(Q34768405)

English

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

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scholarly article

1 reference

Europe PubMed Central

4 August 2017

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

1 reference

Europe PubMed Central

4 August 2017

18

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17

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Chokri Mhiri

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Europe PubMed Central

4 August 2017

Giovanni Stevanin

object named as

Giovanni Stevanin

19

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13

object named as

Alexandra Durr

1 reference

Europe PubMed Central

4 August 2017

Michael Hutchinson

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object named as

Michael Hutchinson

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Europe PubMed Central

4 August 2017

Filippo Maria Santorelli

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object named as

Filippo M Santorelli

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Europe PubMed Central

4 August 2017

3

object named as

Amir Boukhris

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Europe PubMed Central

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object named as

Imed Feki

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Europe PubMed Central

4 August 2017

12

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Sylvie Forlani

1 reference

Europe PubMed Central

4 August 2017

5

object named as

Cyril Goizet

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Europe PubMed Central

4 August 2017

2

object named as

Elodie Martin

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Europe PubMed Central

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1

object named as

Sylvain Hanein

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Europe PubMed Central

4 August 2017

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object named as

Nizar Elleuch

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Europe PubMed Central

4 August 2017

Alexander Lossos

8

object named as

Alexander Lossos

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Europe PubMed Central

4 August 2017

Abdelmadjid Hamri

6

object named as

Abdelmadjid Hamri

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Europe PubMed Central

4 August 2017

9

object named as

Paola Denora

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Europe PubMed Central

4 August 2017

author name string

Paula Byrne

4

1 reference

Europe PubMed Central

4 August 2017

Ali Benomar

7

1 reference

Europe PubMed Central

4 August 2017

José Fernandez

10

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Europe PubMed Central

4 August 2017

language of work or name

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publication date

1 April 2008

1 reference

Europe PubMed Central

4 August 2017

American Journal of Human Genetics

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Europe PubMed Central

4 August 2017

82

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Europe PubMed Central

4 August 2017

4

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Europe PubMed Central

4 August 2017

992-1002

1 reference

Europe PubMed Central

4 August 2017

Spastic paraplegia 15: linkage and clinical description of three Tunisian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Hereditary spastic paraplegias: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

CG dinucleotide clustering is a species-specific property of the genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Early nonsense: mRNA decay solves a translational problem

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Structural Basis for Endosomal Targeting by FYVE Domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

The phosphatidylinositol 3-phosphate-binding FYVE finger

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Endofin, an endosomal FYVE domain protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Classification of the hereditary ataxias and paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

26 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

26 October 2018

Familial Spastic Paraplegia with Amyotrophy, Oligophrenia, and Central Retinal Degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

26 October 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427184

26 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18394578

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18394578

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18394578

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.03.004

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

ResearchGate publication ID

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