(Q24301499)

SPG11 vesicle trafficking associated, spatacsin

GOA release 2020-03-11

1 reference

hereditary spastic paraplegia

GOA release 2020-03-11

1 reference

11

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Reena Prity Murmu

Reena Prity Murmu

1

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Frédéric Darios

Frédéric Darios

12

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Giovanni Stevanin

Giovanni Stevanin

13

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Typhaine Esteves

4

Typhaine Esteves

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Marie-Paule Muriel

5

Marie-Paule Muriel

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Elodie Martin

2

Elodie Martin

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Agnès Rastetter

3

Agnès Rastetter

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Khalid Hamid El Hachimi

6

Khalid Hamid El Hachimi

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Charles Duyckaerts

10

Charles Duyckaerts

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author name string

Paola Silvia Denora

7

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Aurélien Dauphin

8

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José Carlos Fernandez

Molecular and Cellular Neuroscience

9

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language of work or name

English

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publication date

July 2011

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published in

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volume

47

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page(s)

191-202

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issue

3

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cites work

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Recent advances in the genetics of spastic paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

The neuropathology of hereditary spastic paraparesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP).

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Advances in the hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Classification of the hereditary ataxias and paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Phosphoinositide-binding domains: Functional units for temporal and spatial regulation of intracellular signalling

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Structural basis for recognition of acidic-cluster dileucine sequence by GGA1

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

The FYVE domain in Smad anchor for receptor activation (SARA) is sufficient for localization of SARA in early endosomes and regulates TGF-beta/Smad signalling

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Sequential treatment of SH-SY5Y cells with retinoic acid and brain-derived neurotrophic factor gives rise to fully differentiated, neurotrophic factor-dependent, human neuron-like cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Establishment of a noradrenergic clonal line of rat adrenal pheochromocytoma cells which respond to nerve growth factor

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Endofin, an endosomal FYVE domain protein

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Gamma-adaptin interacts directly with Rabaptin-5 through its ear domain.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

SPG11--the most common type of recessive spastic paraplegia in Norway?

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

The structure and function of GGAs, the traffic controllers at the TGN sorting crossroads

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FJ.MCN.2011.04.004

7 January 2021

10.1016/J.MCN.2011.04.004

Identifiers

DOI

0 references

Fatcat ID

release_buzavccknnhrbij77agwfbxxlu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/buzavccknnhrbij77agwfbxxlu

24 November 2022