Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
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Peripheral Neuropathy and Celiac DiseaseNovel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishLong-term course and mutational spectrum of spatacsin-linked spastic paraplegia.A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices.SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.Hereditary spastic paraplegia with a thin corpus callosum.Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI.Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.MR imaging findings in autosomal recessive hereditary spastic paraplegia.Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.Polyneuropathy with Impaired Glucose Tolerance: Implications for Diagnosis and Therapy.Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family.Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneityForceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism
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Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
description
article
@en
im Januar 2004 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2004
@uk
name
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
@en
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
@nl
type
label
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
@en
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
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prefLabel
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
@en
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
@nl
P2093
P50
P356
P1433
P1476
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
@en
P2093
A Pierallini
B Dallapiccola
C Criscuolo
F Brancati
P304
P356
10.1212/WNL.62.2.262
P407
P577
2004-01-01T00:00:00Z