(Q51906337)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550563%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia (English)

1 reference

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5 February 2020

10

1 reference

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5 February 2020

Roberta Battini

1

1 reference

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5 February 2020

Silvia Perazza

5

1 reference

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5 February 2020

author name string

A Fogli

2

1 reference

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5 February 2020

D Borghetti

3

1 reference

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5 February 2020

A Michelucci

4

1 reference

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5 February 2020

F Baldinotti

6

1 reference

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5 February 2020

M E Conidi

7

1 reference

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5 February 2020

M I Ferreri

8

1 reference

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5 February 2020

P Simi

9

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5 February 2020

publication date

1 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550563%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Neurology

5 February 2020

published in

1 reference

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5 February 2020

volume

18

1 reference

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5 February 2020

issue

1

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5 February 2020

page(s)

150-157

1 reference

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Hereditary spastic paraparesis: a review of new developments.

5 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Hereditary spastic paraplegias: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

SPG3A: An additional family carrying a new atlastin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Clinical and genetic study of a large SPG4 Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Non-invasive electrical and magnetic stimulation of the brain, spinal cord and roots: basic principles and procedures for routine clinical application. Report of an IFCN committee

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Motor and somatosensory evoked potentials in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Transcranial magnetic stimulation study in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2010.03102.X

10.1111/J.1468-1331.2010.03102.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20550563%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference