Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Skibinski, Gaia, Parkinson, Nicholas J, Brown, Jeremy M, Chakrabarti, Lisa, Lloyd, Sarah L, Hummerich, Holger, Nielsen, Jørgen E, Hodges, John R +11 more·2005·Nature Genetics

Cited by (818)

Items 501–600 of 818

  1. The complex relationship between genotype, pathology and phenotype in familial dementia
    John B. Kwok, Clement T. Loy, Carol Dobson‐Stone, Glenda Margaret Halliday · 2020 · Neurobiology of Disease
  2. ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons
    Jin‐A Lee, Lei Liu, Robyn Javier, Anatol C. Kreitzer, Céline Delaloy, Fen‐Biao Gao · 2011 · Molecular Brain
  3. Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders
    Roberta Zanardini, Miriam Ciani, Luisa Benussi, Roberta Ghidoni · 2016 · Frontiers in Aging Neuroscience
  4. Clinical and biological phenotypes of frontotemporal dementia: Perspectives for disease modifying therapies
    Stefano Gazzina, Marta Antonia Manes, Alessandro Padovani, Barbara Borroni · 2017 · European Journal of Pharmacology
  5. GISP increases neurotransmitter receptor stability by down-regulating ESCRT-mediated lysosomal degradation
    Sriharsha Kantamneni, David Holman, Kevin A. Wilkinson, Atsushi Nishimune, Jeremy Martin Henley · 2009 · Neuroscience Letters
  6. The Genetics of Frontotemporal Dementia
    Kristoffer Haugarvoll, Zbigniew K. Wszołek, Michael L. Hutton · 2007 · Neurologic Clinics
  7. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations
    Mark S. Forman, Ian R. Mackenzie, Nigel J. Cairns, Philip J. Boyer, William R. Markesbery, Manuela Neumann · 2007 · Journal of Neuropathology & Experimental Neurology
  8. Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review
    Lamei Yuan, Yuewen Yang, Yi Guo, Hao Deng · 2025 · Journal of genetics and genomics/Journal of Genetics and Genomics
  9. Recent Insights into the Involvement of Progranulin in Frontotemporal Dementia
    Li Sun, Jason L. Eriksen · 2011 · Current Neuropharmacology
  10. From frontotemporal lobar degeneration pathology to frontotemporal lobar degeneration biomarkers
    Chadwick M. Hales, William T. Hu · 2013 · International Review of Psychiatry
  11. Rab-dependent cellular trafficking and amyotrophic lateral sclerosis
    Sonam Parakh, Emma R. Perri, Cyril Jones Jagaraj, Audrey Ragagnin, Julie D. Atkin · 2018 · Critical Reviews in Biochemistry and Molecular Biology
  12. Frontotemporal Lobar Degeneration
    Daniela Galimberti, Elio Angelo Scarpini · 2014 · Elsevier eBooks
  13. Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI
    Line Lunau, Kim Mouridsen, Anders Bertil Rodell, Leif Østergaard, Jørgen Erik Nielsen, Adrian M. Isaacs, Peter Johannsen · 2012 · BMJ Open
  14. Review: Modelling the pathology and behaviour of frontotemporal dementia
    Daniel A. Solomon, Jacqueline C. Mitchell, Marie-Therese Salcher-Konrad, Caroline A. Vance, Sarah Mizielinska · 2018 · Neuropathology and Applied Neurobiology
  15. Axonal transport of Hrs is activity dependent and facilitates synaptic vesicle protein degradation
    Veronica Birdsall, Konner Kirwan, Mei J. Zhu, Yuuta Imoto, Scott M. Wilson, Shigeki Watanabe, Clarissa L. Waites · 2022 · Life Science Alliance
  16. TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis
    Arianna Manini, Antonia Ratti, Alberto Brusati, Alessio Maranzano, Isabella Fogh, Silvia Peverelli, Stefano Messina, Davide Gentilini, Federico Verde, Barbara Poletti et al. · 2022 · International Journal of Molecular Sciences
  17. Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment
    Luke W. Bonham, Ethan G. Geier, Daniel W. Sirkis, Josiah K. Leong, Eliana Marisa Ramos, Qing Wang, Anna Karydas, Suzee E. Lee, Virginia E. Sturm, Russell P. Sawyer et al. · 2022 · Journal of Neuroscience
