Results 81 to 90 of about 840,189 (237)

Novel capillary defects in spinal muscular atrophy [PDF]

, 2015
Spinal Muscular Atrophy (SMA) is an autosomal, recessive form of childhood motor neuron disease and the most common genetic cause of infant mortality in the western world.
Somers, Eilidh
core   +3 more sources

PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)

Мать и дитя в Кузбассе, 2020
Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина   +6 more
doaj  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

Neurobiology of Disease, 2006
Several mice models have been created for spinal muscular atrophy (SMA); however, there is still no standard preclinical testing system for the disease.
Li-Kai Tsai, Ming-Shung Tsai, Tzer-Bin Lin, Wuh-Liang Hwu, Hung Li   +4 more
doaj   +1 more source

Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A

Stem Cell Research, 2020
Spinal muscular atrophy (SMA) is a genetic disease, which characterized by the degeneration of motor neurons in the spinal cord and further striated muscle atrophy. The research of the processes in diseased neurons is complicated due to the impossibility
V.S. Ovechkina, M.A. Maretina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, S.M. Zakian, K.R. Valetdinova   +6 more
doaj   +1 more source

Wearable Robot Boosts Muscle Recovery in Adolescents With Spinal Muscular Atrophy

FlexTech, EarlyView.
Isokinetic training robot with a variable stiffness mechanism for juveniles with SMA type II. Credit: Yuebing Li et al./Nature. ABSTRACT Yuebing Li and colleagues developed a lightweight wearable device integrating a variable‐stiffness mechanism with a back‐drivable damping motor to deliver isokinetic resistance training for adolescents with spinal ...
Yin Huang
wiley   +1 more source

A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care

Arquivos de Neuro-Psiquiatria
Background Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça, Juliane Suellen Arndt de Godoi, Edmar Zanoteli   +2 more
doaj   +1 more source

Artificial structures for human‐machine interfaces with closed‐loop interaction

FlexMat, EarlyView.
Artificial structures bridge sensing and feedback in closed‐loop human‐machine interfaces by providing geometry‐enabled mechanical and functional programmability. This review maps the role of artificial structures in diverse sensing modalities and feedback strategies, and illustrates their integration into closed‐loop interaction systems, highlighting ...
Taiqi Hu, Taisong Pan, Siqi Chen, Yiting Zhang, Yuan Lin   +4 more
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Intrathecal administration of nusinersen for spinal muscular atrophy: report of three cases with severe spinal deformity

JA Clinical Reports, 2020
Background Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy.
Sayo Nakao, Shinichi Yamada, Katsuya Tsuda, Taishi Yokomizo, Teruyuki Sato, Shuichi Tanoue, Teruyuki Hiraki   +6 more
doaj   +1 more source