Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF 1R mutation

Konno, T., Yoshida, K., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S.‐I., Nishizawa, M. +3 more·2017·European Journal of Neurology
DOI 10.1111/ene.13125

Cited by (184)

Items 101–184 of 184

  1. Case Report: Novel CSF1R Variant in a Patient With Behavioral Variant Frontotemporal Dementia Syndrome With Prodromal Repetitive Scratching Behavior
    Adit Friedberg, Eliana Marisa Ramos, Zhongan Yang, Luke W. Bonham, Jennifer S. Yokoyama, Peter Alexander Ljubenkov, Kyan Younes, Daniel H. Geschwind, Bruce L. Miller · 2022 · Frontiers in Neurology
  2. Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A
    Stefanie N. Hayer, Yvonne Schelling, Philip Höflinger, Stefan Hauser, Ludger J. Schöls · 2018 · Stem Cell Research
  3. Progress in leukodystrophies with zebrafish
    Hung‐Yu Shih, Quentin Raas, Joshua L. Bonkowsky · 2024 · Development Growth & Differentiation
  4. Identification and characterization of a novel intronic splicing mutation in CSF1R ‐related leukoencephalopathy
    Yilai Han, Jinming Han, Zhen Li, Siqi Chen, Ju Liu, Ruxing Zhou, Shufang Zhao, Dawei Li, Zheng Liu, Yinan Zhao et al. · 2024 · CNS Neuroscience & Therapeutics
  5. CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!
    Neeharika Sriram, Hansashree Padmanabha, Sadanandavalli Retnaswami Chandra, Rohan Ramachandra Mahale, Bevinahalli Nanjegowda Nandeesh, Maya D. Bhat, Rita Christopher, Manisha Gupta, Gautham Arunachal Udupi, Pooja Mailankody et al. · 2021 · Annals of Indian Academy of Neurology
  6. A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India
    Ashok Vardhan Reddy Taallapalli, Saraswati Nashi, Sneha Dayanand Kamath, PR Srijithesh, GirishB Kulkarni, Suvarna Alladi · 2022 · Neurology India
  7. Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia
    Sheetal Goyal, K. J. Darshini, Dinesh Sharma, Saraswathi Nashi, Faheem Arshad, Valiyaparambath Purushothaman Vandana, Suvarna Alladi · 2022 · Annals of Indian Academy of Neurology
  8. Heterogeneity of CSF1R ‐ RD : Genes, Environment, or Both?
    Jarosław Dulski, Zbigniew K. Wszołek · 2024 · Movement Disorders
  9. Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia
    Seung Joo Kim, Wanzee Cho, Hee Jin Kim, Duk Lyul Na, Sang Won Seo, Na‐Yeon Jung, Jae‐Hyeok Lee, Myung Jun Lee, Heeyoung Kang, Joon‐Kyung Seong et al. · 2024 · PLoS ONE
  10. Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case
    Panagiotis Stoiloudis, Dimitrios Parissis, Nikoletta Smyrni, Thomai Stardeli, Theodora Afrantou, Eleni Konstantinopoulou, Nikolaos Grigoriadis, Panagiotis Ioannidis · 2021 · Neurological Sciences
  11. A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests
    Eun Hee Sohn, Juyoun Lee, Ae Young Lee, Jin‐Hong Shin · 2021 · Neurocase
  12. Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
    Ettore Salsano, Chiara Benzoni · 2022 · Annals of Clinical and Translational Neurology
  13. Microglia replacement effectively attenuates the disease progress of ALSP in the mouse model and human patient
    Jingying Wu, Yafei Wang, Xiaoyu Li, Yuanyuan Cai, Pei Ouyang, Yang He, Mengyuan Zhang, Xinghua Luan, Yuxiao Jin, Taohui Liu et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  14. Synthesis, characterization and computational study of the conjugated thiol-systems for self-assembled monolayers on gold electrode
    Beya Haouas, Mohamed Oussama Zouaghi, Mohamed Ali Ben Aissa, Belén Batanero, Youssef Arfaoui · 2023 · Journal of Molecular Structure
  15. Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy
    Chenhui Mao, Yuyue Qiu, Tianyi Wang, Yuhan Jiang, Shanshan Chu, Wei Jin, Liling Dong, Jing Gao · 2025 · Journal of Molecular Neuroscience
  16. Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders
