Splice-switching therapy for spinal muscular atrophy.

Splice-switching therapy for spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a genetic disorder with severity ranging from premature death in infants to restricted motor function in adult life. Despite the genetic cause of this disease being known for over twenty years, only recently has a therapy been approved to treat the most severe form o...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Meijboom, K, Wood, M, McClorey, G
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	MDPI 2017

Antzeko izenburuak

Spinal muscular atrophy: disease mechanisms and therapeutic approaches
nork: Meijboom, K
Argitaratua: (2018)

Spinal muscular atrophy.
nork: Talbot, K, et al.
Argitaratua: (2001)

Spinal muscular atrophy at the crossroads of basic science and therapy
nork: Sleigh, J, et al.
Argitaratua: (2013)

Spinal muscular atrophy at the crossroads of basic science and therapy.
nork: Sleigh, J, et al.
Argitaratua: (2013)

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
nork: Hammond, S, et al.
Argitaratua: (2016)

Chapter 16 Spinal Muscular Atrophy
nork: Talbot, K, et al.
Argitaratua: (2003)

Modeling spinal muscular atrophy in Drosophila.
nork: Chang, H, et al.
Argitaratua: (2008)

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape
nork: Wood, M, et al.
Argitaratua: (2017)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
nork: Bowerman, M, et al.
Argitaratua: (2017)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
nork: Bowerman, M, et al.
Argitaratua: (2017)

From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
nork: Pennuto, M, et al.
Argitaratua: (2017)

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.
nork: Bäumer, D, et al.
Argitaratua: (2009)

Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice
nork: Walter, L, et al.
Argitaratua: (2018)

MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY
nork: Theodosiou, A, et al.
Argitaratua: (1995)

Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy
nork: Meijboom, KE, et al.
Argitaratua: (2021)

Infantile spinal muscular atrophy: Therapeutic (R)evolution
nork: Daron, A, et al.
Argitaratua: (2019)

Chapter 7 Spinal muscular atrophies and hereditary motor neuropathies.
nork: Talbot, K, et al.
Argitaratua: (2007)

Modelling of spinal muscular atrophy in D-melanogaster and C-elegans
nork: Davies, K
Argitaratua: (2004)

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy.
nork: Sleigh, J, et al.
Argitaratua: (2011)

The changing natural history of spinal muscular atrophy type 1.
nork: Oskoui, M, et al.
Argitaratua: (2007)

Design and application of bispecific splice-switching oligonucleotides.
nork: Bestas, B, et al.
Argitaratua: (2014)

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
nork: Mutsaers, C, et al.
Argitaratua: (2011)

High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
nork: Wijaya, Yogik Onky Silvana, et al.
Argitaratua: (2022)

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
nork: Lombardi, V, et al.
Argitaratua: (2019)

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
nork: Aragon-Gawinska, K, et al.
Argitaratua: (2019)

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
nork: Finkel, RS, et al.
Argitaratua: (2017)

Nusinersen versus sham control in later-onset spinal muscular atrophy
nork: Mercuri, E, et al.
Argitaratua: (2018)

New treatments in spinal muscular atrophy: an overview of currently available data
nork: Ramdas, S, et al.
Argitaratua: (2020)

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps
nork: Gidaro, T, et al.
Argitaratua: (2018)

Invertebrate models of spinal muscular atrophy: insights into mechanisms and potential therapeutics.
nork: Grice, S, et al.
Argitaratua: (2011)

Drugs, genes and screens: the ethics of preventing and treating spinal muscular atrophy
nork: Gyngell, C, et al.
Argitaratua: (2019)

Invertebrate models of spinal muscular atrophy: Insights into mechanisms and potential therapeutics
nork: Grice, S, et al.
Argitaratua: (2011)

Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling.
nork: Anderson, K, et al.
Argitaratua: (2003)

Evaluation of cell-penetrating peptide delivery of antisense oligonucleotides for therapeutic efficacy in spinal muscular atrophy
nork: Hammond, S, et al.
Argitaratua: (2019)

Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit.
nork: Anderson, K, et al.
Argitaratua: (2004)

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity
nork: Lim, WF, et al.
Argitaratua: (2021)

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
nork: Winkelsas, AM, et al.
Argitaratua: (2021)

Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy
nork: Gogliotti, R, et al.
Argitaratua: (2010)

Covalently attached intercalators restore duplex stability and splice-switching activity to triazole-modified oligonucleotides
nork: Dysko, A, et al.
Argitaratua: (2022)

Identification of novel genes involved in spinal muscular atrophy using high density microarrays
nork: Anderson, K, et al.
Argitaratua: (2002)