A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
about
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationLoss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegiaNovel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8qA new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisHomozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationCell biology. Metabolic control of cell deathSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Oxidative phosphorylation disease diagnosis.A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.Hereditary spastic paraparesis: a review of new developments.A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.The neuro-ophthalmology of mitochondrial diseaseGenetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasGenetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsSpastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Commentary: SPG7 is an essential and conserved component of the mitochondrial permeability transition poreAutopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.In Silico Investigation of Traditional Chinese Medicine for Potential Lead Compounds as SPG7 Inhibitors against Coronary Artery Disease.Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome.Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.Atypical dementia and spastic paraplegia in a patient with primary lateral sclerosis and numerous necortical beta amyloid plaques: new disorder or Alzheimer's disease variant?
P2860
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P2860
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@ast
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@en
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@nl
type
label
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@ast
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@en
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@nl
prefLabel
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@ast
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@en
A new locus for autosomal rece ...... gia maps to chromosome 16q24.3
@nl
P2093
P2860
P50
P3181
P356
P1476
A new locus for autosomal rece ...... ia maps to chromosome 16q24.3.
@en
P2093
A Monticelli
G De Michele
M De Fusco
P2860
P304
P3181
P356
10.1086/301930
P407
P577
1998-07-01T00:00:00Z