Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
about
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesisThe Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeA new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3Novel 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 heterogeneityAutosomal dominant familial spastic paraplegia: tight linkage to chromosome 15qAutosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneityMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisQuality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.Pure hereditary spastic paraplegia.Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Mitochondrial disorders. A diagnostic challenge in clinical chemistry.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 new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13The highly conserved defender against the death 1 (DAD1) gene maps to human chromosome 14q11-q12 and mouse chromosome 14 and has plant and nematode homologs.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.Genetic 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 paraplegiasGenome-Wide Analyses of Working-Memory Ability: A Review.Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous traitER network formation and membrane fusion by atlastin1/SPG3A disease variants.Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.Association of late onset spastic paraparesis and dementia: probably an autosomal dominant form of complicated paraplegia.Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.Autosomal dominant juvenile amyotrophic lateral sclerosis.Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
P2860
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P2860
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@ast
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@en
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@nl
type
label
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@ast
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@en
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@nl
prefLabel
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@ast
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@en
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@nl
P2093
P356
P1433
P1476
Autosomal dominant familial sp ...... e locus maps to chromosome 14q
@en
P2093
P2888
P356
10.1038/NG1093-163
P407
P577
1993-10-01T00:00:00Z