Results 91 to 100 of about 600,045 (285)

Spatiotemporal Multi‐Omic Mapping Reveals Liver‐Muscle Metabolic Crosstalk in Cancer Cachexia

Advanced Science, EarlyView.
The interactive CCAtlas platform delineates cross‐species, spatiotemporal, and sex‐specific molecular dynamics and metabolic rewiring across organs during cancer cachexia. Hepatic Gamt downregulation curtails hepatic creatine synthesis to trigger systemic creatine insufficiency and consequent skeletal muscle atrophy in LLC tumour‐bearing mice ...
Zihan Tian, Qianyu Wang, Wenyan Gao, Xianfeng Li, Jiawen Fan, Xiaoliang Wu, Siqi Liu, Xiangdong Ming, Danna Yeerken, Mutian Shen, Qingjie Min, Qimin Zhan, Yan Wang   +12 more
wiley   +1 more source

Multiple system atrophy—cerebellar type: Diagnostic challenge in resource‐limited settings case report

Clinical Case Reports
Key Clinical Message This case report highlights the challenges of diagnosing MSA‐C in resource‐limited settings. MRI findings like the “hot cross bun” sign can be supportive, but the unavailability of advanced tools like seed amplification assay may ...
Gebeyehu Tessema Azibte, Bereket Abraha Molla, Sebhatleab Teju Mulate, Selam Kifelew Melkamu, Zekarias Seifu Ayalew   +4 more
doaj   +1 more source

Cerebellar atrophy is frequently associated with non-paraneoplastic sensory neuronopathy

Arquivos de Neuro-Psiquiatria, 2011
Sensory neuronopathies (SN) are peripheral nervous system disorders associated with degeneration of dorsal root ganglion neurons. Despite the evidence of a defective proprioceptive sensory input in SN,the prominent gait and truncal ataxia raises the ...
Alfredo Damasceno, Marcondes C. França Jr, Fernando Cendes, Anamarli Nucci   +3 more
doaj   +1 more source

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

Probing the Energy Landscape of α‐Synuclein Amyloid Fibril Formation by Systematic K‐to‐Q Mutagenesis

Advanced Science, EarlyView.
We use lysine‐to‐glutamine mutations to study the effect of electrostatics on the kinetics and thermodynamics of alpha‐synuclein amyloid fibril formation. We find that mutational effects map on their structural context within fibrils and identify residues that modulate the energy landscape of alpha‐synuclein self‐assembly. Our work outlines a scalable,
Antonin Kunka, Azad Farzadfard, Jacob Aunstrup Larsen, Rasmus Krogh Norrild, Federica Saraceno, Celia Fricke, Hossein Mohammad‐Beigi, Ahmed Sadek, Jonas Folke, Susana Aznar, Alexander K. Buell   +10 more
wiley   +1 more source

Acute Cerebellar Ataxia Associated with Modest Elevation of Anti-GAD Antibodies in a Young Patient

Tremor and Other Hyperkinetic Movements, 2019
Background: Anti-GAD-related cerebellar ataxia has rarely been described as an acute cause of autoimmune ataxia. Phenomenology Shown: A young female who acutely developed anti-GAD-associated ataxia with magnetic resonance imaging (MRI) showing ...
Juliana Gomez, Dongkwan Jin
doaj   +1 more source

Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy

, 2010
Neurodegenerative diseases affect the cerebellum of numerous dog breeds. Although subjective, magnetic resonance (MR) imaging has been used to detect cerebellar atrophy in these diseases, but there are few data available on the normal size range of the ...
Thames, R.A., Flegel, T., O'Brien, D.P., Robertson, I.D., Henke, D., Olby, N.J., Coates, J.R.   +6 more
core   +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

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

Metabolites
Citric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The ACO2 gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle.
Maximilian Penkl, Johannes A. Mayr, René G. Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt   +9 more
doaj   +1 more source

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Balkan Medical Journal, 2018
Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability.
G. Yeşil, A. Aralaşmak, E. Akyüz, D. İçağasıoğlu, Türkan Uygur Şahin, Y. Bayram   +5 more
semanticscholar   +1 more source