Results 71 to 80 of about 52,839 (293)

Clinical characteristics of children affected by autism spectrum disorder with and without generalized hypotonia

, 2021
In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). Among 93 children, 32 (34.4%) had
Nunez, Alicia C., Lopez-Espejo, Mauricio A., Moscoso, Odalie C., Escobar, Raul G.   +3 more
core   +1 more source

An Engineered Biomimetic Nanoreactor With Cascade Functions for Targeted and Combinatorial Therapy of Ischemic Stroke

Advanced Healthcare Materials, EarlyView.
Preparation of RVG‐modified erythrocyte membrane‐coated HMPB nanocarriers loaded with L‐arginine and NBP (RM@HPAN) and its neuroprotective mechanism. After intravenous injection, RM@HPAN achieves prolonged circulation, RVG‐29‐mediated BBB penetration, and ischemic accumulation.
Shaofa Li, Ying Wu, Huimin Wei, Jinyong Teng, Zaizhi Yang, Jufang Chen, Bao Liao, Xiaoqin Huang, Lanqing Meng, Tong Li   +9 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

2p21 Deletions in hypotonia-cystinuria syndrome

, 2012
The significant role of the SLC3A1 gene in the aetiology of cystinuria is meanwhile well established and more than 130 point mutations have been reported. With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene
Venghaus, Andreas, Ensenauer, Regina, Eggermann, Thomas, Baudis, Michael; https://orcid.org/, Spengler, Sabrina, Zerres, Klaus, Denecke, Bernd, Baudis, Michael   +7 more
core   +1 more source

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

, 2022
Background  Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles.
Demir, Selma, Karal, Yasemin, Gurkan, Hakan, Eker, Damla, Karasalihoglu, Serap T., Yalcintepe, Sinem, Atli, Engin   +6 more
core   +1 more source

Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia [PDF]

, 2020
Aims To investigate the accuracy of phenotypic early-onset ataxia (EOA) recognition among developmental conditions, including developmental coordination disorder (DCD) and hypotonia of central nervous system origin, and the effect of scientifically ...
Maurits, Natalia M., Brouwer, Oebo F., Martinez-Manzanera, Octavio, Lawerman, Tjitske F., Lunsing, Roelineke J., Hubertus PH Kremer, Tjitske F Lawerman, Kremer, Hubertus P. H., Roelineke J Lunsing, Verschuuren-Bemelmans, Corien C., Sival, Deborah A., Natalia M Maurits, Corien C Verschuuren‐Bemelmans, Brandsma, Rick, Oebo F Brouwer, Octavio Martinez‐Manzanera, Rick Brandsma, Maurits, Natalia M.; id_orcid, Deborah A Sival   +18 more
core   +2 more sources

Chemical Screening Identifies Danofloxacin as a Self‐Renewal Agonist of Embryonic Stem Cells through Alleviation of HDAC1‐Mediated Deacetylation of Tert and Prdm10

Advanced Science, EarlyView.
This study identified Danofloxacin as a novel supporter of the maintenance of mouse embryonic stem cell (ESC) pluripotency. It functions partially by inhibiting HDAC1, which increases specific histone acetylation marks and activates key genes like Tert and Prdm10.
Yan Zhang, Junxiang Ji, Baoxing Dong, Zhenhua Zhu, Xucheng Lv, Peng Chen, Wenqiang Liu, Min Zhou, Shou‐Dong Ye   +8 more
wiley   +1 more source

Case Report: Neonatal PURA syndrome caused by a novel c.463C>G (p.Tyr155Ter) mutation

Frontiers in Pediatrics
PURA syndrome is a rare genetic disease characterized by significant phenotypic variability. This case report presents a 4-day-old female neonate presenting with hypotonia, feeding difficulties, and other symptoms.
Yongxin Wang
doaj   +1 more source

Bone Tissue in Down Syndrome Patients Deteriorates Following Aging: A Study Based on Bone Ultrasound Analysis

Journal of Medical Ultrasound, 2014
Osteoporosis represents one of the main factors contributing to premature morbidity in individuals with Down syndrome (DS) characterized by muscle hypotonia.
Mirela Gavris, Daniel Courteix, Sorin Serbanoiu, Iacob Hantiu, Corina Tifrea, Béatrice Ferry   +5 more
doaj   +1 more source

AGREE-II Appraisal of a clinical algorithm for hypotonia assessment [PDF]

, 2018
Objective: The objective of this study was to systematically appraise the quality of an evidenced-based clinical algorithm for the clinical assessment of hypotonia in children.
Govender, Pragashnie
core   +1 more source