  18. Astrocyte dysfunction and neuronal network hyperactivity in a CRISPR engineered pluripotent stem cell model of frontotemporal dementia
    Isaac Canals, Andrea Comella-Bolla, Efraín Cepeda-Prado, Natalia Avaliani, James A Crowe, Leal Oburoglu, Andreas Bruzelius, Naomi King, Marı́a A. Pajares, Dolores Pérez‐Sala et al. · 2023 · Brain Communications
  19. Krüppel-like transcription factor 8 (Klf8) is expressed and active in the neurons of the mouse brain
    Marina Dobrivojević, Nikola Habek, Katarina Kapuralin, Marija Ćurlin, Srečko Gajović · 2015 · Gene
  20. Endocytic regulation of alkali metal transport proteins in mammals, yeast and plants
    José Miguel Mulet, Vicent Llopis-Torregrosa, Cecilia Primo, Maria Carmen Marqués, Lynne Yenush · 2013 · Current Genetics
  21. Pick Complex—Historical Introduction
    Andrew Kertesz · 2007 · Alzheimer Disease & Associated Disorders
  22. Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B
    Parastoo Momeni, Jason Bell, Jaime Duckworth, Mike Hutton, David M. A. Mann, Stuart M. Pickering-Brown, John Hardy · 2006 · Neuroscience Letters
  23. The role of endolysosomal progranulin and TMEM106B in neurodegenerative diseases
    Hideyuki Takahashi, Stephen M. Strittmatter · 2025 · Molecular Neurodegeneration
  24. C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort
    Yi Jayne Tan, Alisa Cui Wen Yong, Jia Nee Foo, Michelle Mulan Lian, Weng Khong Lim, Jacqueline C. Dominguez, Zhi Hui Fong, Kaavya Narasimhalu, Hui Jin Chiew, Kok Pin Ng et al. · 2023 · Annals of Clinical and Translational Neurology
  25. Neuropathology of Hereditary Forms of Frontotemporal Dementia and Parkinsonism
    David G. Muñoz, Isidró Ferrer · 2008 · Handbook of clinical neurology
  26. The genetic basis of amyotrophic lateral sclerosis: recent breakthroughs
    Wim Robberecht, Caroline Eykens · 2015 · Advances in Genomics and Genetics
  27. Review: Recent progress in frontotemporal lobar degeneration
    Stuart M. Pickering-Brown · 2009 · Neuropathology and Applied Neurobiology
  28. Expression of mutant CHMP2B, an ESCRT‐III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila
    Abigael Cheruiyot, Jin‐A Lee, Fen‐Biao Gao, Syed Tariq Ahmad · 2013 · The FASEB Journal
  29. CSF neurofilament light concentration is increased in presymptomatic CHMP2B mutation carriers
    Nina Rostgaard, Peter Roos, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Anja Hviid Simonsen, Jørgen Erik Nielsen · 2017 · Neurology
  30. Diseases of movement and system degenerations
    Paul G. Ince, Brent Clark, Janice L. Holton, Tamás Révész, Stephen B. Wharton · 2008 · CRC Press eBooks
  31. Association Study of Prostate Cancer Susceptibility Variants with Risks of Invasive Ovarian, Breast, and Colorectal Cancer
    Honglin Song, Thibaud Koessler, Shahana Ahmed, Susan J. Ramus, Susanne K. Kjær, Richard A. DiCioccio, Eva Wozniak, Estrid Vilma Solyom Høgdall, Alice S. Whittemore, Valerie M. McGuire et al. · 2008 · Cancer Research
  32. Cellular Assays for Drug Discovery in Genetic Disorders of Intracellular Trafficking
    Maria Antonietta De Matteis, Mariella Vicinanza, Rossella Venditti, Cathal Wilson · 2013 · Annual Review of Genomics and Human Genetics
  33. Charting Frontotemporal Dementia: From Genes to Networks
    Massimo Filippi, Federica Agosta, Pilar M. Ferraro · 2015 · Journal of Neuroimaging
  34. The Interplay Between Autophagy and RNA Homeostasis: Implications for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
    O. H. Houghton, Sarah Mizielinska, Patricia Gómez‐Suaga · 2022 · Frontiers in Cell and Developmental Biology
  35. Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations
