(Q50879358)

English

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.

scientific article published on 25 June 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

Emanuela Leonardi

6

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

8

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

object named as

A Vettori

5

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author name string

E Gregianin

1

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

G Vazza

2

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

E Scaramel

3

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

F Boaretto

4

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

S C E Tosatto

7

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

E Pegoraro

9

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

M L Mostacciuolo

10

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

publication date

25 June 2013

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

European Journal of Neurology

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Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

20

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

11

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

1486-1491

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

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://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

An efficient procedure for genotyping single nucleotide polymorphisms.

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

CSpritz: accurate prediction of protein disorder segments with annotation for homology, secondary structure and linear motifs

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Protein secondary structure prediction based on position-specific scoring matrices

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Structure of the XPC binding domain of hHR23A reveals hydrophobic patches for protein interaction

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

1 reference

https://api.crossref.org/works/10.1111%2FENE.12220

21 January 2018

Identifiers

10.1111/ENE.12220

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23800155

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