Új vizsgálatok, publikációk, preprintek és pályázatok ezen a célponton, hónapról hónapra.
Vizsgálat
SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
2027. jan. 1.· EARLY_PHASE1 · NOT_YET_RECRUITING· CTGOV
Publikáció
An SMN2 splicing-correcting antisense oligonucleotide promotes gene looping and transcription activation.
2026. nov. 3.· Molecular cell· PUBMED
Publikáció
Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin® and the Reference Drug Evrysdi®.
2026. szept. 4.· Biomedicines· PUBMED
Publikáció
A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy.
2026. aug. 31.· Methods and protocols· PUBMED
Publikáció
Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control.
2026. aug. 31.· International journal of neonatal screening· PUBMED
Publikáció
Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.
2026. aug. 22.· Clinica chimica acta; international journal of clinical chemistry· PUBMED
Publikáció
Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.
2026. aug. 10.· European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· PUBMED
Publikáció
Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.
2026. júl. 30.· Frontiers in neurology· PUBMED
Publikáció
Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry.
2026. júl. 21.· The Journal of molecular diagnostics : JMD· PUBMED
Publikáció
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.
2026. júl. 2.· European journal of human genetics : EJHG· PUBMED
Publikáció
Correction: Lamadrid-González et al. SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients. J. Clin. Med. 2024, 13, 6402.
2026. jún. 29.· Journal of clinical medicine· PUBMED
Publikáció
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.
2026. jún. 6.· BMC medical genomics· PUBMED
Publikáció
Detection and characterization of SMN1 deletions in type IV spinal muscular atrophy using long-read whole-genome sequencing.
2026. máj. 12.· Clinica chimica acta; international journal of clinical chemistry· PUBMED
Publikáció
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.
2026. máj. 7.· EClinicalMedicine· PUBMED
Publikáció
Beyond SMN1 mutation: environmental predispositions and epigenetic contributors to phenotypic variability and disease severity in spinal muscular atrophy.
2026. máj. 7.· Neuroscience· PUBMED
Publikáció
Combining SMN2 splicing modifiers with HDAC6 inhibition improves spinal muscular atrophy outcomes.
2026. máj. 2.· Brain : a journal of neurology· PUBMED
Publikáció
Risdiplam Add-On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi-Center Case Series.
2026. ápr. 11.· Muscle & nerve· PUBMED
Publikáció
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.
2026. ápr. 7.· Journal of human genetics· PUBMED
Preprint
Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology.
2026. márc. 27.· bioRxiv : the preprint server for biology· PUBMED
Publikáció
Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.
2026. márc. 3.· Molecular therapy : the journal of the American Society of Gene Therapy· PUBMED
Publikáció
Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye.
2026. febr. 27.· Muscle & nerve· PUBMED
Publikáció
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity.
2026. febr. 22.· Molecular genetics and metabolism reports· PUBMED
Publikáció
Digital droplet PCR for detection of SMN1 deletion in low-concentration fragmented cell-free DNA: a proof of concept study.
2026. febr. 19.· Scandinavian journal of clinical and laboratory investigation· PUBMED
Publikáció
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.
2026. febr. 12.· American journal of human genetics· PUBMED
Publikáció
Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies.
2026. febr. 12.· Genetics in medicine : official journal of the American College of Medical Genetics· PUBMED
Publikáció
Comparative Characterization of a Proposed Generic Nusinersen: Identity of the Oligonucleotide Structure and Equivalence in SMN2 Splicing Activity.
2026. jan. 29.· Pharmaceutics· PUBMED
Publikáció
A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review.
2026. jan. 22.· BMC neurology· PUBMED
Publikáció
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.
2026. jan. 16.· Journal of neuromuscular diseases· PUBMED
Publikáció
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
2025. dec. 15.· EMBO molecular medicine· PUBMED
Publikáció
Integrative analysis of transcriptomics and drug-target networks identifies SMN1 as a novel biomarker and therapeutic target for amyotrophic lateral sclerosis.
2025. dec. 4.· Journal, genetic engineering & biotechnology· PUBMED