Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations (Q44973766)

7 December 2017

title

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations (English)

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hereditary spastic paraplegia

7 December 2017

main subject

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8

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Margaret A. Pericak-Vance

7 December 2017

7

object named as

Margaret A Pericak-Vance

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7 December 2017

Ingrid K Svenson

1

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7 December 2017

Mark T Kloos

2

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7 December 2017

P Craig Gaskell

3

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7 December 2017

Martha A Nance

4

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7 December 2017

James Y Garbern

5

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7 December 2017

Shin-ichi Hisanaga

6

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7 December 2017

Douglas A Marchuk

9

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7 December 2017

publication date

10 July 2004

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7 December 2017

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7 December 2017

volume

5

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7 December 2017

issue

3

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7 December 2017

page(s)

157-164

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The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

7 December 2017

cites work

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12 December 2020

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

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12 December 2020

Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

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12 December 2020

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

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12 December 2020

A bipartite substrate recognition motif for cyclin-dependent kinases

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12 December 2020

Hereditary spastic paraplegia: the pace quickens

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12 December 2020

Cyclic AMP-induced neuronal differentiation via activation of p38 mitogen-activated protein kinase

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12 December 2020

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

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12 December 2020

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

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12 December 2020

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

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12 December 2020

Cycling at the interface between neurodevelopment and neurodegeneration

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12 December 2020

Retinoblastoma protein contains a C-terminal motif that targets it for phosphorylation by cyclin-cdk complexes

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12 December 2020

Is the transportation highway the right road for hereditary spastic paraplegia?

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12 December 2020

Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.

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12 December 2020

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

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12 December 2020

Mitogen-activated protein kinases (Erk1,2) phosphorylate Lys-Ser-Pro (KSP) repeats in neurofilament proteins NF-H and NF-M.

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12 December 2020

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

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12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

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12 December 2020

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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12 December 2020

The AAA team: related ATPases with diverse functions

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12 December 2020

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

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12 December 2020

The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

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12 December 2020

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

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12 December 2020

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

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12 December 2020

Advances in hereditary spastic paraplegia.

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12 December 2020

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

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12 December 2020

A motif-based profile scanning approach for genome-wide prediction of signaling pathways

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12 December 2020

A second leaky splice-site mutation in the spastin gene

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12 December 2020

Effect of the D178N Mutation and the Codon 129 Polymorphism on the Metabolism of the Prion Protein

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12 December 2020

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation

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12 December 2020

Differential regulation of mitogen-activated protein kinases ERK1/2 and ERK5 by neurotrophins, neuronal activity, and cAMP in neurons.

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12 December 2020

The endogenous and cell cycle-dependent phosphorylation of tau protein in living cells: implications for Alzheimer's disease

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12 December 2020

Prion disease (PrP-A117V) presenting with ataxia instead of dementia

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12 December 2020

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12 December 2020

Cdk5 in neuroskeletal dynamics

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12 December 2020

Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PSTPIP, a cytoskeletal-associated protein

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12 December 2020

Developmental regulation of the proteolysis of the p35 cyclin-dependent kinase 5 activator by phosphorylation

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12 December 2020

10.1007/S10048-004-0186-Z

Identifiers

DOI

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release_2bpogxzmbrfofacjiyq6fu7xle

7 December 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/2bpogxzmbrfofacjiyq6fu7xle

24 November 2022

mapped directly with Wikidata item

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