Genetic and phenotypic characterization of complex hereditary spastic paraplegia
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Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement DisordersPIF* promotes brain re-myelination locally while regulating systemic inflammation- clinically relevant multiple sclerosis M.smegmatis modelTargeted high throughput sequencing in hereditary ataxia and spastic paraplegiaSevere axonal neuropathy is a late manifestation of SPG11.Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Expanded phenotype in a patient with spastic paraplegia 7.Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders.Hereditary spastic paraplegia from 1880 to 2017: an historical review.Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.Rare Neurodegenerative Diseases: Clinical and Genetic Update.Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
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P2860
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 23 May 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
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
@en
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
@nl
type
label
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
@en
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
@nl
prefLabel
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
@en
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
@nl
P2093
P2860
P50
P356
P1433
P1476
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
@en
P2093
Andrew B Singleton
Arianna Tucci
David S Lynch
Deborah Hughes
Elisavet Preza
Georgia Xiromerisiou
Henry Houlden
John Hardy
Kailash P Bhatia
L V Prasad Korlipara
P2860
P304
P356
10.1093/BRAIN/AWW111
P407
P50
P577
2016-05-23T00:00:00Z