(Q59153436)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21381113%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21381113%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

1 reference

hereditary spastic paraplegia

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

2

1 reference

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24 January 2020

Gabriella Silvestri

4

1 reference

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24 January 2020

Anna Rita Bentivoglio

7

1 reference

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24 January 2020

Filippo Maria Santorelli

3

object named as

Filippo M Santorelli

1 reference

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24 January 2020

author name string

Arianna Guidubaldi

1

1 reference

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24 January 2020

Martina Petracca

5

1 reference

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24 January 2020

Alessandra Tessa

6

1 reference

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24 January 2020

language of work or name

English

0 references

publication date

1 February 2011

1 reference

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24 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21381113%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

26

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24 January 2020

issue

3

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24 January 2020

page(s)

553-556

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21381113%20AND%20SRC:MED&resulttype=core&format=json

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

24 January 2020

cites work

1 reference

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

21 January 2018

1 reference

Classification of the hereditary ataxias and paraplegias

21 January 2018

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Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

21 January 2018

1 reference

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

21 January 2018

1 reference

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

21 January 2018

1 reference

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

21 January 2018

1 reference

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

21 January 2018

1 reference

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

21 January 2018

1 reference

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

21 January 2018

1 reference

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

21 January 2018

1 reference

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

21 January 2018

1 reference

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

21 January 2018

1 reference

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.23552

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21381113%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference