SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis (Q33656243)

28 July 2017

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis (English)

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juvenile amyotrophic lateral sclerosis

28 July 2017

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amyotrophic lateral sclerosis

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Peter Henry St George-Hyslop

inferred from title

author

Peter H St George-Hyslop

9

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Antonella Borreca

Antonella Borreca

3

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Antonio Orlacchio

Antonio Orlacchio

1

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Roberto Massa

Roberto Massa

5

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Toshitaka Kawarai

11

Toshitaka Kawarai

1 reference

28 July 2017

Carla Babalini

2

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28 July 2017

Clarice Patrono

4

1 reference

28 July 2017

Sarenur Basaran

6

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28 July 2017

Renato P Munhoz

7

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28 July 2017

Ekaterina A Rogaeva

8

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28 July 2017

Giorgio Bernardi

10

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28 July 2017

language of work or name

English

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publication date

28 January 2010

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28 July 2017

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28 July 2017

133

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28 July 2017

Pt 2

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28 July 2017

591-598

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Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

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/10.1093%2FBRAIN%2FAWP325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

Early-onset ALS with long-term survival associated with spastin gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

Hereditary spastic paraplegia: clinical genetic study of 15 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

Spastin mutations in sporadic adult-onset upper motor neuron syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2822627

Amyotrophic lateral sclerosis

30 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP325

An autopsy case of sporadic amyotrophic lateral sclerosis with 16-year survival without artificial ventilation

21 January 2018

1 reference

12 December 2020

Linkage analysis and family classification under heterogeneity

1 reference

12 December 2020

Clinical and genetic study of a large Italian family linked to SPG12 locus

1 reference

12 December 2020

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWP325

1 reference

28 July 2017

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28 July 2017

1 reference