Results 31 to 40 of about 1,670 (170)

Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies

Arquivos de Neuro-Psiquiatria
Background Spinal muscular atrophy (SMA-5q) is a neurodegenerative disease characterized by progressive muscle atrophy, hypotonia, and weakness, with SMA 1 presenting symptoms within the first 6 months of life. Disease-modifying therapies have
Brenda Klemm Arci Mattos de Freitas Alves, Alexandra Prufer de Queiroz Campos Araujo, Flávia Nardes dos Santos, Márcia Gonçalves Ribeiro   +3 more
doaj   +1 more source

Rehabilitation in spinal muscular atrophy

The Journal of the International Society of Physical and Rehabilitation Medicine, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead, Wendy Wai Yeng Yeo, Thirupathirao Vishnumukkala, Michael Larvin   +3 more
doaj   +1 more source

ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons

Cell Death Discovery, 2023
Spinal Muscular Atrophy (SMA) is a severe genetic neuromuscular disorder that occurs in childhood and is caused by misexpression of the survival motor neuron (SMN) protein.
Alba Sansa, Maria P. Miralles, Maria Beltran, Ferran Celma-Nos, Jordi Calderó, Ana Garcera, Rosa M. Soler   +6 more
doaj   +1 more source

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy

Neuroscience Insights, 2020
Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 ( SMN1 ) gene, while less than 5% of cases are attributed to genes other than SMN . Mutations in LMNA , the lamin A/C encoding gene, cause an adult form
Darija Šoltić, Heidi R Fuller
doaj   +1 more source

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2021
Background 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes.
Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun, Andreas Ziegler   +19 more
doaj   +1 more source

Wearable Bioelectronics for Home‐Based Monitoring and Treatment of Muscle Atrophy

Advanced Science, EarlyView.
As an inevitable disease, muscle atrophy has received more attention. Because the factors that induce this disease are diverse, achieving a complete cure is still impossible. Wearable bioelectronics provides a more comfortable, low‐cost, and efficient way of home care for the monitoring and treatment of muscle atrophy. Therefore, this review summarizes
Shuai Zhang, Renjie Tan, Shuo Meng, Ke Zhang, Jinlian Hu   +4 more
wiley   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report

BMC Anesthesiology
Background Spinal Muscular Atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by degeneration of motor neurons in the spinal cord, resulting in progressive limb muscle weakness, atrophy, and severe scoliosis.
Zhuangyuan Chen, Xiaowei Chen, Xiyun Liang, Qiang Niu, Yauwai Chan, Xuebing Xu   +5 more
doaj   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

A Wearable Soft Actuator for Directional Tactile Stimulation: Design and Testing

Advanced Intelligent Systems, EarlyView.
A wearable actuator able to produce directional tactile stimulation is obtained by embedding a planar shape memory spring in silicone matrix. The matrix is designed taking into account skin characteristics and leveraging its multifunctionality: it acts as a bias load, improves the thermal behavior of the spring and wearability.
Fabio Lazzari, Jacopo Romanò, Davide Faranna, Lorenzo Garavaglia, Francesco Volontè, Carlo Fanciulli, Simone Pittaccio   +6 more
wiley   +1 more source