Classification of the hereditary ataxias and paraplegias.
about
A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinerySequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationSPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegiaHereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER networkLoss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaEndogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaMutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaA genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaMitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originIntramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegiaA missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisMutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaTroyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor traffickingPain in Neurodegenerative Disease: Current Knowledge and Future PerspectivesOxidative Stress in Caenorhabditis elegans: Protective Effects of SpartinA hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyDysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegiaProtrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegiaMutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaSpg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signalingIdentification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxiaSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsAxonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transportHomozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudyMutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.Developmental and degenerative features in a complicated spastic paraplegia.A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegenerationHereditary spastic paraplegia and Evans's syndrome.Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.Peroneal muscular atrophy with pyramidal featuresMitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts.Cerebellar degeneration in dominantly inherited spastic paraplegia.Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship.
P2860
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P2860
Classification of the hereditary ataxias and paraplegias.
description
1983 nî lūn-bûn
@nan
1983 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Classification of the hereditary ataxias and paraplegias.
@ast
Classification of the hereditary ataxias and paraplegias.
@en
Classification of the hereditary ataxias and paraplegias.
@nl
type
label
Classification of the hereditary ataxias and paraplegias.
@ast
Classification of the hereditary ataxias and paraplegias.
@en
Classification of the hereditary ataxias and paraplegias.
@nl
prefLabel
Classification of the hereditary ataxias and paraplegias.
@ast
Classification of the hereditary ataxias and paraplegias.
@en
Classification of the hereditary ataxias and paraplegias.
@nl
P1433
P1476
Classification of the hereditary ataxias and paraplegias.
@en
P2093
A E Harding
P304
P356
10.1016/S0140-6736(83)92879-9
P407
P577
1983-05-01T00:00:00Z