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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
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Mutations of optineurin in amyotrophic lateral sclerosis.
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
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SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
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Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease.
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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
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Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system.
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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
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14
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
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Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function.
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14
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD.
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Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
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Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi,[...]. EMBO J 2016
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
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13
A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation.
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
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VCP/p97-Mediated Unfolding as a Principle in Protein Homeostasis and Signaling.
Johannes van den Boom, Hemmo Meyer. Mol Cell 2018
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Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
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Edor Kabashi, Paul N Valdmanis, Patrick Dion, Dan Spiegelman, Brendan J McConkey, Christine Vande Velde, Jean-Pierre Bouchard, Lucette Lacomblez, Ksenia Pochigaeva, Francois Salachas,[...]. Nat Genet 2008
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Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Bradley N Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Kevin P Kenna, Emma L Scotter, Jason Kost, Pamela Keagle, Jack W Miller,[...]. Neuron 2014
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Decoding ALS: from genes to mechanism.
J Paul Taylor, Robert H Brown, Don W Cleveland. Nature 2016
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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Peter E A Ash, Kevin F Bieniek, Tania F Gendron, Thomas Caulfield, Wen-Lang Lin, Mariely Dejesus-Hernandez, Marka M van Blitterswijk, Karen Jansen-West, Joseph W Paul, Rosa Rademakers,[...]. Neuron 2013
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VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.
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Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.
Zhang-Yu Zou, Zhi-Rui Zhou, Chun-Hui Che, Chang-Yun Liu, Rao-Li He, Hua-Pin Huang. J Neurol Neurosurg Psychiatry 2017
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A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
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VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Max Koppers, Marka M van Blitterswijk, Lotte Vlam, Paulina A Rowicka, Paul W J van Vught, Ewout J N Groen, Wim G M Spliet, JooYeon Engelen-Lee, Helenius J Schelhaas, Marianne de Visser,[...]. Neurobiol Aging 2012
Max Koppers, Marka M van Blitterswijk, Lotte Vlam, Paulina A Rowicka, Paul W J van Vught, Ewout J N Groen, Wim G M Spliet, JooYeon Engelen-Lee, Helenius J Schelhaas, Marianne de Visser,[...]. Neurobiol Aging 2012
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Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
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ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
Rita Mejzini, Loren L Flynn, Ianthe L Pitout, Sue Fletcher, Steve D Wilton, P Anthony Akkari. Front Neurosci 2019
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11
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.
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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.
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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
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Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases.
Hong Joo Kim, J Paul Taylor. Neuron 2017
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C9orf72 is required for proper macrophage and microglial function in mice.
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C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.
Amanda Atanasio, Vilma Decman, Derek White, Meg Ramos, Burcin Ikiz, Hoi-Ching Lee, Chia-Jen Siao, Susannah Brydges, Elizabeth LaRosa, Yu Bai,[...]. Sci Rep 2016
Amanda Atanasio, Vilma Decman, Derek White, Meg Ramos, Burcin Ikiz, Hoi-Ching Lee, Chia-Jen Siao, Susannah Brydges, Elizabeth LaRosa, Yu Bai,[...]. Sci Rep 2016
10
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.