(Q48081283)

8 February 2018

title

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

1 reference

8 February 2018

author

Giovanni Stevanin

1

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8 February 2018

Enrico Bertini

23

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8 February 2018

José L. Loureiro

José L Loureiro

13

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Paula Coutinho

Paula Coutinho

4

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Vítor T. Cruz

Vítor T Cruz

16

0 references

Jacques Chomilier

Jacques Chomilier

5

0 references

Alexandra Durr

24

Alexandra Durr

1 reference

8 February 2018

25

Alexis Brice

1 reference

PubMed ID

17322883

8 February 2018

Filippo Maria Santorelli

2

Filippo M Santorelli

1 reference

8 February 2018

Perrine Charles

12

Perrine Charles

1 reference

8 February 2018

Elodie Martin

7

Elodie Martin

1 reference

8 February 2018

Christian Confavreux

15

Christian Confavreux

1 reference

8 February 2018

Hamid Azzedine

3

Hamid Azzedine

1 reference

8 February 2018

Meriem Tazir

20

Meriem Tazir

1 reference

8 February 2018

Naima Bouslam

10

Naïma Bouslam

1 reference

8 February 2018

Merle Ruberg

17

Merle Ruberg

1 reference

8 February 2018

Thérèse Bertrand-Fontaine

21

Bertrand Fontaine

1 reference

8 February 2018

Nizar Elleuch

14

Nizar Elleuch

1 reference

8 February 2018

Alexander Lossos

11

Alexander Lossos

1 reference

8 February 2018

Djamel Grid

19

Djamel Grid

1 reference

8 February 2018

Paola S Denora

6

Paola S Denora

1 reference

8 February 2018

Alessandra Tessa

9

Alessandra Tessa

1 reference

8 February 2018

Anne-Marie Ouvrard-Hernandez

8

Anne-Marie Ouvrard-Hernandez

1 reference

8 February 2018

Eric Leguern

18

Eric Leguern

1 reference

8 February 2018

author name string

Alessandro Filla

22

1 reference

8 February 2018

language of work or name

English

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publication date

18 February 2007

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

39

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8 February 2018

page(s)

366-372

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8 February 2018

issue

3

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8 February 2018

https://scigraph.springernature.com/pub.10.1038/ng1980

exact match

0 references

cites work

Classification of the hereditary ataxias and paraplegias

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

Clinical and genetic study of a large SPG4 Italian family

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

21 January 2018

1 reference

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

21 January 2018

1 reference

Deciphering protein sequence information through hydrophobic cluster analysis (HCA): current status and perspectives.

21 January 2018

1 reference

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

21 January 2018

1 reference

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Allegro, a new computer program for multipoint linkage analysis

21 January 2018

1 reference

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

21 January 2018

1 reference

Selective cortical VGLUT1 increase as a marker for antidepressant activity

21 January 2018

1 reference

Predicting the disulfide bonding state of cysteines using protein descriptors

21 January 2018

1 reference

HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project

21 January 2018

1 reference

Familial spastic paraplegia with mental impairment and thin corpus callosum

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Detection of secondary structure elements in proteins by hydrophobic cluster analysis

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1980

1 reference

8 February 2018

PubMed ID

17322883

1 reference

8 February 2018