Results 41 to 50 of about 608,413 (188)

The social-economic burden of spinal muscular atrophy in Russia

Фармакоэкономика, 2021
Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin, D. V. Vlodavets, A. A. Kurylev, Yu. Ye. Balykina, M. A. Proskurin, S. A. Mishinova, O. Yu. Germanenko, N. Yu. Kolbina   +7 more
doaj   +1 more source

Pharmacological management of spinal muscular atrophy

, 2023
Spinal muscular atrophy is an autosomal recessive inherited disease, which associate with SMN gene mutation. It presents with a wide range of symptoms from weakness, and fatigue of muscles to non-ambulatory, and death.
Le, Ngo Minh Tran
core  

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
core   +1 more source

A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy

, 2007
Objective: To determine whether oral creatine produces positive changes in any of 4 outcomes in children with spinal muscular atrophy (SMA). Methods: The authors conducted a randomized, double-blind, placebo-controlled trial on 55 patients aged 2-18 ...
Hynan, Linda S, Iannaccone, Susan T, Wong, Brenda L   +2 more
core   +1 more source

Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?

Frontiers in Neurology, 2021
Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of spinal muscular atrophy. In January 2020, the WHO declared COVID-19 a pandemic and nusinersen-provider centers had to postpone planned infusions for some children ...
Caterina Agosto, Eleonora Salamon, Luca Giacomelli, Simonetta Papa, Francesca Benedetti, Franca Benini   +5 more
doaj   +1 more source

The TUDOR domain of SMN is an H3K79 me1 histone mark reader

Life Science Alliance, 2023
The survival of motor neuron (SMN) protein is depleted in spinal muscular atrophy (SMA) pathology and herein defined as the first reader of histone H3 mono-methylated on lysine 79 through its central TUDOR domain.
Olivier Binda, Aimé Boris Kimenyi Ishimwe, Maxime Galloy, Karine Jacquet, Armelle Corpet, Amélie Fradet-Turcotte, Jocelyn Côté, Patrick Lomonte   +7 more
doaj   +1 more source

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj   +1 more source

Spinal Muscular Atrophy With Myoclonic Epilepsy

, 2017
Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Faik BUDAK, Buket ÖZKARA
core   +1 more source

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, Wan, Yu, Zhang, Jun, Yu Wan
core   +1 more source

Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol

Хирургия позвоночника, 2020
Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data. Material and Methods.
Sergey O. Ryabykh, Dmitry M. Savin, Egor Yu. Filatov, Svetlana N. Medvedeva, Anastasia N. Tretjakova, Dmitry A. Popkov, Tatyana V. Ryabykh, Elena N. Shchurova, Marat S. Saifutdinov   +8 more
doaj   +1 more source