    Tomasz Chmiela, Madison Reeves, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Audrey J. Strongosky, Sunil Gandhi, Gilana Pikover, Mathew M. Blurton-Jones, Robert C. Spitale et al. · 2026 · Annals of Clinical and Translational Neurology
  17. CSF1R mutations in an Italian population of early-onset dementia: a case series
    Beatrice Pancaldi, Andrea Mastrangelo, Alessandro Zilioli, Edoardo Ruggeri, Veria Vacchiano, Elena Pasini, Gabriele Busi, Piero Parchi, Marco Spallazzi, Sabina Capellari · 2026 · Journal of Neurology
  18. Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids Mistaken for Stroke: A Case Report
    Sean Hwang, Jangwan Ha, Min Young Choi, Heejeong Jeong, Eun Bin Cho, Tae‐Won Yang, Ki‐Jong Park, Seunguk Jung, Seung Joo Kim · 2022 · Journal of the Korean Neurological Association
  19. A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia presenting with alien hand syndrome
    Bora Chung, Minkyeong Kim, Soo-Kyoung Kim, Heeyoung Kang · 2022 · eNeurologicalSci
  20. Pearls & Oy-sters: CSF1R -Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis
    Aarushi Jain, Vito Arena, Connolly G. Steigerwald, Maria J. Borja, Ilya Kister, Nicolas J. Abreu · 2023 · Neurology
  21. Adult-onset leukodystrophy
    Charles Wade, David S. Lynch · 2024 · Elsevier eBooks
  22. Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry
    Jae Rim Kim, Suin Lee, Sang Won Seo, Ja-Hyun Jang, Yeon Lim Suh, J. Park, Seungyeon Lee, Hyo Jin Son, Hee Jung Kwon, Eun‐Joo Kim et al. · 2025 · Scientific Reports
  23. Looking Glass Syndromes: Two Sides of the Same Gene
    Ryan G. Taylor, Basma M Alyamany, Sachin Kishore Pandey, ANDREW E. KERTESZ, Lee Cyn Ang, Elizabeth C. Finger · 2019 · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
  24. A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) with a high antinuclear antibody titer
    Shitan Zheng, Juanjuan Wang · 2021 · Neurological Sciences
  25. Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds: case report
    Ryo Ishikawa, Ken Wada, Takeshi Ikeuchi · 2022 · Acta Neurologica Belgica
  26. A practical approach to adult-onset white matter diseases, with illustrative cases
    Tasneem F. Hasan, Philip W. Tipton, Kenneth A. Vatz, Suzanne M. Brown, Neeharika Thottempudi, Prasuna Kamireddi, Paldeep Singh Atwal, Zbigniew K. Wszołek, William David Freeman · 2020 · Neurologia i Neurochirurgia Polska
  27. Sporadic Japanese case of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R
    Kensuke Senzaki, Shiroh Miura, Masayuki Ochi, Takeaki Katoh, Yôko Okada, Sayaka Matsumoto, Akira Shiraoka, Hirofumi Ochi, Michiya Igase, Riko Kitazawa et al. · 2020 · Neurology and Clinical Neuroscience
  28. Dissecting microglial contributions to neurodegenerative disease pathophysiology using human pluripotent stem cells
    Dayoung Kim, Takayuki Kondo, Haruhisa Inoue · 2026 · Stem Cell Reports
  29. Pathogenicity analysis and a novel case report of intronic mutations in CSF1R gene
    Xue Shixing, Wei Wang, Hou Xueyan, Tang Wei · 2022 · Neurocase
  30. Altered intrinsic brain activity in patients with CSF1R-related leukoencephalopathy
    Jingying Wu, Yikang Cao, Mengting Li, Binyin Li, Xize Jia, Li Hua Cao · 2022 · Brain Imaging and Behavior
  31. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene
    Cong Ding, Li Zhao, Yu Zhan, Jiahao Li, Rujia Zhong, Qingwei Song, Chunbo Dong · 2022 · Neurological Sciences
  32. A case of hereditary diffuse leukoencephalopathy with spheroids and pigmented glia presenting with long-term mild psychiatric symptoms
    Akira Yokote, Shinji Ouma, Kazunori Takahashi, Fumihiko Hara, Kunihiro Yoshida, Yoshio Tsuboi · 2020 · Rinsho Shinkeigaku
  33. Rare Dementias
    Camilla Ferrari, Benedetta Nacmias, Sandro Sorbi · 2018 · Springer eBooks
  34. Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy
    David S. Lynch, Henry Houlden · 2019 · Journal of Neurology Neurosurgery & Psychiatry
