Results 181 to 190 of about 888,799 (202)

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study. [PDF]

J Patient Rep Outcomes
de Lemus M, Cattinari MG, Pascual SI, Medina J, García M, Magallón A, Dumont M, Rebollo P.   +7 more
europepmc   +1 more source

A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models

, 2023
Hoolachan JM, McCallion E, Sutton ER, Çetin Ö, Pacheco-Torres P, Dimitriadi M, Okoh M, Walter LM, Claus P, Wood MJ, Tonge DP, Bowerman M.   +11 more
europepmc   +1 more source

A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA). [PDF]

J Neuromuscul Dis
Martí Y, Aponte Ribero V, Batson S, Mitchell S, Gorni K, Gusset N, Oskoui M, Servais L, Deconinck N, McGrattan KE, Mercuri E, Sutherland CS.   +11 more
europepmc   +1 more source

Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers. [PDF]

Neurol Ther
Bar-Chama N, Elsheikh B, Hewamadduma C, Guittari CJ, Gorni K, Mueller L.   +5 more
europepmc   +1 more source

Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey. [PDF]

Neurol Ther
Curry MA, Cruz RE, Belter LT, Schroth MK, Jarecki J.   +4 more
europepmc   +1 more source

Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol. [PDF]

Neurol Ther
Rebollo P, García-López S, Povedano M, Cattinari MG, Martínez-Moreno M, Terrancle Á, Cabello-Moruno R, Vázquez-Costa JF.   +7 more
europepmc   +1 more source

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort. [PDF]

J Neuromuscul Dis, 2020
Jones CC, Cook SF, Jarecki J, Belter L, Reyna SP, Staropoli J, Farwell W, Hobby K.   +7 more
europepmc   +1 more source

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs. [PDF]

Front Neurol, 2020
Hensel N, Kubinski S, Claus P.
europepmc   +1 more source

Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. [PDF]

Sci Rep, 2020
Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P.   +5 more
europepmc   +1 more source

A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models. [PDF]

Hum Mol Genet
Hoolachan JM, McCallion E, Sutton ER, Çetin Ö, Pacheco-Torres P, Dimitriadi M, Sari S, Miller GJ, Okoh M, Walter LM, Claus P, Wood MJA, Tonge DP, Bowerman M.   +13 more
europepmc   +1 more source