    Skylar E. Davis, Anna K. Cook, Justin A. Hall, Yuliya Voskobiynyk, Nancy V. N. Carullo, Nicholas R. Boyle, Ahmad R. Hakim, Kristian M. Anderson, Kierra P. Hobdy, Derian A. Pugh et al. · 2023 · Acta Neuropathologica Communications
  36. The Underestimated Role of Iron in Frontotemporal Dementia: A Narrative Review
    Sara Ferretti, Isabella Zanella · 2024 · International Journal of Molecular Sciences
  37. Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells
    Alexia Bodin, Logan Greibill, Julien Gouju, Franck Letournel, Silvia Pozzi, Jean‐Pierre Julien, Laurence Renaud, Delphine Bohl, Stéphanie Millecamps, Christophe Verny et al. · 2023 · Brain
  38. Multifaceted role of SMCR8 as autophagy regulator
    Jennifer Jung, Christian Behrends · 2017 · Small GTPases
  39. A comparative bioinformatic analysis of C9orf72
    Shalini Iyer, K. Ravi Acharya, Vasanta Subramanian · 2018 · PeerJ
  40. A novel synaptopathy‐defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia
    Emma L. Clayton, Katherine Bonnycastle, Adrian M. Isaacs, Michael Alan Cousin, Stéphanie Schorge · 2021 · Journal of Neurochemistry
  41. Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3—A novel syndrome
    Galia Gat‐Yablonski, Rachel Frumkin‐Ben David, Meytal Bar, O. Potievsky, Moshe Phillip, Liora Lazar · 2011 · American Journal of Medical Genetics Part A
  42. Endosomal sorting complexes required for ESCRTing cells toward death during neurogenesis, neurodevelopment and neurodegeneration
    Zenia Kaul, Oishee Chakrabarti · 2018 · Traffic
  43. Astrocytes mobilize a broader repertoire of lysosomal repair mechanisms than neurons
    Erin Murphy Smith, Natalí L. Chanaday, Sandra Maday · 2026 · iScience
  44. CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS
    Olivia Keeley, Emma Mendoza, Druv Menon, Alyssa N. Coyne · 2024 · Acta Neuropathologica Communications
  45. Organelle homeostasis requires ESCRTs
    Tsan‐Wen Lu, Adam S. Frost, Frank R. Moss · 2025 · Current Opinion in Cell Biology
  46. Entering the era of precision medicine to treat amyotrophic lateral sclerosis
    Frances Theunissen, Loren L. Flynn, Alfredo Iacoangeli, Ahmad Al Khleifat, Ammar Al‐Chalabi, James J. Giordano, Masha Strømme, Patrick Anthony Akkari · 2025 · Molecular Neurodegeneration
  47. Genetic architecture of neurodegenerative dementias
    Jordi Clarimón, Sonia Moreno–Grau, Laura Cervera‐Carles, Oriol Dols‐Icardo, Pascual Sánchez‐Juan, Agustı́n Ruiz · 2020 · Neuropharmacology
  48. Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations
    Victor A. Voicu, Călin Petru Tătaru, Corneliu Toader, Răzvan-Adrian Covache-Busuioc, Luca-Andrei Glavan, Bogdan-Gabriel Bratu, Horia Petre Costin, Antonio-Daniel Corlatescu, Alexandru Vlad Ciurea · 2023 · International Journal of Molecular Sciences
  49. Molecular Genetics of Frontotemporal Dementia Elucidated by Drosophila Models—Defects in Endosomal–Lysosomal Pathway
    Sarah E. Vandal, Xiaoyue Mike Zheng, Syed Tariq Ahmad · 2018 · International Journal of Molecular Sciences
  50. In vitro methods in autophagy research: Applications in neurodegenerative diseases and mood disorders
    Dalinda Isabel Sánchez-Vidaña, Jingjing Li, Samuel Abokyi, Jackie Ngai-Man Chan, Shirley P.C. Ngai, Benson Wui-Man Lau · 2023 · Frontiers in Molecular Neuroscience
  51. Frontotemporal lobar degeneration: clinical and pathologic overview
    Gil Dan Rabinovici, Katya Rascovsky, Bruce L. Miller · 2008 · Handbook of clinical neurology
  52. Animal Models for the Study of Human Neurodegenerative Diseases
    Gabriela Delevati Colpo, Fabiola Mara Ribeiro, Natália Pessoa Rocha, Antônio Lúcio Teixeira · 2017 · Elsevier eBooks
  53. p97/VCP Promotes the Recycling of Endocytic Cargo
    Mona Kawan, Maria Körner, Andreas Schlösser, Alexander Buchberger · 2023 · Molecular Biology of the Cell
