Results 81 to 90 of about 52,464 (357)

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li, Shunan Yu, Yanzhuo Zhang, Ying Wang, Xu Jiang, Chengai Wu   +5 more
wiley   +1 more source

Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics

Frontiers in Cardiovascular Medicine, 2022
Muscular dystrophies are chronic and debilitating disorders caused by progressive muscle wasting. Duchenne muscular dystrophy (DMD) is the most common type. DMD is a well-characterized genetic disorder caused by the absence of dystrophin.
Carlos D. Vera, Angela Zhang, Paul D. Pang, Joseph C. Wu, Joseph C. Wu   +4 more
doaj   +1 more source

Resilience family of receiver operating characteristic curves [PDF]

arXiv, 2022
A new semiparametric model of the ROC curve based on the resilience family or proportional reversed hazard family is proposed which is an alternative to the existing models. The resulting ROC curve and its summary indices (such as area under the curve (AUC) and Youden index) have simple analytic forms.
arxiv  

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
The increase in size of publicly available variant annotation and Mendelian disease databases have allowed for novel approaches to identify the likely direction of effect of genetic mutations. Specifically, we found a simple ratio of missense mutations is capable of identifying genes likely to cause disease through a gain‐of‐function mechanism ...
Andrew K. Ressler, David B. Goldstein
wiley   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene

Stem Cell Research, 2022
LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui, Jing Tan, Jing Jin, Weijiao Ye, Yaping Zhou, Junqing Chen   +5 more
doaj  

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Threshold Values of Sleep Spindles Features in Healthy Adults Using Scalp‐EEG and Associations With Sleep Parameters

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep spindles are an electrophysiological fingerprint of the sleeping human brain. They can be described in terms of duration, frequency, amplitude, and density, and vary widely according to age and sex. Spindles play a role in sleep and wake functions and are altered in several neurological and psychiatric disorders.
Julien Coelho, Heloïse Degros, Jean‐Arthur Micoulaud‐Franchi, Patricia Sagaspe, Emmanuel d'Incau, Paul Galvez, Christian Berthomier, Pierre Philip, Jacques Taillard   +8 more
wiley   +1 more source

Safety and immunogenicity of mRNA COVID‐19 vaccine in inpatients with muscular dystrophy

Muscle &Nerve, Volume 67, Issue 2, Page 117-123, February 2023., 2023
Abstract Introduction/Aims Due to muscular weakness and cardiopulmonary dysfunction, patients with muscular dystrophy (MD) have an increased risk of serious complications from coronavirus disease‐2019 (COVID‐19). Although vaccination is recommended, COVID‐19 vaccination safety and immunogenicity in these patients are unknown.
Tomoko Saito, Toshio Saito, Hiroya Hashimoto, Katsuhisa Ogata, Michio Kobayashi, Hiroto Takada, Satoshi Kuru, Takashi Kimura, Akinori Nakamura, Tsuyoshi Matsumura   +9 more
wiley   +1 more source