Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
about
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severingSpastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretionIdentification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastinMutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisThe Presynaptic Microtubule Cytoskeleton in Physiological and Pathological Conditions: Lessons from Drosophila Fragile X Syndrome and Hereditary Spastic ParaplegiasQuantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective SpastinHereditary spastic paraplegia SPG4: what is known and not known about the disease.Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaA Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severityTubulin polyglutamylation stimulates spastin-mediated microtubule severingFunctional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegiaMicrotubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partnersMutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic ParaplegiaOligomerization of ZFYVE27 (Protrudin) is necessary to promote neurite extension.Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes.ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegiaHigh frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Is the transportation highway the right road for hereditary spastic paraplegia?Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasThe prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin geneThe genetics of hereditary spastic paraplegia and implications for drug therapy.Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegiaPathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.SPG4 gene promoter regulation via Elk1 transcription factor.Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.
P2860
Q24295083-1F61819F-B752-4F99-B6E5-EE85B1A4E468Q24313184-16E7A886-5D53-4FBA-A85C-E538EE49193FQ24533436-462EF1D4-5949-4EB7-9123-C2BD2FD7D402Q24597228-64C6C270-1F57-4185-8DEB-7B0D85DBBBDCQ24672831-E8DED43C-6A3E-4A87-A57F-5B94ABBB9870Q26738451-6A6DA141-4AB1-4ED1-870D-5776C8A44E93Q27316215-1EABC70F-739F-4F75-8C67-677A19D65786Q27690406-8BBA32DE-10AF-4C3F-A040-34E17A1DAFC8Q28215111-9430777E-F45A-4FA5-941D-829BA0CB36C1Q28216435-6F7FEC8B-7F6D-4684-8297-5BCF7C883A94Q28504801-8318D8B8-CA25-4C04-8CDE-CB20AD87317BQ30494252-81F951E1-A9B7-4139-BA57-5623826A177BQ30530610-1D132137-B548-42D5-8306-C99FBAA49133Q33229002-9B8F371C-67E3-4386-BC7F-C019DFAD3EABQ33713215-66174297-B981-4296-ABFD-87E83BF63FE3Q33739723-ACC5CFE3-7CDC-4BC1-B3FD-2A3E54A797EBQ33788304-A4BE32B1-EEF7-429C-B48B-FB8A1A7A127AQ33911703-B5335BC3-06A3-4C8F-B3C4-7BA94786FECBQ34117749-6F37BD45-3DFF-4241-849B-6BDB93BA33D9Q34345088-71D1C767-84CF-4C23-B3BA-8CE1F0C53F44Q34383503-1D4BF094-0B02-4FA5-8A18-DE4F60FA1C4AQ34486617-CE09F51C-F2A8-4A2C-B425-2D4675F37938Q34545631-93817584-E7A8-4052-B995-A2EC5AD52F32Q34622419-C46D8BC3-5D97-4693-8A61-413F70256E6BQ34923057-5E006C03-6400-4535-AF97-E4F22B0FE945Q35059321-009D4E4E-17EF-4F78-9A93-395873D432FEQ35465124-84BAF98B-FFA6-4C0A-9666-A123C02FC7FCQ35475669-07AA0356-4D4F-4EC2-9F3F-4C58F50A5B41Q36895827-6E4F8DCF-667B-4C45-8E4A-C07B258102B5Q37219413-110C2F7F-6B87-4FDB-AC85-E0E2E329ED66Q37526116-DD122CF0-D6CF-4E88-821D-2EF3E7E282C4Q37708363-A2A62413-F46D-4A1D-BABE-01C3AB3610C5Q38283979-075098A2-96EE-46AB-AC54-42DDA37FCAC2Q38336775-68D2FBBF-8608-418F-BF51-04F13D2E89E5Q38750024-2232E67B-1199-41CC-A300-7E5C45140718Q38783743-21D4EB31-D4D8-4B82-9BA8-B049F7CDE0DCQ38910805-FA97A834-D057-412F-BB8D-B0260E032BE6Q39822913-CA209174-7C75-4DDB-B5EE-AA2256290757Q40862174-1ADFD32E-300F-46B6-A6D6-A7B35E45D9EDQ41001513-DF8260D0-3172-4195-B63A-A79D062163DD
P2860
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@ast
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@en
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@nl
type
label
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@ast
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@en
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@nl
prefLabel
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@ast
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@en
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@nl
P2093
P50
P3181
P356
P1476
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
@en
P2093
A Tartaglione
B Fontaine
C S Davoine
D Boentsch
J F Prud'homme
P304
P3181
P356
10.1093/HMG/9.4.637
P407
P577
2000-03-01T00:00:00Z