(Q38917174)

English

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

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scholarly article

1 reference

Europe PubMed Central

7 September 2017

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum (English)

1 reference

Europe PubMed Central

7 September 2017

hereditary spastic paraplegia

1 reference

based on heuristic

inferred from title

11

object named as

Alexis Brice

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9

object named as

Diana Zelenika

1 reference

Europe PubMed Central

7 September 2017

object named as

Chokri Mhiri

10

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Giovanni Stevanin

object named as

Giovanni Stevanin

12

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Emeline Mundwiller

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object named as

Emeline Mundwiller

1 reference

Europe PubMed Central

7 September 2017

1

object named as

Amir Boukhris

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Europe PubMed Central

7 September 2017

2

object named as

Imed Feki

1 reference

Europe PubMed Central

7 September 2017

Jérémy Truchetto

6

object named as

Jérémy Truchetto

1 reference

Europe PubMed Central

7 September 2017

Anne Boland-Augé

5

object named as

Anne Boland-Augé

1 reference

Europe PubMed Central

7 September 2017

3

object named as

Nizar Elleuch

1 reference

Europe PubMed Central

7 September 2017

Mohamed Imed Miladi

4

object named as

Mohamed Imed Miladi

1 reference

Europe PubMed Central

7 September 2017

author name string

Nadia Jezequel

8

1 reference

Europe PubMed Central

7 September 2017

publication date

1 July 2010

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Europe PubMed Central

7 September 2017

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Europe PubMed Central

7 September 2017

11

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Europe PubMed Central

7 September 2017

4

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Europe PubMed Central

7 September 2017

441-448

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Europe PubMed Central

7 September 2017

https://scigraph.springernature.com/pub.10.1007/s10048-010-0249-2

0 references

Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0249-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-010-0249-2

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Many pathways lead to hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of the hereditary ataxias and paraplegias

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial spastic paraplegia with mental impairment and thin corpus callosum

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Faster sequential genetic linkage computations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recent advances in the genetics of spastic paraplegias

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

“Mini-mental state”

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spastic paraparesis: a review of new developments.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroradiological findings in hereditary spastic paraplegia with a thin corpus callosum.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20593214

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-010-0249-2

1 reference

Europe PubMed Central

7 September 2017

1 reference

Europe PubMed Central

7 September 2017

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