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1. aFTLD-U presenting with primary progressive aphasia suggestive of non-fluent type with apraxia of speech NSTL国家科技图书文献中心

Patira, Riddhi | Shahabadi, Ameneh Za...... - 《Neurocase》 - 2025,31(3) - 108～111 - 共4页

摘要： with ubiquitin-positive* inclusions (aFTLD-U) is a* | Atypical frontotemporal lobar degeneration | rare subtype of Frontotemporal Lobar Degeneration | . aFTLD-U is reported with a typically young onset | behavioral variant of frontotemporal dementia syndrome

关键词： Frontotemporal lobar degeneration | primary progressive aphasia | apraxia of speech | behavioral variant of frontotemporal dementia | fused in sarcoma

2. GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy NSTL国家科技图书文献中心

Lei,Bao | Xiaowen,Li ... - 《Brain》 - 2025,148(2) - 467～479 - 共13页 - 被引量：2

摘要： lacking inclusions. Congo red-positive* amyloid* | staining, ubiquitin, p62 and uN2CpolyG immunostaining on | frequently in small vessels lacking intranuclear inclusions | Abstract The expansion of GGC repeats within | NOTCH2NLC leads to translation of the uN2CpolyG protein

关键词： NOTCH2NLC GGC repeat expansions | neuronal intranuclear inclusion disease | uN2CpolyG protein | cerebral amyloid angiopathy | cerebral microbleeds

3. TDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies NSTL国家科技图书文献中心

Pickles, Sarah R. | Bejarano, Jesus Gonz...... - 《Movement disorders》 - 2025,40(4) - 662～671 - 共10页 - 被引量：2

摘要： brains accumulate inclusions positive for ubiquitin | BackgroundPerry syndrome (PS) is a rare and | fatal hereditary autosomal dominant neurodegenerative | disorder caused by mutations in dynactin (DCTN1). PS | , transactive-response DNA-binding protein of 43 kDa (TDP-43

关键词： transactive-response DNA-binding protein of 43 kDa (TDP-43) | Perry syndrome | frontotemporal dementia | cryptic | frontotemporal lobar degeneration | transactive‐response DNA‐binding protein of 43 kDa (TDP‐43)

4. Dissecting the effect of ALS mutation S375G on the conformational properties and aggregation dynamics of TDP-43370-375 fragment NSTL国家科技图书文献中心

Xu Z. | Zhang J.... - 《Biophysical Chemistry: An International Journal Devoted to the Physical Chemistry of Biological Phenomena》 - 2024,310 - 共5页 - 被引量：2

摘要： protein of 43 kDa (TDP-43) into ubiquitin-positive | inclusions is closely associated with amyotrophic lateral | © 2024 Elsevier B.V.The aggregation of | transactive response deoxyribonucleic acid (DNA) binding | sclerosis (ALS), frontotemporal lobar degeneration, and

关键词： Aggregation | Amyotrophic lateral sclerosis | Molecular dynamics simulation | Molecular mechanism | S375G mutation | TDP-43

5. Defining the Nature and Clinicopathologic Significance of Mallory-Denk-like Inclusions in Ovarian Fibromas: A Potential Degenerative Phenomenon Associated With Torsion NSTL国家科技图书文献中心

Krishnamurthy, Kriti... | Stillman, Isaac E.... - 《International journal of gynecological pathology: Official journal of the International Society of Gynecological Pathologists》 - 2024,43(3) - 290～295 - 共6页

摘要： without inclusions. The inclusions* were positive for* | inclusions are irregularly shaped and eosinophilic as seen | under the light microscope. MBD-like inclusions* have* | . Though rare, intracytoplasmic inclusions* have been* | inclusions resembling MDBs. Forty-three ovarian fibromas

关键词： Mallory denk bodies | Cytoplasmic inclusions | MBD-like inclusions | Ovarian fibromas | Type 3 Mallory hyaline | HEAT-SHOCK PROTEINS | INTERMEDIATE-FILAMENTS | BODIES | DISEASE | HYALINE...

6. Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs NSTL国家科技图书文献中心

Martin Paucar | Daniel Nilsson ... - 《Journal of Internal Medicine》 - 2024,296(3) - 234～248 - 共15页 - 被引量：3

摘要：, mainly neuronal, inclusions* positive for p62 and* | ubiquitin were sparse but widespread in the CNS. This | Abstract Background Spinocerebellar ataxia 4 | (SCA4), characterized in 1996, features adult‐onset | ataxia, polyneuropathy, and linkage to chromosome

关键词： nucleotide expansion | polyglycine | spinocerebellar ataxia | ZFHX3

7. Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes NSTL国家科技图书文献中心

Fodder, Katherine | Murthy, Megha ... - 《Acta Neuropathologica》 - 2023,146(1) - 77～95 - 共19页 - 被引量：2

摘要：-43 positive* inclusions (FTLD-TDP) and FTLD with tau* | -positive* inclusions (FTLD-tau) are the most common* | were enriched for genes implicated in the ubiquitin | Frontotemporal lobar degeneration (FTLD) is an | umbrella term describing the neuropathology of a

关键词： DNA methylation | Frontotemporal dementia | Progressive supranuclear palsy | Human brain tissue | EWAS | Co-methylation | PROGRESSIVE SUPRANUCLEAR PALSY | STRESS GRANULES | PROTEIN | METHYLATION...

8. The ovine Type II Gaucher disease model recapitulates aspects of human brain disease. NSTL国家科技图书文献中心

Winner, Leanne K. | Beard, Helen ... - 《Biochimica et biophysica acta. Molecular basis of disease: BBA》 - 2023,1869(4) - 共0页 - 被引量：1

摘要： inclusions reactive for TOMM20, ubiquitin and most | shrunken and deeply Nissl stain positive. Amoeboid | Acute neuronopathic (type II) Gaucher disease | (GD) is a devastating, untreatable neurological | disorder resulting from mutations in the

关键词： Sheep | Lysosomal storage disorder | Neuronopathic | Gliosis | Apoptosis | Sphingolipidoses | MOUSE MODEL | GLUCOCEREBROSIDASE | DEFICIENCY | ICHTHYOSIS...

9. Stress-inducible phosphoprotein 1 (HOP/STI1/STIP1) regulates the accumulation and toxicity of α-synuclein in vivo SCIE Web of Science核心 NSTL国家科技图书文献中心

Rachel E.,Lackie | Aline S.,de Miranda ... - 《Acta Neuropathologica》 - 2022,144(5) - 881～910 - 共30页 - 被引量：8

摘要： phosphorylated α-synuclein in ubiquitin-positive* inclusions. In* | accompanied by inclusions* when injected with α-synuclein pre* | Abstract The predominantly pre-synaptic | intrinsically disordered protein α-synuclein is prone to | misfolding and aggregation in synucleinopathies, such as

关键词： Chaperone | Hsp90 | Hsp70 | STIP1 | HOP | Parkinson’s | Lewy body | Touchscreens | α-Synuclein | Neuropathology...

10. Cytoplasmic TDP-43 is involved in cell fate during stress recovery SCIE Web of Science核心 NSTL国家科技图书文献中心

Lee, Youn-Bok | Scotter, Emma L.... - 《Human Molecular Genetics》 - 2022,31(2) - 166～175 - 共10页 - 被引量：9

摘要：-positive* inclusions in affected neurons and glia* | patients to the cytoplasm, where it forms ubiquitin | TIA-1 positive* SGs. We demonstrate that inducing* | Transactive response DNA binding protein 43 | (TDP-43) is an RNA processing protein central to the

关键词： AMYOTROPHIC-LATERAL-SCLEROSIS | DNA-BINDING PROTEIN | SPLICING REGULATION | ALZHEIMERS-DISEASE | GRANULES | FUS | LOCALIZATION | MUTATIONS | DEMENTIA

摘要： with ubiquitin-positive inclusions (aFTLD-U) is a | Atypical frontotemporal lobar degeneration | rare subtype of Frontotemporal Lobar Degeneration | . aFTLD-U is reported with a typically young onset | behavioral variant of frontotemporal dementia syndrome