Results 101 to 110 of about 1,045,843 (356)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

A Multi‐Center Retrospective Cohort Study of Neurosarcoidosis Myelitis: Current Observations and Future Directions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.
Giovanna S. Manzano, Denis Balaban, Yihan Zhang, Brian Healy, Bart K. Chwalisz, Michael Levy, Nagagopal Venna, Barney J. Stern, Carlos A. Pardo, Paula Barreras, Nicole Bou Rjeily, Eoin P. Flanagan, Vyanka Redenbaugh, Allen J. Aksamit Jr., Spencer Hutto, Max Herman, Sally El Sammak, Elsa C. Rodriguez, Laura Snider, Hannah Rains, Mayra Montalvo, Torge Rempe, Sergi Martinez Ramirez, Lucas Horta, Stacey Clardy, Jennifer Lord, Tracey A. Cho, Lama Abdel Wahed, Joseph R. Berger, Rohini D. Samudralwar, Noellie Rivera Torres, David B. Clifford, Steven Richard Dunham, Masoud Majed, Aram Zabeti, Samuel Marcucci, Yang Mao‐Draayer, Jon Doty, Paunel B. Agyei, Shamik Bhattacharyya   +39 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu, Oliver Robinson, Christina M. Lill, Anna Matton, Raquel Puerta, Pilar Sanz, Merce Boada, Agustín Ruiz, Lefkos Middleton, for the Alzheimer's Disease Neuroimaging Initiative   +9 more
wiley   +1 more source

Loss of non-coding RNA expression from the DLK1-DIO3 imprinted locus correlates with reduced neural differentiation potential in human embryonic stem cell lines

Stem cell research & therapeutics, 2015
IntroductionPluripotent stem cells are increasingly used to build therapeutic models, including the transplantation of neural progenitors derived from human embryonic stem cells (hESCs).
Chu-Fan Mo, Fang‐Chun Wu, K. Tai, Wei-Chun Chang, Kai-Wei Chang, H. Kuo, H. Ho, Hsin‐Fu Chen, Shau-Ping Lin   +8 more
semanticscholar   +1 more source

LIN28B Promotes Cancer Cell Dissemination and Angiogenesis

Advanced Biology, EarlyView.
Children diagnosed with high‐risk neuroblastoma have a 5‐year event‐free survival rate of less than 50% and poor outcomes after recurrence. Deregulation of the LIN28B oncogene can be addressed in these patients. Upregulation of LIN28B is shown to support the metastatic cascade.
Diana Corallo, Sara Menegazzo, Marcella Pantile, Silvia Bresolin, Carlo Zanon, Alessandro Davini, Massimiliano Mazzone, Alessandra Biffi, Sanja Aveic   +8 more
wiley   +1 more source

3D In Vitro Models of Breast Cancer: Current Challenges and Future Prospects Toward Recapitulating the Microenvironment and Mimicking Key Processes

Advanced Biology, EarlyView.
In vitro cancer models are advantageous for studying important processes such as tumorigenesis, cancer growth, invasion, and metastasis. The complexity and biological relevance increase depending on the model structure, organization, and composition of materials and cells.
Kyndra S. Higgins, Ah Joung Yu, Cheryl T. Gomillion   +2 more
wiley   +1 more source

Detecting Dengue in Flight: Leveraging Machine Learning to Analyze Mosquito Flight Patterns for Infection Detection

Advanced Biology, EarlyView.
Dengue infection alters mosquito flight behavior, enabling detection using machine learning classifiers. This study analyzes 3D flight trajectories and evaluates multiple models, showing that longer sequence lengths improve classification performance.
Nouman Javed, Adam J. López‐Denman, Prasad N. Paradkar, Asim Bhatti   +3 more
wiley   +1 more source

Loss of Stat3 in Prx1+ Progenitors Impairs Molar Root Development

Advanced Biology, EarlyView.
Stat3 critically regulates mandibular first molar and alveolar bone morphogenesis. Conditional ablation of Stat3 disrupts the osteogenic capacity of Prx1+ mesenchymal progenitors, as evidenced across in vivo and in vitro models. Abstract Signal Transducer and Activator of Transcription 3 (Stat3) acts as a central transcriptional modulator coordinating ...
Xin Feng, Wangyu Luo, Yichen Yao, Lichieh Lin, Laiting Chan, Jiarui Lu, Zijing Huang, Jingyi Feng, Le Zhao, Xiaolei Zhang, Liu Yang   +10 more
wiley   +1 more source

NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson’s disease-like phenotypes in mice

Molecular Neurodegeneration
Background The expansion of GGC repeats (typically exceeding 60 repeats) in the 5’ untranslated region (UTR) of the NOTCH2NLC gene (N2C) is linked to N2C-related repeat expansion disorders (NREDs), such as neuronal intranuclear inclusion disease (NIID ...
Haitao Tu, Xin Yi Yeo, Zhi-Wei Zhang, Wei Zhou, Jayne Yi Tan, Li Chi, Sook-Yoong Chia, Zhihong Li, Aik Yong Sim, Brijesh Kumar Singh, Dongrui Ma, Zhidong Zhou, Isabelle Bonne, Shuo-Chien Ling, Adeline S.L. Ng, Sangyong Jung, Eng-King Tan, Li Zeng   +17 more
doaj   +1 more source