  35. A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant-negative impact on CSF1R signaling
    Jennifer Stables, Emma K. Green, Anuj Sehgal, Omkar L. Patkar, Sahar Keshvari, Isis Taylor, Maisie E. Ashcroft, Kathleen Grabert, Evi Wollscheid-Lengeling, Stefan Szymkowiak et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  36. Progress in neurology 2017–2018
    Anthony H.V. Schapira · 2018 · European Journal of Neurology
  37. Aging of bovine spinal cord: an alteration of myelinated nerve fibers in the white matter
    Susumu Ohfuji · 2019 · Comparative Clinical Pathology
  38. Clinical Reasoning: A 42-year-old woman with progressive cognitive difficulties and gait imbalance
    Michaël C. C. Slama, Matthew Torre, Stephanie Shatzman, Joome Suh, Joel B. Krier, Umberto De Girolami, Dorlan J. Kimbrough, Tracey A. Milligan · 2020 · Neurology
  39. Novel variant of CSF1R in sporadic case with early‐onset cognitive impairment
    Takashi Matsukawa, Hiroshi Shoji, Yasutaka Urasaki, Hiroyuki Ishiura, Jun Mitsui, Shuichi Oguri, Shoji Tsuji, Tatsushi Toda · 2020 · Neurology and Clinical Neuroscience
  40. Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
    Yi‐Chung Lee, Yi‐Chu Liao · 2022 · Annals of Clinical and Translational Neurology
  41. Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient WithSPASTp.Pro26Thr Variant
    Faheem Arshad, Suvarna Alladi, Karthik Kulanthaivelu · 2022 · Dementia and Neurocognitive Disorders
  42. Reply to: “The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult‐Onset Leukoencephalopathy with Spheroids and Pigmented Glia”
    Philip W. Tipton, Klaas J. Wierenga, Zbigniew K. Wszołek · 2022 · Movement Disorders
  43. Leucoencefalopatie ereditarie e leucodistrofie dell’adulto
    Xavier Ayrignac, Clarisse Carra Dalliere, Pierre M. Labauge · 2022 · EMC - Neurologia
  44. CSF1R-related leukoencephalopathy with parkinsonism and dementia: functional neuroimaging findings
    Hansol Im, Sang‐Won Yoo, Byoung Seok Ye, Jisook Yim, Joong‐Seok Kim · 2022 · Neurological Sciences
  45. A recurrent pathogenic splicing mutation of Colony-stimulating factor 1 receptor is responsible for a Chinese family with diffuse leukoencephalopathy
    Li Zhu, W Zhang, C -F Hu, Liang‐Liang Fan, Y -H Liu · 2023 · QJM
  46. Démarche diagnostique devant une leucodystrophie métabolique de l’adulte
    Fanny Mochel · 2024 · Pratique Neurologique - FMC
  47. Reply to: Heterogeneity of CSF1R ‐ RD : Genes, Environment, or Both?
    Jingying Wu, Li Hua Cao · 2024 · Movement Disorders
  48. Degenerazioni lobari frontotemporali: neuropatologia, genetica e classificazione
    Dario Saracino, Isabelle Le Ber, Vincent Deramecourt · 2024 · EMC - Neurologia
  49. CSF-1R-related leukoencephalopathy: a rare cause of young-onset progressive cognitive decline
    Rajat Manchanda, Mritunjai Kumar, Ashutosh Tiwari, Niraj Kumar · 2024 · Acta Neurologica Belgica
  50. Progressive dementia and seizures as distinguishing features in adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
    Youngjoon Kim, Tae Jung Kim, Sang‐Bae Ko · 2024 · Epileptic Disorders
  51. Adult leukoencephalopathy with axonal spheroids and pigmented glia
    Yu. N. Rushkevich, Т.С. Павловская, О.Н. Левшук, Д.А. Антоненко, Likhachev Sa, Е.В. Мальгина · 2025 · S S Korsakov Journal of Neurology and Psychiatry
  52. Expanding the Tyrosine Kinase Domain of CSF1R ? A Case Report From an Adult‐Onset Leukoencephalopathy
    Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso et al. · 2025 · American Journal of Medical Genetics Part A
  53. Hereditary diffuse leukoencephalopathy with axonal spheroids: description of a clinical case
    Остапчук Екатерина Сергеевна, Oleg Pavlovich Glinin, Малахов Максим Владимирович · 2025 · Medical alphabet
  54. A 43-year-old female with personality changes and alien limb
