REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. - Wikidata - wikimedia - TriplyDB

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

http://www.wikidata.org/entity/Q33739723

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Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia A class of dynamin-like GTPases involved in the generation of the tubular ER network A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)Membrane-shaping disorders: a common pathway in axon degeneration The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy Hereditary spastic paraplegia SPG4: what is known and not known about the disease.ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity MicroRNAs: history, biogenesis, and their evolving role in animal development and disease CNVs leading to fusion transcripts in individuals with autism spectrum disorder Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review Detection of novel 3' untranslated region extensions with 3' expression microarrays Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia SNPs in microRNA target sites and their potential role in human disease MicroRNAs in Experimental Models of Movement Disorders.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.MicroRNA polymorphisms: a giant leap towards personalized medicine.Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia Demonstrating polymorphic miRNA-mediated gene regulation in vivo: application to the g+6223G->A mutation of Texel sheep.A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Fusing a lasting relationship between ER tubules.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.A conserved amphipathic helix is required for membrane tubule formation by Yop1p BmREEPa Is a Novel Gene that Facilitates BmNPV Entry into Silkworm Cells Gait Patterns in Patients with Hereditary Spastic Paraparesis.A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1 Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).Genetic and phenotypic characterization of complex hereditary spastic paraplegia MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine

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P2860

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

http://www.wikidata.org/entity/Q33739723

description

2008 nî lūn-bûn

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2008 թուականի Մարտին հրատարակուած գիտական յօդուած

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2008 թվականի մարտին հրատարակված գիտական հոդված

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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name

REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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type

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REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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REEP1 mutation spectrum and ge ...... ry spastic paraplegia type 31.

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Anders O H Nygren

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Bart P van de Warrenburg

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Berry P H Kremer

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Berten Ceulemans

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Constance T R M Schrander-Stumpel

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Corey Braastad

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Henning Stolze

http://www.w3.org/2001/XMLSchema#string

Hubert J M Smeets

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Hui Zhu

http://www.w3.org/2001/XMLSchema#string

Jonathan Baets

http://www.w3.org/2001/XMLSchema#string

P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

MicroRNAs: genomics, biogenesis, mechanism, and function

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep

Sequence variants in SLITRK1 are associated with Tourette's syndrome

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1078-1086

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scholarly article

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10.1093/BRAIN/AWN026

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P407

P433

Pt 4

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P478

131

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Margaret A. Pericak-Vance

Rebecca Schüle

Stephan Züchner

Michael Hutchinson

Christian Beetz

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2008-03-05T00:00:00Z

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5530291

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18321925

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2841798

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