Results 81 to 90 of about 641,821 (189)

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

Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology

Neural Regeneration Research
Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor.
Yiyang Qin, Wenzhen Zhu, Tingting Guo, Yiran Zhang, Tingting Xing, Peng Yin, Shihua Li, Xiao-Jiang Li, Su Yang   +8 more
doaj   +1 more source

Cost-Effectiveness of Technologies for the Treatment of Spinal Muscular Atrophy: A Systematic Review of Economic Studies

Objectives This study aims to systematically collect data on cost-effectiveness analyses that assess technologies to treat type I and II spinal muscular atrophy and evaluate their recommendations.
Carvalho, Lélia, Motta-Santos, André, Reis, Carla, Freitas, Daniela, Noronha, Kenya, Andrade, Mônica   +5 more
core   +1 more source

Congenital arthrogryposis secondary to spinal muscular atrophy: a case report

Revista de Ciencias Médicas de Pinar del Río, 2018
Introduction: spinal muscular atrophy consists of a degeneration of the anterior antlers of the spinal cord from hereditary causes with Mendelian autosomal recessive pattern leading to progressive muscle weakness of very bad prognosis.
Hernán Pereda Chávez, Ledys Mabel Fernández Hernández, Yesenia Pérez Expósito   +2 more
doaj  

Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada. [PDF]

Neurol Genet
McMillan HJ, Osman H, Kernohan K, Lacaria M, Hume SL, Muranyi A, Sinclair G, Selby KA, Giguère Y, Antonishyn NA, Van Caeseele P, Evans C, Liu Z, Oskoui M.   +13 more
europepmc   +1 more source

Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy. [PDF]

Mol Genet Genomic Med
Wei H, Zheng YW, Zhang NK, Gao TL, Zheng JX, Li TY, Hong SR.   +6 more
europepmc   +1 more source

Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital

Annals, Academy of Medicine, Singapore
Shreya S Shetty, Janaki Abirami Palaniappan, Wei Cheng David Kuek, Dan Thu Van, Jia Ming Low, Furene Wang, Benedict Yan, Stacey KH Tay, Hui-Lin Chin   +8 more
doaj   +1 more source

Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances. [PDF]

Ther Adv Neurol Disord
René CA, Parks RJ.
europepmc   +1 more source

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series. [PDF]

Ann Med
Guo X, Luo Y, Li M, Li C, Chang Z, Zhu S, Wang Q, Huang Y.   +7 more
europepmc   +1 more source

Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy. [PDF]

J Neuromuscul Dis
Kumhera M, Vrsčaj E, Loboda T, Osredkar D, Holotová P, Rohlenová M, Lauerová B, Jurášová V, Hanzalová J, Pavlíková M, Haberlová J.   +10 more
europepmc   +1 more source