    Anza Zahid, Zbigniew K. Wszołek, Abdul Rahman Alchaki · 2025 · Oxford Medical Case Reports
  55. Movement Disorders in CSF1R-Related Leukoencephalopathy: A Case Series
    Nitish L. Kamble, Reghunathan Sindhu Harishma, Vikram Venkappayya Holla, Shweta Prasad, Jitender S. Saini, Pramod Kumar Pal · 2025 · Annals of Indian Academy of Neurology
  56. A case report and review of the literature on hereditary diffuse leukoencephalopathy with spheroids presenting with stroke-like symptoms
    Jing Zhou, Yiming Wang, Yingte Wang, Jiahao Li, Airong Yang, Zhiming Li, Zhiming Li · 2025 · Clinical Neurology and Neurosurgery
  57. CSF1R-Related Leukoencephalopathy
    Daniel Demehin, Daniel L. Kenney‐Jung, Francis Deng · 2025 · Mayo Clinic Proceedings
  58. Crab Walk‐Like Gait in CSF1R ‐Related Leukoencephalopathy
    Pedro Henrique Almeida Fraiman, Raphael Pinheiro Camurugy da Hora, Orlando Graziani Póvoas Barsottini, José Luiz Pedroso, Alberto Javier Espay · 2025 · Movement Disorders Clinical Practice
  59. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia mimicking adult-onset Krabbe disease
    Pu Yin, Xue Mei Han, Xueqin Zhou, Dian He · 2025 · Journal of Clinical Neuroscience
  60. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked to CSF1R mutation: A case report
    Jivan Morey, Kamalesh Tayade, Dnyaneshwar Asole, Haresh Bharote, Anil Venkitachalam, Anarya Karle, Amarnath Chavan · 2025 · Annals of Movement Disorders
  61. A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report
    HongYan Wu, JingYu Shi, X.L. Wang, Mei Yang, Jing Cai · 2025 · Frontiers in Genetics
  62. Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders
    Tomasz Chmiela, Madison Reeves, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Audrey J. Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton-Jones, Robert C. Spitale et al. · 2025 · medRxiv
  63. Reply to: “Microglia Replacement in CSF1R ‐ RD : Current Evidence and Future Priorities”
    Hemmo A. F. Yska, Stéphanie Nguyen, Marianne Golse, Fanny Mochel, Violetta Zujovic · 2025 · Movement Disorders
  64. Additional file 1 of Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
    Jie Pan, Jaume Forés-Martos, Claire Delpirou Nouh, Tanner D. Jensen, Kristen Vallejo, Romain Cayrol, Saman Seyed Ahmadian, Euan Angus Ashley, Michael D. Greicius, Inma Cobos · 2024 · Figshare
  65. Additional file 3 of Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
    Jie Pan, Jaume Forés-Martos, Claire Delpirou Nouh, Tanner D. Jensen, Kristen Vallejo, Romain Cayrol, Saman Seyed Ahmadian, Euan Angus Ashley, Michael D. Greicius, Inma Cobos · 2024 · Figshare
  66. Additional file 4 of Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
    Jie Pan, Jaume Forés-Martos, Claire Delpirou Nouh, Tanner D. Jensen, Kristen Vallejo, Romain Cayrol, Saman Seyed Ahmadian, Euan Angus Ashley, Michael D. Greicius, Inma Cobos · 2024 · Figshare
  67. Additional file 5 of Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
    Jie Pan, Jaume Forés-Martos, Claire Delpirou Nouh, Tanner D. Jensen, Kristen Vallejo, Romain Cayrol, Saman Seyed Ahmadian, Euan Angus Ashley, Michael D. Greicius, Inma Cobos · 2024 · Figshare
  68. Additional file 2 of Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
    Jie Pan, Jaume Forés-Martos, Claire Delpirou Nouh, Tanner D. Jensen, Kristen Vallejo, Romain Cayrol, Saman Seyed Ahmadian, Euan Angus Ashley, Michael D. Greicius, Inma Cobos · 2024 · Figshare
  69. Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization
    Yohei Mima, Hisakazu Nakajima, Masataka Koike, Toshiaki Goda, Sae Mizuno, Toshiya Kizaki, Norikazu Hara, Takeshi Ikeuchi · 2026 · Internal Medicine
  70. A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD)
