Results 51 to 60 of about 9,985 (202)

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model

Frontiers in Neurology, 2021
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity ...
Milvia Alata, Arturo González-Vega, Valeria Piazza, Anke Kleinert-Altamirano, Carmen Cortes, Juan C. Ahumada-Juárez, Jose R. Eguibar, Jose R. Eguibar, Alejandra López-Juárez, Victor H. Hernandez   +9 more
doaj   +1 more source

Spatial Transcriptomics Reveals a T Cell‐Mediated Microglial Activation Axis of Immune Checkpoint Inhibition‐Related Adverse Events in the Brain

Advanced Science, EarlyView.
Immune checkpoint inhibition (ICI) reshapes the hippocampal neuroimmune niche. Spatial transcriptomic profiling and human brain histological analyses identify neuroinflammation and altered neuronal and glial programs. Notably, T cell depletion prevents ICI‐driven microglial activation, establishing the T cell–microglia crosstalk axis as a driving ...
Devyani Swami, Sanad M. El‐Khatib, Suhas Sureshchandra, Elise Nguyen, Janaki Manoja Vinnakota, Robert Zeiser, Shivashankar Othy, Munjal M. Acharya   +7 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Congenital hypomyelinating neuropathy. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1985
Two patients with congenital hypomyelinating neuropathy are reported with details of sural nerve pathology. The resemblance of this condition to the hypomyelinating neuropathy of Trembler mice is discussed and the pertinent medical literature reviewed.
Y, Harati, I J, Butler
openaire   +2 more sources

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source

Long‐Term Effects of Kangaroo Mother Care on Neuromotor Development in Adults Born Preterm: A Transcranial Magnetic Stimulation Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To assess long‐term effects of Kangaroo Mother Care (KMC) on motor development in adults born with birth weights ≤ 1800 g, compared to conventional neonatal care. Methods This cohort analysis included 214 young adults with a history of birth weights ≤ 1800 g, mostly preterm, originally enrolled in a randomized controlled trial between 1993
Sandra Milena Gómez‐Ramírez, Jairo Alberto Zuluaga‐Gómez, Nathalie Charpak, Carlos Castañeda‐Orjuela   +3 more
wiley   +1 more source

Transgenic neuronal overexpression reveals that stringently regulated p23 expression is critical for coordinated movement in mice

Molecular Neurodegeneration, 2011
Background p23 belongs to the highly conserved p24 family of type I transmembrane proteins, which participate in the bidirectional protein transport between the endoplasmic reticulum and Golgi apparatus.
Gong Ping, Roseman Jelita, Fernandez Celia G, Vetrivel Kulandaivelu S, Bindokas Vytautas P, Zitzow Lois A, Kar Satyabrata, Parent Angèle T, Thinakaran Gopal   +8 more
doaj   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source