Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.
about
Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardationHereditary spastic ataxia with congenital miosis: four cases in one family.Hereditary spastic paraparesis: a review of new developments.Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementiaHereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.Strumpell's pure familial spastic paraplegia: case study and review of the literature.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Spastic paraplegia 15: linkage and clinical description of three Tunisian families.Complicated hereditary spastic paraparesis with cerebral white matter lesions.Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.Hereditary spastic paraplegia from 1880 to 2017: an historical review.Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation.Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance.Myoclonus epilepsy and subacute presenile dementia in heredo-ataxia.Autosomal recessive paraparesis with amyotrophy of hands and feet and white matter lesions.
P2860
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P2860
Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.
description
1959 nî lūn-bûn
@nan
1959年の論文
@ja
1959年学术文章
@wuu
1959年学术文章
@zh
1959年学术文章
@zh-cn
1959年学术文章
@zh-hans
1959年学术文章
@zh-my
1959年学术文章
@zh-sg
1959年學術文章
@yue
1959年學術文章
@zh-hant
name
Familial spastic paraplegia wi ...... central retinal degeneration.
@en
Familial spastic paraplegia wi ...... central retinal degeneration.
@nl
type
label
Familial spastic paraplegia wi ...... central retinal degeneration.
@en
Familial spastic paraplegia wi ...... central retinal degeneration.
@nl
prefLabel
Familial spastic paraplegia wi ...... central retinal degeneration.
@en
Familial spastic paraplegia wi ...... central retinal degeneration.
@nl
P1433
P1476
Familial spastic paraplegia wi ...... central retinal degeneration.
@en
P2093
P304
P356
10.1001/ARCHNEUR.1959.03840020007002
P577
1959-08-01T00:00:00Z