  54. Autophagy Dysfunction and Neurodegeneration: Where Does It Go Wrong?
    Daphne Oettinger, Ai Yamamoto · 2025 · Journal of Molecular Biology
  55. Review: Induced pluripotent stem cell models of frontotemporal dementia
    Elisavet Preza, John Hardy, Thomas T. Warner, Selina Wray · 2016 · Neuropathology and Applied Neurobiology
  56. Multidimensional Analysis of CHMP Family Members in Hepatocellular Carcinoma
    Yu Guo, An Shang, Shuang Wang, Min Wang · 2022 · International Journal of General Medicine
  57. Dementia
    Ramesh Sahathevan · 2014 · Elsevier eBooks
  58. Novel Progranulin Mutation Detected in 2 Patients With FTLD
    Lena Skoglund, Toshifumi Matsui, Stefanie H. Freeman, Anders Wallin, Elin S. Blom, Matthew P. Frosch, John H. Growdon, Bradley T. Hyman, Lars Lannfelt, Martin Ingelsson et al. · 2010 · Alzheimer Disease & Associated Disorders
  59. MicroRNA-124 modulates social behavior in frontotemporal dementia
    Andrew E. Arrant, Erik D. Roberson · 2014 · Nature Medicine
  60. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration
    Tibor Hortobágyi, Nigel J. Cairns · 2014 · Cambridge University Press eBooks
  61. Генетическое разнообразие лобно-височной деменции
    Ю. А. Шпилюкова, E. Yu. Fedotova, Sergey Nikolaevich Illarioshkin · 2020 · Molecular Biology
  62. Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation
    Anders Dyhr Toft, Peter Roos, Olli Jääskeläinen, Christian Sandøe Musaeus, Emil Elbæk Henriksen, Peter Johannsen, Troels T. Nielsen, Sanna‐Kaisa Herukka, Anja Hviid Simonsen, Jørgen Erik Nielsen · 2020 · Dementia and Geriatric Cognitive Disorders
  63. Developmental anatomy of the primary olfactory pathway in the opossum Monodelphis domestica.
    M.I. Chuah, R Tennent, R Teague · 1997 · PubMed
  64. The genetics of frontotemporal lobar degeneration
    Stephen K. Sikkink, Sara J. Rollinson, Stuart M. Pickering-Brown · 2007 · Current Opinion in Neurology
  65. Fine-mapping and candidate gene analysis of bovine spinal muscular atrophy
    Stefan Krebs, Ivica Međugorac, Ingolf Ruß, P. Ossent, U. Bleul, W. Schmahl, M. Förster · 2006 · Mammalian Genome
  66. Frontal temporal dementia: dissecting the aetiology and pathogenesis
    John Hardy, Parastoo Momeni, Bryan J. Traynor · 2006 · Brain
  67. CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis
    Ian P. Blair, Caroline A. Vance, Jennifer C. Durnall, Kelly L. Williams, Annora Thoeng, Christopher E. Shaw, Garth A. Nicholson · 2008 · Journal of Neurology Neurosurgery & Psychiatry
  68. Molecular Genetics of Frontotemporal Dementia
    Raffaele Ferrari, Avinash Thumma, Parastoo Momeni · 2013 · Wiley eBooks
  69. Contemporary Approaches to Alzheimer’s Disease and Frontotemporal Dementia
    Erik D. Roberson · 2010 · Methods in molecular biology
  70. Genetics of Amyotrophic Lateral Sclerosis
    Max Koppers, Michael A. van Es, Leonard H. van den Berg, Jan Herman Veldink, R. Jeroen Pasterkamp · 2012 · InTech eBooks
  71. Loss of tumor susceptibility gene 101 (TSG101) perturbs endoplasmic reticulum structure and function
    Zenia Kaul, Debdatto Mookherjee, Subhrangshu Das, Debmita Chatterjee, Saikat Chakrabarti, Oishee Chakrabarti · 2020 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  72. Autophagy and Motor Neuron Diseases
