Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
about
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologySpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsAxonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transportMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Mitochondrial Quality Control Proteases in Neuronal Welfare.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Functional evaluation of paraplegin mutations by a yeast complementation assay.Severe resting clonus caused by thyrotoxicosis in a 16-year-old girl with hereditary spastic paraparesis: a case report.Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.A founder mutation p.H701P identified as a major cause of SPG7 in Norway.Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
P2860
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P2860
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
description
2001 nî lūn-bûn
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2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Paraplegin gene analysis in he ...... edigrees in northeast England.
@ast
Paraplegin gene analysis in he ...... edigrees in northeast England.
@en
type
label
Paraplegin gene analysis in he ...... edigrees in northeast England.
@ast
Paraplegin gene analysis in he ...... edigrees in northeast England.
@en
prefLabel
Paraplegin gene analysis in he ...... edigrees in northeast England.
@ast
Paraplegin gene analysis in he ...... edigrees in northeast England.
@en
P2093
P356
P1433
P1476
Paraplegin gene analysis in he ...... edigrees in northeast England.
@en
P2093
C J McDermott
D M Turnbull
J C Lindsey
M A Johnson
M E Lusher
R K Dayaratne
P304
P356
10.1212/WNL.56.4.467
P407
P577
2001-02-01T00:00:00Z