Results 41 to 50 of about 2,143,667 (228)

Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

Indian Pediatrics Case Reports
Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy.
Yamini Patial, Rohit Anand
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Element 3 Core Assessment Plan Template Core General Education Assessment, 2017-2018

, 2018
The Core Assessment Plan Template for Element 3 - Interdisciplinary Global Studies as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +2 more sources

The spectrum of myopathies in the city of São Paulo

Arquivos de Neuro-Psiquiatria, 1976
A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported.
José A. Levy, Abram Topczewski, Lucia Iracema Z. de Mendonça, Mayana Zatz, Ruth Blay Levisky   +4 more
doaj   +3 more sources

Element 6 Core Assessment Plan Template Core General Education Assessment, 2018-2019

, 2019
The Core Assessment Plant Template for Element 6 - Natural Science as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +2 more sources

Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV

Advanced Science, EarlyView.
Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes, Gabriela Silva, Mafalda Aleixo, Marta Gomes, Daniel Simão, Stephan J. Holtkamp, Diana D. Lobo, Pradeep Harish, Rosalind Jenkins, Lekh N. Dahal, Rui J. Nobre, Luís de Pereira de Almeida, Mark Trautwein, Paula M. Alves, Catarina Brito   +14 more
wiley   +1 more source

Element 2 Core Assessment Plan Template Core General Education Assessment, 2019-2020

, 2020
The AACU Math Literacy Rubric for Element 2 - Mathematics as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +2 more sources

Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
doaj   +1 more source

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

Orphanet Journal of Rare Diseases, 2020
Background Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a ...
Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd   +4 more
doaj   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, EarlyView.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source