Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.
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Drug treatment for spinal muscular atrophy types II and IIIDrug treatment for spinal muscular atrophy type IDrug treatment for spinal muscular atrophy types II and IIIDrug treatment for spinal muscular atrophy type IDrug treatment for spinal muscular atrophy type IDrug treatment for spinal muscular atrophy types II and IIIDrug treatment for spinal muscular atrophy types II and IIIDrug treatment for spinal muscular atrophy type IClinical and experimental applications of sodium phenylbutyrateA positive modifier of spinal muscular atrophy in the SMN2 geneSurvival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibitionSpinal muscular atrophy: development and implementation of potential treatmentsSpinal Muscular AtrophyExclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophyPan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimensValidation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and IIIClinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseasesCollaboration for rare disease drug discovery researchSMN in spinal muscular atrophy and snRNP biogenesisRasch analysis of clinical outcome measures in spinal muscular atrophy.Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpainGenetically modified pig models for neurodegenerative disorders.Emerging therapies and challenges in spinal muscular atrophySpinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy.Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophySplicing of the Survival Motor Neuron genes and implications for treatment of SMAAssays for the identification and prioritization of drug candidates for spinal muscular atrophyObservational study of spinal muscular atrophy type I and implications for clinical trials.Therapeutic developments in spinal muscular atrophy.New therapeutic approaches to spinal muscular atrophy.Compound muscle action potential and motor function in children with spinal muscular atrophy.Electrical impedance myography in spinal muscular atrophy: a longitudinal study.SMN-inducing compounds for the treatment of spinal muscular atrophy.Antisense oligonucleotides for the treatment of spinal muscular atrophy.Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
P2860
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P2860
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Natural history in proximal sp ...... n of existing classifications.
@en
type
label
Natural history in proximal sp ...... n of existing classifications.
@en
prefLabel
Natural history in proximal sp ...... n of existing classifications.
@en
P1433
P1476
Natural history in proximal sp ...... n of existing classifications.
@en
P2093
Rudnik-Schöneborn S
P304
P356
10.1001/ARCHNEUR.1995.00540290108025
P577
1995-05-01T00:00:00Z