%D8%B6%D9%85%D9%88%D8%B1_%D8%A7%D9%84%D8%B9%D8%B6%D9%84%D8%A7%D8%AA_%D8%A7%D9%84%D8%B4%D9%88%D9%83%D9%8AAtr%C3%B2fia_muscular_espinalSpin%C3%A1ln%C3%AD_svalov%C3%A1_atrofieSpinal_muskul%C3%A6r_atrofiSpinale_Muskelatrophie%CE%9D%CF%89%CF%84%CE%B9%CE%B1%CE%AF%CE%B1_%CE%BC%CF%85%CF%8A%CE%BA%CE%AE_%CE%B1%CF%84%CF%81%CE%BF%CF%86%CE%AF%CE%B1Spinal_muscular_atrophyAtrofia_muscular_espinal%D8%A2%D8%AA%D8%B1%D9%88%D9%81%DB%8C_%D8%B9%D8%B6%D9%84%D8%A7%D9%86%DB%8C_%D9%86%D8%AE%D8%A7%D8%B9%DB%8CSpinaaliset_lihasatrofiatAmyotrophie_spinaleAtrofia_muscular_espi%C3%B1alSpin%C3%A1lis_izomatr%C3%B3fiaAtrofia_muscolare_spinale%E8%84%8A%E9%AB%84%E6%80%A7%E7%AD%8B%E8%90%8E%E7%B8%AE%E7%97%87%EC%B2%99%EC%88%98%EC%84%B1_%EA%B7%BC%EC%9C%84%EC%B6%95%EC%A6%9D%D0%A1%D0%BF%D0%B8%D0%BD%D0%B0%D0%BB%D0%BD%D0%B0_%D0%BC%D1%83%D1%81%D0%BA%D1%83%D0%BB%D0%BD%D0%B0_%D0%B0%D1%82%D1%80%D0%BE%D1%84%D0%B8%D1%98%D0%B0Spinale_musculaire_atrofieRdzeniowy_zanik_mi%C4%99%C5%9BniAtrofia_muscular_espinhal%D0%A1%D0%BF%D0%B8%D0%BD%D0%B0%D0%BB%D1%8C%D0%BD%D0%B0%D1%8F_%D0%BC%D1%8B%D1%88%D0%B5%D1%87%D0%BD%D0%B0%D1%8F_%D0%B0%D1%82%D1%80%D0%BE%D1%84%D0%B8%D1%8FSpinal_muscular_atrophySpinalna_mi%C5%A1i%C4%8Dna_atrofijaSpinal_muskelatrofi%E0%B9%82%E0%B8%A3%E0%B8%84%E0%B8%81%E0%B8%A5%E0%B9%89%E0%B8%B2%E0%B8%A1%E0%B9%80%E0%B8%99%E0%B8%B7%E0%B9%89%E0%B8%AD%E0%B8%9D%E0%B9%88%E0%B8%AD%E0%B8%88%E0%B8%B2%E0%B8%81%E0%B9%84%E0%B8%82%E0%B8%AA%E0%B8%B1%E0%B8%99%E0%B8%AB%E0%B8%A5%E0%B8%B1%E0%B8%87%D0%A1%D0%BF%D1%96%D0%BD%D0%B0%D0%BB%D1%8C%D0%BD%D0%B0_%D0%BC%27%D1%8F%D0%B7%D0%BE%D0%B2%D0%B0_%D0%B0%D1%82%D1%80%D0%BE%D1%84%D1%96%D1%8FQ580290%E8%84%8A%E9%AB%93%E6%80%A7%E8%82%8C%E8%82%89%E8%90%8E%E7%B8%AE%E7%97%87
about
sameAs
P2175
autosomal recessive distal spinal muscular atrophy 2Kennedy diseaseanterior horn cell diseasesurvival motor neuron spinal muscular atrophyautosomal recessive distal spinal muscular atrophy 1spinal muscular atrophy, Ryukyuan typescapuloperoneal spinal muscular atrophybulbospinal muscular atrophyproximal spinal muscular atrophySpinal muscular atrophy with lower extremity predominance
P279
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyAlternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophySpinal muscular atrophySMA 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 atrophyModeling spinal muscular atrophy in DrosophilaA novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicingGemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gemsSkeletal muscle training for spinal muscular atrophy type 3Drug 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 ISpinal muscular atrophy disrupts the interaction of ZPR1 with the SMN proteinThe splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophyA mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy proteinCrystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophyThe gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophyIdentification of a candidate modifying gene for spinal muscular atrophy by comparative genomicsThe spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteinsMapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13DcpS as a therapeutic target for spinal muscular atrophy.Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceGlycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuronIntragenic 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 geneCoilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy proteinThe contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyRare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophyA positive modifier of spinal muscular atrophy in the SMN2 geneDelivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy.Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibitionApparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
P921
description
autosomal rezessiv vererbte Krankheit
@de
enfermedad
@es
groupe de maladies héréditaires
@fr
malattia che colpisce le cellu ...... tori (detti anche motoneuroni)
@it
rare congenital neuromuscular disorder
@en
rare congenital neuromuscular disorder
@en-gb
rzadka choroba nerwowo-mięśniowa o podłożu genetycznym
@pl
vrozená vada nervové soustavy
@cs
σχετικά σπάνια γενετική νευρομυική διαταραχή
@el
Поражение спинного мозга, приводящее к атрофии многих мышц
@ru
name
Spinaaliset lihasatrofiat
@fi
Spinalna mišična atrofija
@sl
amiotrofia muscular espinhal
@pt
amyotrophie spinale
@fr
atrofia muscolare spinale
@it
atrofia muscular espinal
@es
atrofia muscular espiñal
@gl
atròfia muscular espinal
@ca
cпінальна м'язова атрофія
@uk
rdzeniowy zanik mięśni
@pl
type
label
Spinaaliset lihasatrofiat
@fi
Spinalna mišična atrofija
@sl
amiotrofia muscular espinhal
@pt
amyotrophie spinale
@fr
atrofia muscolare spinale
@it
atrofia muscular espinal
@es
atrofia muscular espiñal
@gl
atròfia muscular espinal
@ca
cпінальна м'язова атрофія
@uk
rdzeniowy zanik mięśni
@pl
altLabel
CMA
@ru
SMA
@el
SMA
@tr
SMA-taudit
@fi
SMA-tauti
@fi
Spinaalinen lihasatrofia
@fi
Spinal muscular atrophy
@en
amiotrofia spinale
@it
amyotrophies spinales infantiles
@fr
enfermedad de la neurona motora infantil
@es
prefLabel
Spinaaliset lihasatrofiat
@fi
Spinalna mišična atrofija
@sl
amiotrofia muscular espinhal
@pt
amyotrophie spinale
@fr
atrofia muscolare spinale
@it
atrofia muscular espinal
@es
atrofia muscular espiñal
@gl
atròfia muscular espinal
@ca
cпінальна м'язова атрофія
@uk
rdzeniowy zanik mięśni
@pl
P557
P508
P6366
P1325
P1461
spinal-muscular-atrophy-pro
P1748
P1995
P2176
P2888
P2892
P3417
Spinal-Muscular-Atrophy
P373
Spinal muscular atrophy
P3827
spinal-muscular-atrophy