SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
about
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosisExpanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patientsClinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).SPG11--the most common type of recessive spastic paraplegia in Norway?Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutationsNovel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism
P2860
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P2860
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
description
2007 nî lūn-bûn
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name
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@en
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@nl
type
label
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@en
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@nl
prefLabel
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@en
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@nl
P2093
P50
P1433
P1476
SPG11: a consistent clinical p ...... spatacsin truncating mutation.
@en
P2093
Antonella Costa
Federica Locatelli
Roberto Del Bo
Serena Ghezzi
P2860
P2888
P304
P356
10.1007/S10048-007-0095-Z
P577
2007-08-24T00:00:00Z