Results 181 to 190 of about 352,785 (317)

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Schizophrenia, variability, and the Anna Karenina principle. [PDF]

Psychiatry Res Neuroimaging
Murphy M, Öngür D.
europepmc   +1 more source

Hypothalamic Control of Liver Health and Disease: From Circuits to Pathophysiology and Therapies

Advanced Science, EarlyView.
This review delineates the hypothalamic circuits that control liver homeostasis via autonomic and neuroendocrine pathways. Dysregulation of this hypothalamus–liver axis drives disease progression across a spectrum including steatotic liver disease, liver inflammation and injury, fibrosis, cirrhosis, and hepatocellular carcinoma.
Qin Tang, Jiahui Li, Haiying Song, Ailin Zhang, Haifeng Zeng, Yining Xu, Li Mo, Jinhan He   +7 more
wiley   +1 more source

Targeting the KCNC3‐Dependent Anterior Insular‐Lateral Orbitofrontal Cortex Glutamatergic Circuit Attenuates Post‐Traumatic Anxiety

Advanced Science, EarlyView.
Frontal lobe traumatic brain injury is associated with hyperactivity of an insular–orbitofrontal circuit in both patients and mice. By combination of integrating functional imaging, cell‐type–specific circuit manipulation, single‐cell transcriptomics, and whole‐cell recordings, this work identifies the downregulation of the potassium channel KCNC3 in ...
Meng‐Ge Li, Xiao‐Bo Qian, Hai‐Long Zhang, Di Li, Ling Ji, Xin‐Chun Xu, Jia‐Sheng Ding, Li‐Jun Yin, Li Zhang, Guang‐Yin Xu, Rong Gao   +10 more
wiley   +1 more source

An MR-Neuroimaging Study of Structural and Vascular Brain Networks in Elderly Adults with Obesity and Diabetes who Practice Structural Yoga. [PDF]

F1000Res
Paramashiva PS, Maiya GA, Kadavigere R, Dkhar W, Sukumar S.   +4 more
europepmc   +1 more source

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +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, EarlyView.
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

Neuroimaging outcomes in suspected papilledema. [PDF]

Sci Rep
Knoche T, Guelsoy N, Pietrock C, Siebert E, Rossel-Zemkouo M, Jami Z, Danyel LA.   +6 more
europepmc   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Multimodal MRI marker of cognition explains the association between cognition and mental health in the UK Biobank. [PDF]

Elife
Buianova I, Silvestrin M, Deng JD, Pat N.   +3 more
europepmc   +1 more source