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 +6 more
wiley +1 more source
<i>RAB24</i> Missense Variant in Dogs with Cerebellar Ataxia. [PDF]
Genes (Basel)Schwarz C +5 more
europepmc +1 more source
Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome
Pediatric Dermatology, EarlyView.ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet +4 more
wiley +1 more source
A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment. [PDF]
Genes (Basel)Cabrita Pinto RL +8 more
europepmc +1 more source
Outcomes of 87 small‐breed dogs surgically treated for Chiari‐like malformation and syringomyelia
Veterinary Surgery, EarlyView.Abstract Objective To report the outcomes of titanium mesh (TM) cranioplasty without polymethylmethacrylate (PMMA), incorporating a deliberate gap between the foramen magnum decompression (FMD) surface and the TM, in small‐breed dogs with Chiari‐like malformation and syringomyelia (CM/SM). Study design Retrospective clinical study.
Sung Su Park, Ji Young Park, Ho Jae Han
wiley +1 more source
The utilization of efgartigimod in the treatment of acute cerebellar ataxia: a case report. [PDF]
Front ImmunolYang LL, Ruan Y, Cai F, Xia Y.
europepmc +1 more source
Bilateral anterior inferior cerebellar artery territory brachium pontis infarcts of probable hemodynamic cause [PDF]
, 2004 Hamann, Gerhard F., Kalla, R., Mayer, T.
core +1 more source
Steady‐state Purkinje cell activity has limited predictive power for cerebellar output in disease
The Journal of Physiology, EarlyView.Abstract figure legend Cerebellar dysfunction can give rise to various movement disorders. Misfiring cerebellar neurons often underlie this dysfunction. Because Purkinje cells form inhibitory synapses onto cerebellar nuclei cells, it has been presumed that spike activity changes in Purkinje cells cause inverse spike activity changes in the downstream ...
Alyssa M Lyon +2 more
wiley +1 more source
Successful fresh formulation CD19 CAR-T cell therapy for GAD65 antibody-mediated cerebellar ataxia. A Case Report. [PDF]
Front ImmunolVaisvilas M +5 more
europepmc +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +1 more source