Results 51 to 60 of about 20,899 (290)

Review of Spinal Muscular Atrophy (SMA) in Brown Swiss Cattle [PDF]

Journal of Veterinary Diagnostic Investigation, 1993
Spinal muscular atrophy (SMA) is a heritable condition in Brown Swiss cattle characterized by profound muscular atrophy affecting appendicular muscles, particularly of the rear limb. Axial muscles are also affected. The affected ventral horn neurons are initially swollen and chromatolytic; this is followed by a shrunken appearance, necrosis, and ...
D, Troyer, W C, Cash, J, Vestweber, T, Hiraga, H W, Leipold   +4 more
openaire   +2 more sources

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models [PDF]

, 2015
Survival of motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the pathogenesis mechanisms remain elusive. Restoring SMN in motor neurons only partially rescues SMA in mouse models, although it is thought to be therapeutically ...
Bennett, C. F., Hua, Y., Krainer, A. R., Liu, Y. H., Rigo, F., Sahashi, K.   +5 more
core   +1 more source

Gram‐Scale Synthesis of Hafnium‐Rich Carbon Dots for Preclinical Computed Tomography Imaging Across Various Systems

Advanced Science, EarlyView.
Hafnium (Hf)‐rich carbon dots (Hf‐rCDs) with high metal content (40.7%) and robust batch production capacity (>2 g per batch) are synthesized via a facile air‐assisted pyrolysis method. In vivo CT imaging demonstrates outstanding performance of Hf‐rCDs across multiple physiological systems and enables high‐resolution visualization of swine cervical ...
Shuo Li, Hengrui Wu, Jianqi Deng, Qiyu Sun, Yuping Zhang, Cai Zhang, Jinbin Pan, Dingbin Liu, Xuejun Zhang, Quan Zou, Xiaoyuan Chen, Shao‐Kai Sun   +11 more
wiley   +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

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

Phosphatase and tensin homologue: a therapeutic target for SMA [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the most common juvenile neurodegenerative diseases, which can be associated with child mortality. SMA is caused by a mutation of ubiquitously expressed gene, Survival Motor Neuron1 (SMN1), leading to reduced SMN ...
AH Burghes, AK Bevan, AS Arnold, B Trulzsch, C Carissimi, C Simone, CJ DiDonato, CL Lorson, CR Heier, D Buhler, D Little, D Sareen, DJ Freeman, DJ Yang, E Hajduch, ER Hollis 2nd, G Battaglia, G Hamilton, H Liu, H Rindt, HL Zhang, HM Hsieh-Li, HR Fuller, I Tein, J Branchu, J Gu, J Pearn, J Peltier, J Ramser, J Yong, JC Chang, JH Chung, JH Pearn, JO Lee, JR Bach, JV McGivern, K Bilguvar, K Liu, K Ning, KD Foust, KK Park, L Cartegni, L Schnell, L Schnell, L Van Den Bosch, L Viollet, LC Trotman, M Azzouz, M Bowerman, M Bowerman, MB Lachyankar, MM Martin, N Roy, ND Mazarakis, NK Genabai, RA Powis, S Jablonka, S Lefebvre, S Lefebvre, S Majumder, S Rudnik-Schoneborn, S Shanmugarajan, S Zhang, T Baughan, TM Wishart, TW Prior, U Felderhoff-Mueser, UR Monani, V Stambolic, W Rossoll, Y Zhang, Y Zhu, ZY Cheng   +72 more
core   +1 more source

Combination of Serum Neurofilament Light Chain and Serum Cardiac Troponin T as Biomarkers Improves Diagnostic Accuracy in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective We aimed to evaluate the clinical utility of serum neurofilament light chain (sNfL) and cardiac troponin T (cTnT) in amyotrophic lateral sclerosis (ALS) and assess whether their combination improves diagnostic accuracy. Methods We retrospectively analyzed 293 ALS patients, 85 neurodegenerative disease controls, and 29 healthy controls.
Paula Lindenborn, Rachel Fabian, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Sarah Bernsen, Patrick Weydt   +6 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

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