    Xiaojie Zhang, Kang Yang, Weidong Le · 2020 · Advances in experimental medicine and biology
  73. Frontotemporal dementia, chromosome 17, and progranulin
    Lewis P. Rowland · 2006 · Annals of Neurology
  74. Beyond Support Cells: Astrocytic Autophagy as a Central Regulator of CNS Homeostasis and Neurodegenerative Diseases
    Jung Ho Lee, Won Seok Chang, Sun Seek Min, Dae‐Yong Song, Hong‐Il Yoo · 2025 · Cells
  75. Adding Some “Splice” to Stress Eating: Autophagy, ESCRT and Alternative Splicing Orchestrate the Cellular Stress Response
    Elias B. Habib, Allyson Cook, Sabateeshan Mathavarajah, Graham Dellaire · 2021 · Genes
  76. Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies
    Yvonne S. Davidson, Andrew Robinson, Sara J. Rollinson, Stuart M. Pickering-Brown, Shangxi Xiao, Janice Robertson, David M. A. Mann · 2017 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
  77. Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration
    Salvatore Gallone, Maria Teresa Giordana, Elio Angelo Scarpini, Innocenzo Rainero, Elisa Rubino, Pierpaola Fenoglio, Daniela Galimberti, Silvia Grifoni, Eliana Venturelli, Pier Luigi Acutis et al. · 2009 · Dementia and Geriatric Cognitive Disorders
  78. Challenges and new opportunities in the investigation of new drug therapies to treat frontotemporal dementia
    Edward D. Huey, Nicole M. Armstrong, Parastoo Momeni, Jordan Henry Grafman · 2008 · Expert Opinion on Therapeutic Targets
  79. Genetics of dementia in a Finnish cohort
    Petra Pasanen, Liisa Myllykangas, Minna Pöyhönen, Anna Kiviharju, Maija Siitonen, John Hardy, José Brás, Anders E. Paetau, Pentti J. Tienari, Rita João Guerreiro et al. · 2018 · European Journal of Human Genetics
  80. Retrovirus reactivation in CHMP2BIntron5 models of frontotemporal dementia
    Laura Fort‐Aznar, Chris Ugbode, Sean T. Sweeney · 2020 · Human Molecular Genetics
  81. Six generations of CHMP2B ‐mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival
    Peter Roos, Peter Johannsen, Suzanne G. Lindquist, Jeremy M. Brown, Gunhild Waldemar, Morten Duno, Troels T. Nielsen, Esben Budtz–Jørgensen, Susanne Gydesen, Ida E. Holm et al. · 2022 · Acta Neurologica Scandinavica
  82. Behavioral Genetics of Neurodegenerative Disorders
    Daniela Galimberti, Elio Angelo Scarpini · 2011 · Current topics in behavioral neurosciences
  83. Association of TMEM106B rs1990622 Marker and Frontotemporal Dementia: Evidence for a Recessive Effect and Meta-Analysis
    Isabel Hernández, Maitée Rosende‐Roca, Montserrat Alegret, Ana Mauleón, Ana Espinosa, Liliana Vargas, Óscar Sotolongo‐Grau, Lluís Tárraga, Merçé Boada, Agustı́n Ruiz · 2014 · Journal of Alzheimer s Disease
  84. TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency
    Wren O. Nader, Kaylan S. Brown, Nicholas R. Boyle, Azariah K. Kaplelach, Shaimaa M. Abdelaziz, Skylar E. Davis, Qays Aljabi, Ahmad R. Hakim, Amelia G. Davidson, Giacynta A. Vollmer et al. · 2025 · Scientific Reports
  85. Oocytes, embryos and pluripotent stem cells from a biomedical perspective
    P. Hyttel, Laís Vicari de Figueirêdo Pessôa, Jan Bojsen‐Møller Secher, Katarina Stoklund Dittlau, Kristine Freude, Vanessa Jane Hall, Trudee Fair, R. J. Assey, Jozef Laurinčík, Henrik Callesen et al. · 2019 · Animal Reproduction
