Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
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Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genesSpastic paraplegia associated with brachydactyly and cone shaped epiphysesThe 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 16q24.3A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityInfantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneAutosomal 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 heterogeneityQuality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.Spastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.Central motor conduction studies in hereditary spastic paraplegiaHereditary "pure" spastic paraplegia: a study of nine families.Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy.Familial spastic paraplegia with Kallmann's syndrome.Peroneal muscular atrophy with pyramidal featuresManifesting heterozygosity in sex-linked spastic paraplegia?Cerebellar degeneration in dominantly inherited spastic paraplegia.Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorderPure hereditary spastic paraplegia.Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?Sensory neuropathy in hereditary spastic paraplegia.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 novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.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 19q13Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Etiological heterogeneity in X-linked spastic paraplegia.The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum?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-p24Familial cerebral palsy associated with normal intelligence.Magnetic resonance imaging in degenerative ataxic disordersGenetic and phenotypic characterization of complex hereditary spastic paraplegiaHealth survey of adults with hereditary spastic paraparesis compared to population study controls.Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
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Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 1981
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@en
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@nl
type
label
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@en
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@nl
prefLabel
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@en
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@nl
P2860
P356
P1476
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
@en
P2093
Harding AE
P2860
P304
P356
10.1136/JNNP.44.10.871
P407
P577
1981-10-01T00:00:00Z