About: A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

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About: A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia Goto Sponge NotDistinct Permalink

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description	wetenschappelijk artikel (nl) article scientifique publié en 2008 (fr) наукова стаття, опублікована в січні 2008 (uk) im Januar 2008 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57085813-43E1AD3B-E9C4-4CA3-8555-0B9A2D9F6CD6
publication date	2008-01-16 00:00:00Z (xsd:dateTime)
cites work	wds:Q57085813-05F0512E-ADD8-44BF-95EB-1BD00385BD89 wds:Q57085813-082A056E-B0E8-4A3B-89DC-1BCB5B4B1778 wds:Q57085813-0B2432AF-871A-4006-9AD3-67EC15DAFE64 wds:Q57085813-10A0F3E0-D22C-49DE-8779-93D4D6D682FD wds:Q57085813-1341C97C-75BA-4D5D-8AC7-8F3B234A4F21 wds:Q57085813-31DEB09B-F4CC-4E0F-8387-FC43710873CC wds:Q57085813-37089551-FB22-49CC-9874-873B45AE4447 wds:Q57085813-3E01C83A-C045-41E9-8F18-3FECF31EC014 wds:Q57085813-3FAC7CB0-8B77-4A19-A8C0-A23DBC5F44C6 wds:Q57085813-49C27597-1255-490E-8765-CEACA6FC4277 wds:Q57085813-5019C5EB-2A08-4E45-A88F-541CE3635BE6 wds:Q57085813-5CAC1966-098D-4917-B394-89244592BC80 wds:Q57085813-63CF5BBD-47BD-4654-9C5D-57184E02D97D wds:Q57085813-66334718-B35A-4BF4-AC00-592E5D6833D2 wds:Q57085813-6B361968-62C0-4CA6-AC27-6E1F2D6D01DC wds:Q57085813-6FEE2EAD-4FE2-4BC0-89B0-E1B8DB6D3D8D wds:Q57085813-7A27E1E0-7CF0-47F5-ADEF-A5184C412E2D wds:Q57085813-7C05FBB2-D419-4147-95B8-42AD38F28768 wds:Q57085813-98488920-DC62-4BF0-885E-3BC1A0C47C65 wds:Q57085813-A5166ACD-B638-4DF6-9D17-ED857ACA151E wds:Q57085813-B1F9C1B7-C66F-43D2-AFF9-B27078B4804C wds:Q57085813-BBABA130-0282-4458-B0F4-3029C7510F74 wds:Q57085813-C1C444FA-581B-4128-8981-92CB42003C39 wds:Q57085813-DCDAA69A-1A8D-4959-AE96-76971F98231A wds:Q57085813-EA473F41-93DB-4A7B-9039-8CE58753DE77 wds:Q57085813-F5459273-5911-4011-B166-8185F2A753C8 wds:Q57085813-F69AAABB-A7E1-49B9-865B-DAE102AB506B wds:Q57085813-F90A5FAB-9BA8-403C-A4F2-4A5051EA8BFB wds:Q57085813-FC435675-DD09-459C-86E5-C744F2214D41
cites work	The UCSC Table Browser data retrieval tool Regulation of mitochondrial morphology through proteolytic cleavage of OPA1 In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport Silencers regulate both constitutive and alternative splicing events in mammals Mitochondrial fusion and fission in mammals Blue Native electrophoresis to study mitochondrial and other protein complexes Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia Mfold web server for nucleic acid folding and hybridization prediction ESEfinder: A web resource to identify exonic splicing enhancers Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2 -mediated oxidative insult in H9C2 myocardial cells AAA+ proteins: have engine, will work Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia Listening to silence and understanding nonsense: exonic mutations that affect splicing Classification of the hereditary ataxias and paraplegias Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns Biased distribution of inverted and direct Alus in the human genome: implications for insertion, exclusion, and genome stability. Marked aging-related decline in efficiency of oxidative phosphorylation in human skin fibroblasts. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England Identification of a major recombination hotspot in patients with short stature and SHOX deficiency Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
author name string	wds:Q57085813-392E39E5-F6F2-4BC1-A3EF-0D2CA44E8AE4 wds:Q57085813-60118D6C-4CC5-461D-A173-F77B3F1DD5D7 wds:Q57085813-6321B577-D490-40FC-AC64-DC4D0C53721E wds:Q57085813-87FD1D26-42E7-4EFA-B981-DE7D6534C294 wds:Q57085813-AD8E6501-A8CB-45FC-8A16-C44C448A3963 wds:Q57085813-AFADFEE5-1A2D-44FA-94FF-854556C8FC04 wds:Q57085813-F3A8ED5C-91DE-47EB-94FD-0AD53D1C4B29 wds:Q57085813-FA365D5A-9B43-40D7-A9C3-5CC75263C350
author name string	Anna Carla Turconi Gaetano Villani Francesca Crippa Alessia Arnoldi Claudia Crimella Francesca Redaelli Alessandra Tonelli Chris Panzeri
rdfs:label	A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia (en) A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia (nl)
skos:prefLabel	A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia (en) A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia (nl)
name	A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia (en) A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia (nl)
author	wds:Q57085813-221D6187-F232-4F4F-9E96-0FB83AD8504E wds:Q57085813-23F2E860-38C0-441B-BE58-70B4ECA556D1 wds:Q57085813-4D7BA481-8CA4-4791-9194-9A69D6E4B6D4 wds:Q57085813-648AB870-FA1C-49F5-BDFE-BE09512518B6 wds:Q57085813-65E9B03A-E557-4BD9-AE07-32D797EDF917 wds:Q57085813-713BEC76-3796-4D40-9D21-E781C6F3B170 wds:Q57085813-8BF8BCC2-D5F7-47AD-81FF-53B90BC870BB wds:Q57085813-C081F784-89F4-4813-AC31-32561B71281C wds:Q57085813-C7C4C1C9-B7C3-4706-8496-EEF816E6EC16 wds:Q57085813-CA2930C1-5574-42D9-8D8C-C2A5AA425A37
author	Nereo Bresolin Alessandra Renieri Giovanni Meola

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