Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Item
http://www.wikidata.org/entity/Q48090291
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegiaSPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosisHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.APOE status modulates the changes in network connectivity induced by brain stimulation in non-demented elders.GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient iPSC model.Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia.Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.MR imaging findings in autosomal recessive hereditary spastic paraplegia.Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter.Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism
P2860

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Item
http://www.wikidata.org/entity/Q48090291
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Clinical progression and genet ...... spastic gait gene 11 (SPG11).
@en
Clinical progression and genet ...... llosum in spastic gait gene 11
@nl
type
label
Clinical progression and genet ...... spastic gait gene 11 (SPG11).
@en
Clinical progression and genet ...... llosum in spastic gait gene 11
@nl
prefLabel
Clinical progression and genet ...... spastic gait gene 11 (SPG11).
@en
Clinical progression and genet ...... llosum in spastic gait gene 11
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Clinical progression and genet ...... spastic gait gene 11 (SPG11).
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698