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Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS/FTD.

• Authors : Geng Y; Clinical Research Institute of the First Affiliated Hospital of Xiamen University, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, China.; Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, China.

Subjects: C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/genetics ; C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/chemistry ; G-Quadruplexes* Frontotemporal Dementia With Motor Neuron Disease

• Source: Nucleic acids research [Nucleic Acids Res] 2024 Jul 22; Vol. 52 (13), pp. 7961-7970.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand.

• Authors : Błaszczyk L; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Z. Noskowskiego 12/14, 61-704, Poland.; Ryczek M

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/metabolism ; Frontotemporal Dementia*/Frontotemporal Dementia*/Frontotemporal Dementia*/genetics

• Source: Nucleic acids research [Nucleic Acids Res] 2024 Jun 24; Vol. 52 (11), pp. 6707-6717.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion.

• Authors : Van Wijk IF; Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands and.; Research support and Biostatistics, Julius Centre for Health Sciences and Primary Care, Utrecht University, Utrecht, Netherlands.

Subjects: Frontotemporal Dementia*/Frontotemporal Dementia*/Frontotemporal Dementia*/genetics ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/epidemiology ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics

• Source: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2024 Feb; Vol. 25 (1-2), pp. 188-196. Date of Electronic Publication: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Basal parasympathetic deficits in C9orf72 hexanucleotide repeat expansion carriers relate to smaller frontoinsula and thalamus volume and lower empathy

• Authors : Roy, Ashlin RK; Noohi, Fate; Morris, Nathaniel A

Subjects: Biomedical and Clinical Sciences; Clinical Sciences; Dementia

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Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report.

• Authors : Xue YY; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.; Wu ZY

Subjects: C9orf72 Protein/C9orf72 Protein/C9orf72 Protein/*genetics ; DNA Repeat Expansion/DNA Repeat Expansion/DNA Repeat Expansion/*genetics ; Frontotemporal Dementia/Frontotemporal Dementia/Frontotemporal Dementia/*genetics

• Source: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2021 Jun; Vol. 27 (6), pp. 725-727. Date of Electronic Publication: 2021 Mar 31.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Role of C9orf72 hexanucleotide repeat expansions in ALS/FTD pathogenesis

• Authors : Yanyan Geng; Qixu Cai

Subjects: C9orf72; hexanucleotide repeat expansions; G-quadruplex

• Source: Frontiers in Molecular Neuroscience, Vol 17 (2024)

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Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation

• Authors : Emiliano Giardina; Paola Mandich; Roberta Ghidoni

Subjects: C9orf72; GGGGCC hexanucleotide repeat; amyotrophic lateral sclerosis

• Source: Frontiers in Neurology, Vol 15 (2024)

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Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion.

• Authors : Babić Leko M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Župunski V

Subjects: Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; C9orf72 Protein/C9orf72 Protein/C9orf72 Protein/*genetics ; DNA Repeat Expansion/DNA Repeat Expansion/DNA Repeat Expansion/*genetics Frontotemporal Dementia With Motor Neuron Disease

• Source: Behavioural neurology [Behav Neurol] 2019 Jan 15; Vol. 2019, pp. 2909168. Date of Electronic Publication: 2019 Jan 15 (Print Publication: 2019).Publisher: Wiley Country of Publication: Netherlands NLM ID: 8914585 Publication Model: eCollection Cited Medium: Internet ISSN: 1875-8584

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Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.

• Authors : Schipper LJ; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Raaphorst J

Subjects: Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*pathology ; Brain/Brain/Brain/*pathology ; Frontotemporal Dementia/Frontotemporal Dementia/Frontotemporal Dementia/*pathology

• Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2016 Oct; Vol. 42 (6), pp. 547-60.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN:

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No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort.

• Authors : König, Theresa^1,2 (AUTHOR) ; Leutmezer, Fritz^1,2 (AUTHOR) ; Berger, Thomas^1,2 (AUTHOR)

Subjects: *MULTIPLE sclerosis; *FRONTOTEMPORAL dementia; *YOUNG adults

• Source: International Journal of Molecular Sciences. Jul2023, Vol. 24 Issue 14, p11254. 9p.

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