  86. Systems biology approaches to unravel the molecular and genetic architecture of Alzheimer's disease and related tauopathies
    Miyoshi, Emily, Morabito, Samuel, Swarup, Vivek · 2021 · Neurobiology of Disease
  87. Alteration of microglial metabolism and inflammatory profile contributes to neurotoxicity in a hiPSC-derived microglia model of frontotemporal dementia 3
    Henriette Haukedal, Signe Syshøj Lorenzen, Emil Winther Westi, Giulia Ilaria Corsi, Veerendra P. Gadekar, Amanda McQuade, Hayk Davtyan, Nadezhda T. Doncheva, Benjamin Schmid, Abinaya Chandrasekaran et al. · 2023 · Brain Behavior and Immunity
  88. Epidemiological aspects of frontotemporal dementia
    John Cornelis Van Swieten, Sonia M. Rosso · 2008 · Handbook of clinical neurology
  89. Deciphering genetic susceptibility to frontotemporal lobar dementia
    Jean‐Charles Lambert, Philippe Amouyel · 2010 · Nature Genetics
  90. Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B
    Yu Zhang, Benjamin Schmid, Troels T. Nielsen, Jørgen Erik Nielsen, Christian Clausen, Poul Hyttel, Bjørn Holst, Kristine Freude · 2016 · Stem Cell Research
  91. One novel GRN null mutation, two different aphasia phenotypes
    Cinzia Coppola, Mariano Oliva, Dario Saracino, Sabina Pappatà, Emilia Zampella, Sara Cimini, Martina Ricci, Giorgio Giaccone, Giuseppe Di Iorio, Giacomina Rossi · 2019 · Neurobiology of Aging
  92. Cortical Frontoparietal Network Dysfunction in CHMP2B-Frontotemporal Dementia
    Christian Sandøe Musaeus, Jette Stokholm Pedersen, Troels W. Kjær, Peter Johannsen, Gunhild Waldemar, Maria Joy Normann Haverberg, Theis Bacher, Jørgen Erik Nielsen, Peter Roos · 2021 · Frontiers in Aging Neuroscience
  93. Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2Bintron5 Mutant in a Mouse Model of ALS-FTD Syndrome
    Robin Waegaert, Sylvie Dirrig‐Grosch, Haoyi Liu, Marion Boutry, Ping Luan, Jean‐Philippe Loeffler, Frédérique René · 2022 · Biomolecules
  94. Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease
    Ian R. Mackenzie, Stefanie L. Butland, Rebecca S. Devon, Emily Dwosh, Howard Feldman, Caroline Lindholm, Scott J. Neal, B. F. Francis Ouellette, Blair R. Leavitt · 2006 · BMC Neurology
  95. Anterior Horn Cell and Cranial Motor Neuron Disease
    Ching H. Wang, Anne M. Connolly · 2012 · Elsevier eBooks
  96. Frontotemporal dementia
    Bernardino Francesco Ghetti, Hans Hilmar Goebel · 2006 · Neurology
  97. Molecular genetics of early-onset Alzheimer's disease and frontotemporal lobar degeneration
    Johanna Krüger · 2010
  98. Exploring Intrinsic Disorder in Human Synucleins and Associated Proteins
    Sriya Reddy Venati, Vladimir Nikolaevich Uversky · 2024 · International Journal of Molecular Sciences
  99. Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis
    M S Shrilaxmi, Saradindu Banerjee, Santosh R. D’Mello, Somasish Ghosh Dastidar · 2025 · Molecular Neurobiology
  100. Aerobic Exercise Attenuates Autophagy‐Lysosomal Flux Deficits via β2‐AR‐Mediated ESCRT‐III Subunit CHMP4B in Mice With Human MAPT P301L
    Shu‐Guang Bi, Haitao Yu, Tian‐Long Gao, Jiajun Wu, Yu‐Ming Mao, Juan Gong, Fang‐Zhou Wang, Liu Yang, Jia Chen, Zi‐Chong Lan et al. · 2025 · Aging Cell