    Anup N. Sonti, Elizabeth Joe, Jillian V. Berry, Michelle McDonnell, S. Ahmad Sajjadi, Nasim Sheikh‐Bahaei, Lilyana Amezcua, Danielle Feigenbaum, Mark Lew, Mathew M. Blurton-Jones et al. · 2026 · Neurocase
  71. Ddx20, DEAD-box helicase 20 is essential for maintaining microglial homeostasis
    Yosuke Kawai, Norihisa Bizen, Kei Nishiyama, Hirohide Takebayashi · 2026 · Experimental Neurology
  72. Natural History of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP): A Retrospective Patient Cohort Study
    Stefanie N. Hayer, Donald G. McLaren, Robin M. Nance, Holger Hengel, Benjamin Röeben, Melanie Kellner, Eva Bürkle, Ludger J. Schöls, Benjamin Bender · 2026 · Neurology and Therapy
  73. Context-Dependent Regulation of Microglial Metabolic and Immune States via IL-3/CD123 Signaling: Implications for Glial Crosstalk and Cognitive Impairment
    Zhongxu Yu, Yi Lin, Erming Yang, Xiaofei Ji, Jiahui Liu, Yang Jiao · 2026 · Molecular Neurobiology
  74. The path to clinical application of human microglia transplantation for the treatment of CSF1R-related disorder
    Tomasz Chmiela, Robert C. Spitale, Zbigniew K. Wszołek · 2026 · Expert Review of Neurotherapeutics
  75. The First Autopsy‐Proven Case of CSF1R ‐Related Leukoencephalopathy Harboring the p. Cys774Arg Mutation
    Hiroyuki Hatsuta, Akitoshi Takeda, Tomomi Fujita, Yuji Nakayama, Kaoru Yagita, Terunori Sano, Taro Shimono, Kaori Sakamoto, Kenichi Kohashi, Ai Obinata et al. · 2026 · Neuropathology
  76. Variant-specific RNA testing resolves variants of uncertain significance in exome testing
    Audrey O'Neill, Grace E. VanNoy, Brooklynn Gasser, Jessica Gage, Jessica Grzybowski, Carolyn Horton, Melissa Holman, Claire Watson, Shoji Ichikawa, Changrui Xiao et al. · 2026 · BMC Genomics
  77. The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
    David S. Lynch, Charles Wade, Ludger J. Schöls, Stefanie N. Hayer, Jeffrey Marc Gelfand, Wolfgang Köhler, Caroline Bergner, Paulo Victor Sgobbi de Souza, Elizabeth C. Finger, Nicole I. Wolf et al. · 2026 · Brain Communications
  78. Beyond Immunity: Macrophages as Regulators of Vertebrate Morphogenesis
    Goretti Moran, Cristina Duarte‐Olivenza, Juan M. Hurlé, Juan Antonio Montero, Carlos Ignacio Lorda-Diez · 2026 · Cells
  79. Racial Distribution of Tenosynovial Giant Cell Tumor
    Felicia Tejawinata, Malena Jhonson, Pingfu Fu, Ankit Mangla · 2026 · American Journal of Clinical Oncology
  80. Neuroinflammation Detected by TSPO PET in Adult Onset Leukodystrophy With Axonal Spheroids and Pigmented Glia
    Udunna Anazodo, Linshan Liu, Justin W. Hicks, Michael S. Kovacs, Teneille Emma Gofton, Lauren Richardson-Beswick, Sarah Jesso, Kristy K. L. Coleman, Ryan Taylor, Lena K. Palaniyappan et al. · 2026 · Neurology Open Access
  81. Colony‐stimulating factor 1 receptor‐related disorder: Clinical variability of biallelic variants
    Łukasz Milanowski, Josiane de Souza, Mara Lúcia Schmitz Ferreira Santos, Hélio Afonso Ghizoni Teive, John K. Fink, Jennifer L. Orthmann‐Murphy, Kaley Arnold, Jarosław Dulski, CSF1R‐RD Study Group, Zbigniew K. Wszołek · 2026 · Developmental Medicine & Child Neurology
  82. Acupuncture for Symptomatic Management in Suspected CSF1R-Related Leukoencephalopathy: A Case Report
    Sang Chee Yeo, Hui Sun · 2026 · Medical Acupuncture
  83. CSF1R haploinsufficiency reveals subtle and selective age- and sex-dependent vulnerabilities in cognition and white matter without overt neurodegeneration
    Scheila Daiane Schmidt, Daniel Menezes Guimarães, Aja E. Hogan-Cann, Alycia M Crooks, Vladislav Novikov, Liliana German‐Castelan, Jue Fan, Matthew F. Cowan, Chris Fodor, Nikita Ollen‐Bittle et al. · 2026 · Neurobiology of Disease
  84. Spatial transcriptomics analysis of post-mortem brain tissues from Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) patients
    Siling Du · 2025 · Zenodo (CERN European Organization for Nuclear Research)