Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
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Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Systematic review of autosomal recessive ataxias and proposal for a classification.A comprehensive strategy for exome-based preconception carrier screening.Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
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Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 22 July 2015
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
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Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
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type
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Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
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Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
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prefLabel
Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
@en
Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
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Pathogenic CWF19L1 variants as ...... cerebellar ataxia and atrophy.
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Bart de Koning
Debby M E I Hellebrekers
Hubert J M Smeets
Irenaeus F M de Coo
Iris Boesten
Jo Vanoevelen
Mike Gerards
Minh Nguyen
Rick Kamps
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P2888
P304
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10.1038/EJHG.2015.158
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2015-07-22T00:00:00Z