Results 41 to 50 of about 888,799 (202)

Pyramidal signs in a Caucasian patient with spinal muscular atrophy: a case report [PDF]

, 2016
Spinal muscular atrophy (SMA), an autosomal recessive disease, is characterized by the selective loss of spinal motor neurons due to reduced levels of the survival motor neuron (SMN) protein.
Jun Zhang, Yu Wan
core   +1 more source

Advances in Sustainable and Wearable Textile Based Soft Robotics

Advanced Functional Materials, EarlyView.
This Review examines advances in wearable textile‐based soft robotics, focusing on sustainable materials, integrated sensing, and scalable actuation. It discusses manufacturing and system integration across healthcare, assistive robotics, prosthetics, and human–machine interfaces, and highlights key challenges in circular design, including life‐cycle ...
Zahir Abbas, Marzia Dulal, Sophia K. Novoselov, Victoria K. Novoselov, Kostya S. Novoselov, Shaila Afroj, Nazmul Karim   +6 more
wiley   +1 more source

Carrier screening for spinal muscular atrophy in Italian population [PDF]

, 2014
Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder characterized by motor neuron degeneration in the anterior horn of the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy.....
Vitello,GA, Scuderi,C, Ragalmuto,A, Musumeci,S, Bianca,S, Barone,C, Ruggeri,G, Chiavetta,V, Calì,F, Schinocca,P, ROMANO, Valentino   +10 more
core   +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

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

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

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

Versatile Microgel Platform for Intervertebral Disc Degeneration Therapy: Targeting Pericyte‐Mediated Fibrosis and Protecting Nucleus Pulposus Cells

Advanced Science, EarlyView.
The engineered MMS@TRP microgel enables targeted, acid‐responsive delivery of a miR‐21 inhibitor to pericytes. It effectively suppresses disc fibrosis by inhibiting TGF‐β signaling while protecting nucleus pulposus cells via sustained, antioxidant tannic acid release.
Fei Ma, Zhen Zhao, Chuan Guo, Yuheng Liu, Yu Wang, Dengbo Yao, Weiqiang Lan, Dejun Zhong, Chen Fan, Yao He, Mei Zhang, Qingquan Kong, Yunfeng Lin   +12 more
wiley   +1 more source

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol [PDF]

Einstein (São Paulo)
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor ...
Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca   +7 more
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