Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
about
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.Genetic services and testing in Brazil.Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Increased prevalence of inherited neuromuscular disorders due to endogamy in Northeast Brazil: the need of community genetics servicesGenetics and genomics in Brazil: a promising futureThe neuro-ophthalmology of mitochondrial diseaseNeuromuscular disorders: genes, genetic counseling and therapeutic trialsHereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders.Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.Consanguineous unions and the burden of disability: a population-based study in communities of Northeastern Brazil.[Could endogamy explain the higher prevalence of disabilities in the population of the Brazilian Northeast?].Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
P2860
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P2860
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
description
im Mai 2005 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 2005
@uk
name
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@en
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@nl
type
label
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@en
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@nl
prefLabel
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@en
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@nl
P2093
P50
P356
P1433
P1476
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
@en
P2093
Alessandra Starling
Angelina M M Lino
Fernando Kok
Lucia I Macedo-Souza
Simone C Amorim
P2860
P356
10.1002/ANA.20478
P407
P577
2005-05-01T00:00:00Z