Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
about
Membrane-shaping disorders: a common pathway in axon degenerationWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyHomozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiencyMyoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportClinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysisHomozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
P2860
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P2860
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
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2014 nî lūn-bûn
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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2014 թվականի հունվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@ast
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@en
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@nl
type
label
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@ast
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@en
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@nl
prefLabel
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@ast
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@en
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@nl
P2093
P2860
P356
P1476
Evidence for autosomal recessi ...... a novel ATL1 missense mutation
@en
P2093
Muhammad Tariq
Naveed Altaf Malik
Niklas Dahl
Raja Yousaf
Shahid Mahmood Baig
Shehla Anjum Baig
Tahir Naeem Khan
P2860
P2888
P304
P356
10.1038/EJHG.2014.5
P50
P577
2014-01-29T00:00:00Z