about
SMA 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 atrophyGemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gemsDcpS as a therapeutic target for spinal muscular atrophy.A novel nuclear structure containing the survival of motor neurons proteinA SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceSpinal muscular atrophy: development and implementation of potential treatmentsSkeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA)Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN deliveryPhase II open label study of valproic acid in spinal muscular atrophySelective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense OligonucleotidesNeural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN.Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin.The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East EnglandGenetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence.A hungarian study on Werdnig-Hoffmann disease.Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India.Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not lateSpecific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron geneA short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophyTemporal requirement for high SMN expression in SMA miceA single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouseGenetic counselling: a tool for the prevention of some abnormal pregnancies.The need for a national policy for the management of inherited metabolic disease.Antisense oligonucleotides for the treatment of spinal muscular atrophy.A family study of Fallot's tetralogy.Individuals at risk in families with genetic disease.Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophySpinal muscular atrophy: recent advances and future prospects.Spinal muscular atrophy: diagnosis and management in a new therapeutic eraNatural history of denervation in SMA: relation to age, SMN2 copy number, and functionImproving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates.Discovery, synthesis, and biological evaluation of novel SMN protein modulators.Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene.The incidence of genetic disease in a University hospital populationPlastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse
P2860
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P2860
description
1970 nî lūn-bûn
@nan
1970年の論文
@ja
1970年論文
@yue
1970年論文
@zh-hant
1970年論文
@zh-hk
1970年論文
@zh-mo
1970年論文
@zh-tw
1970年论文
@wuu
1970年论文
@zh
1970年论文
@zh-cn
name
The genetic component in child mortality.
@en
The genetic component in child mortality.
@nl
type
label
The genetic component in child mortality.
@en
The genetic component in child mortality.
@nl
prefLabel
The genetic component in child mortality.
@en
The genetic component in child mortality.
@nl
P2093
P356
P1476
The genetic component in child mortality.
@en
P2093
P356
10.1136/ADC.45.239.33
P407
P577
1970-02-01T00:00:00Z