Oct; 289(20): 6132–6153. Published online 2021 Jul 28. doi: 10.1111/febs.16129

PMCID:: PMC8761781

Abstract Article PDF–1.2M

Select item 576085816.

A proteomic network approach across the ALS‐FTD disease spectrum resolves clinical phenotypes and genetic vulnerability in human brain

Mfon E Umoh, Eric B Dammer, Jingting Dai, Duc M Duong, James J Lah, Allan I Levey, Marla Gearing, Jonathan D Glass, Nicholas T Seyfried

EMBO Mol Med. 2018 Jan; 10(1): 48–62. Published online 2017 Nov 30. doi: 10.15252/emmm.201708202

PMCID:: PMC5760858

Abstract Article PDF–1.1M

Select item 870078417.

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard

Genes (Basel) 2021 Dec; 12(12): 1876. Published online 2021 Nov 25. doi: 10.3390/genes12121876

PMCID:: PMC8700784

Abstract Article PDF–391K

Select item 867528018.

Pathological phase transitions in ALS-FTD impair dynamic RNA–protein granules

Natalia B. Nedelsky, J. Paul Taylor

RNA. 2022 Jan; 28(1): 97–113. doi: 10.1261/rna.079001.121

PMCID:: PMC8675280

Abstract Article PDF–2.0M

Select item 576499219.

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

Ricardos Tabet, Laure Schaeffer, Fernande Freyermuth, Melanie Jambeau, Michael Workman, Chao-Zong Lee, Chun-Chia Lin, Jie Jiang, Karen Jansen-West, Hussein Abou-Hamdan, Laurent Désaubry, Tania Gendron, Leonard Petrucelli, Franck Martin, Clotilde Lagier-Tourenne

Nat Commun. 2018; 9: 152. Published online 2018 Jan 11. doi: 10.1038/s41467-017-02643-5

PMCID:: PMC5764992

Abstract Article PDF–2.0M

Select item 865642920.

Factors That Influence Non-Motor Impairment Across the ALS-FTD Spectrum: Impact of Phenotype, Sex, Age, Onset and Disease Stage

Emma M. Devenney, Kate McErlean, Nga Yan Tse, Jashelle Caga, Thanuja Dharmadasa, William Huynh, Colin J. Mahoney, Margaret Zoing, Srestha Mazumder, Carol Dobson-Stone, John B. Kwok, Glenda M. Halliday, John R. Hodges, Olivier Piguet, Rebekah M. Ahmed, Matthew C. Kiernan

Front Neurol. 2021; 12: 743688. Published online 2021 Nov 25. doi: 10.3389/fneur.2021.743688

PMCID:: PMC8656429

Abstract Article PDF–1.6M

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