Results 161 to 170 of about 47,850 (263)

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Giuseppina De Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Vestibular Loss and Cerebellar Ataxia: A Practical Approach. [PDF]

Ear Hear
Joffily L, Simonyan S, Giunti P, Tarnutzer AA, Koohi N, Kaski D.   +5 more
europepmc   +1 more source

Novel dorsal occipito‐cervical fixation using a patient‐specific implant and drill guide for a complex craniocervical junction anomaly in a dog

Veterinary Surgery, EarlyView.
Abstract Objective To describe a novel dorsal occipito‐cervical fixation technique utilizing a patient‐specific implant to stabilize complex craniocervical junction anomalies (CCJAs) in a small‐breed dog. Study design Case report. Animal A 7‐month‐old male Pomeranian dog.
Tae‐Wan Kwon, Kyu‐Won Kang, Ji‐Hey Lim, Cheongwoon Cho, Byung‐Jae Kang   +4 more
wiley   +1 more source

Improvement of <i>Mycoplasma pneumoniae</i>-Associated Acute Cerebellar Ataxia and Possible Encephalopathy After Intravenous Immunoglobulin. [PDF]

Case Rep Infect Dis
Ruff K, Douvoyiannis M.
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Kalampokini S, Keramidiotis I, Ravanidis S, Lochner P, Kimiskidis VK, Hadjigeorgiou GM.   +5 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Autoimmune cerebellopyramidal syndrome as a complex form of autoimmune cerebellar ataxia: a cohort study. [PDF]

Front Immunol
Liu M, Ren H, Fan S, Zhang L, Guan H.
europepmc   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Correction: Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia. [PDF]

Mol Neurobiol
Bellia F, Amodei L, Ruggieri AG, Potenza F, Viele M, Bomba M, Del Pizzo F, Iezzi M, Granzotto A, Federici L, Sallese M.   +10 more
europepmc   +1 more source