Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
about
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studySMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophySMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophyDcpS as a therapeutic target for spinal muscular atrophy.A novel nuclear structure containing the survival of motor neurons proteinThe contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyA positive modifier of spinal muscular atrophy in the SMN2 geneThe RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) geneCopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSpinal muscular atrophy: development and implementation of potential treatmentsSplicing therapy for neuromuscular diseaseA large animal model of spinal muscular atrophy and correction of phenotype.Characterization of the RNA recognition mode of hnRNP G extends its role in SMN2 splicing regulationProlactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophyThe neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy modelsTrichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.Carrier screening for spinal muscular atrophyPhase II open label study of valproic acid in spinal muscular atrophyA role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophyCandidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical studyUtility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analysesNeuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanismFasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophySMN is required for sensory-motor circuit function in Drosophila.The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.Olesoxime (TRO19622): A Novel Mitochondrial-Targeted Neuroprotective Compound.Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy.Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy modelsInflammation in ALS and SMA: sorting out the good from the evil.Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann diseaseSpinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Proteomic assessment of a cell model of spinal muscular atrophyPrevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targetsTranscriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cellsTherapeutic developments in spinal muscular atrophy.A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Antisense oligonucleotides for the treatment of spinal muscular atrophy.
P2860
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P2860
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
description
1978 nî lūn-bûn
@nan
1978 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
name
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@ast
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@en
Incidence, prevalence, and gen ...... dhood spinal muscular atrophy.
@nl
type
label
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@ast
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@en
Incidence, prevalence, and gen ...... dhood spinal muscular atrophy.
@nl
prefLabel
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@ast
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@en
Incidence, prevalence, and gen ...... dhood spinal muscular atrophy.
@nl
P2860
P356
P1476
Incidence, prevalence, and gen ...... ldhood spinal muscular atrophy
@en
P2093
P2860
P304
P356
10.1136/JMG.15.6.409
P407
P577
1978-12-01T00:00:00Z