Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

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Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

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Reply: Complicated hereditary ...... 2 mutations: what's in a name?

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Reply: Complicated hereditary ...... 2 mutations: what's in a name?

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Reply: Complicated hereditary ...... 2 mutations: what's in a name?

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Reply: Complicated hereditary ...... 2 mutations: what's in a name?

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Reply: Complicated hereditary ...... 2 mutations: what's in a name?

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Neuropathy target esterase gene mutations cause motor neuron disease

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

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e74

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scholarly article

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10.1093/BRAIN/AWX282

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English

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140

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Rebecca Schüle

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2017-11-03T00:00:00Z

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29112700

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5841037

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