Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
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 atrophyThe contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyA positive modifier of spinal muscular atrophy in the SMN2 geneDifferential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNPSMN1 dosage analysis in spinal muscular atrophy from India.Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSplicing therapy for neuromuscular diseaseSpinal Muscular AtrophyEarly heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN deliveryCarrier screening for spinal muscular atrophyPhase II open label study of valproic acid in spinal muscular atrophyChondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophyEvaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical studyNetwork biology concepts in complex disease comorbiditiesGenetically modified pig models for neurodegenerative disorders.Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon.Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and IIIInvertebrate models of spinal muscular atrophy: insights into mechanisms and potential therapeutics.SMN-inducing compounds for the treatment of spinal muscular atrophy.Permissibility of prenatal diagnosis and abortion for fetuses with severe genetic disorder: type 1 spinal muscular atrophyTetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy.Spinal muscular atrophy: diagnosis and management in a new therapeutic eraGenomic medicine and neurological disease.Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.Natural history of denervation in SMA: relation to age, SMN2 copy number, and functionGenetic Modifiers for Neuromuscular DiseasesImproving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates.Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US HutteritesThe Genetics of Spinal Muscular Atrophy: Progress and Challenges.Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophyModel systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents.Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.The Silent Sway of Splicing by Synonymous SubstitutionsCardiac involvement in patients with spinal muscular atrophies.New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.
P2860
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P2860
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
@en
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
@nl
type
label
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
@en
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
@nl
prefLabel
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
@en
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
@nl
P2093
P2860
P1433
P1476
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
@en
P2093
Audrey C Papp
Brunhilde Wirth
John W Heinz
Mary S Sedra
Matthew D Mailman
Pamela J Snyder
Thomas W Prior
P2860
P356
10.1097/00125817-200201000-00004
P407
P50
P577
2002-01-01T00:00:00Z
P5875
P6179
1001771934