Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
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 subtypeIdentification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsNIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).A 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 heterogeneityIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisPrader-Willi and Angelman syndromes: sister imprinted disordersA Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severityNIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporterQuality 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.Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome.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 19q13EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.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.Sleep and breathing in Prader-Willi syndrome.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasHereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous traitPrader-Willi syndrome: A primer for clinicians.Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutationAutosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24Prader-Willi syndrome: an update and review for the primary pediatrician.Prader-Willi Syndrome: A spectrum of anatomical and clinical features.A family with hereditary spastic paraparesis and epilepsy.Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome.Sleep and behaviour disturbance in Prader-Willi syndrome: a questionnaire study.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: tight linkage to chromosome 15q
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@ast
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@en
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@nl
type
label
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@ast
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@en
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@nl
prefLabel
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@ast
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@en
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@nl
P2093
P2860
P356
P1476
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
@en
P2093
T Reinglass
P2860
P304
P356
10.1002/AJMG.1320560215
P407
P577
1995-01-01T00:00:00Z