Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
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NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
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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 19 March 2016
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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
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
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type
label
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
@en
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
@nl
prefLabel
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
@en
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.
@nl
P2093
P2860
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P1476
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
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Henry Houlden
Joshua Hersheson
Noshir Wadia
Reema Paudel
Sarah Wiethoff
Yo-Tsen Liu
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P2888
P304
P356
10.1007/S12311-016-0769-X
P577
2017-02-01T00:00:00Z