A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.
about
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism.Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description
P2860
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P2860
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
A clinical and genetic study o ...... hereditary spastic paraplegia.
@en
A clinical and genetic study o ...... hereditary spastic paraplegia.
@nl
type
label
A clinical and genetic study o ...... hereditary spastic paraplegia.
@en
A clinical and genetic study o ...... hereditary spastic paraplegia.
@nl
prefLabel
A clinical and genetic study o ...... hereditary spastic paraplegia.
@en
A clinical and genetic study o ...... hereditary spastic paraplegia.
@nl
P2093
P1433
P1476
A clinical and genetic study o ...... hereditary spastic paraplegia.
@en
P2093
Schapira AH
Wilkinson PA
P304
P356
10.1212/01.WNL.0000069920.42968.8D
P407
P577
2003-07-01T00:00:00Z