Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Item
http://www.wikidata.org/entity/Q34327249
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.X-ray fluorescence imaging reveals subcellular biometal disturbances in a childhood neurodegenerative disorder.Radiological imaging in ataxia telangiectasia: a review.Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred populationICON: the early diagnosis of congenital immunodeficiencies.Reliability of phenotypic early-onset ataxia assessment: a pilot study.Prospective study of activities of daily living outcomes in children with cerebellar atrophy.Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).Cerebellum and neurodegenerative diseases: Beyond conventional magnetic resonance imaging.Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.
P2860

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Item
http://www.wikidata.org/entity/Q34327249
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Diagnostic approach to childho ...... pective study of 300 patients.
@ast
Diagnostic approach to childho ...... pective study of 300 patients.
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Diagnostic approach to childho ...... pective study of 300 patients.
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type
label
Diagnostic approach to childho ...... pective study of 300 patients.
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Diagnostic approach to childho ...... pective study of 300 patients.
@en
Diagnostic approach to childho ...... pective study of 300 patients.
@nl
prefLabel
Diagnostic approach to childho ...... pective study of 300 patients.
@ast
Diagnostic approach to childho ...... pective study of 300 patients.
@en
Diagnostic approach to childho ...... pective study of 300 patients.
@nl
P1433
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Diagnostic approach to childho ...... pective study of 300 patients.
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P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P932