Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
about
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaHuman CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseasePontocerebellar hypoplasia.Natural course of pontocerebellar hypoplasia type 2A.Genetic variants related to height and risk of atrial fibrillation: the cardiovascular health studyTSEN54 mutations cause pontocerebellar hypoplasia type 5Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformationGenes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Identification of Alternative Variants and Insertion of the Novel Polymorphic AluYl17 in TSEN54 Gene during Primate Evolution.Hereditary ataxias: overview.Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
P2860
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P2860
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@ast
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@en
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@nl
type
label
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@ast
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@en
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@nl
prefLabel
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@ast
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@en
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@nl
P2093
P50
P1433
P1476
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
@en
P2093
A M Laverda
A Simonati
D Cassandrini
F M Santorelli
M Di Capua
M Di Rocco
P304
P356
10.1212/WNL.0B013E3181F88173
P407
P577
2010-10-01T00:00:00Z