Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
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Spinal muscular atrophySurvival motor neuron protein regulates stem cell division, proliferation, and differentiation in DrosophilaGemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gemsGemin4. A novel component of the SMN complex that is found in both gems and nucleoliDrug 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 IIIIdentification of a candidate modifying gene for spinal muscular atrophy by comparative genomicsMapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy geneHeterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissuesDifferential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNPApparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann diseaseCopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSpinal muscular atrophy: from gene discovery to clinical trialsApplicability of histone deacetylase inhibition for the treatment of spinal muscular atrophyMolecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)Splicing therapy for neuromuscular diseaseBone health and associated metabolic complications in neuromuscular diseasesComplex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brainProlactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanismReaders of histone methylarginine marks.Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpainCarrell-Krusen Symposium invited lecture. Clinical trials in motor neuron diseases.Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.Prenatal prediction of spinal muscular atrophy.Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.Lethal congenital contracture syndrome: further delineation and genetic aspectsLethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
P2860
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P2860
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
description
1990 nî lūn-bûn
@nan
1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@ast
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@en
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@nl
type
label
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@ast
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@en
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@nl
prefLabel
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@ast
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@en
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@nl
P2093
P3181
P356
P1433
P1476
Genetic mapping of chronic chi ...... ophy to chromosome 5q11.2-13.3
@en
P2093
G K Penchaszadeh
K C Wilhelmsen
K E Davies
L H Castilla
L M Brzustowicz
P2888
P3181
P356
10.1038/344540A0
P407
P577
1990-04-05T00:00:00Z
P6179
1032780478