SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyLoss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11The use of next-generation sequencing in movement disordersA case report of SPG11 mutations in a Chinese ARHSP-TCC familyNeurotransmitter abnormalities and response to supplementation in SPG11.SPG11 Presenting with TremorGenetic and phenotypic characterization of complex hereditary spastic paraplegiaRapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patientsStriatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism.Pallidopyramidal disease: a misnomer?Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.Parkinsonism and inborn errors of metabolism.Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).Immunohistochemical localization of spatacsin in α-synucleinopathies.SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation.Genetics and epigenetics of Parkinson's disease.SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutationsNovel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism
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P2860
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@en
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@nl
type
label
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@en
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@nl
prefLabel
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@en
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@nl
P2093
P50
P1433
P1476
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
@en
P2093
Clotilde Lagier-Tourenne
Marie Fleury
Michel Koenig
Paola Denora
P2888
P304
P356
10.1007/S00415-009-0083-3
P50
P577
2009-01-01T00:00:00Z