Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy (Q59241973)

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22 February 2020

title

Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy (English)

1 reference

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22 February 2020

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22 February 2020

Elisa Bruno

5

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22 February 2020

Antonio Gambardella

9

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22 February 2020

Aldo Quattrone

10

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22 February 2020

author name string

Valeria Dibilio

1

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22 February 2020

Giovanni Mostile

4

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22 February 2020

Monica Gagliardi

8

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22 February 2020

Alessandra Nicoletti

3

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22 February 2020

Grazia Annesi

6

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22 February 2020

Patrizia Tarantino

7

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22 February 2020

Mario Zappia

11

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22 February 2020

publication date

1 August 2013

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22 February 2020

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22 February 2020

volume

12

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22 February 2020

page(s)

589-592

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22 February 2020

issue

4

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https://scigraph.springernature.com/pub.10.1007/s12311-013-0451-5

22 February 2020

exact match

0 references

cites work

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

New mutation in the non-gigantic exon of SACS in Japanese siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

Mutations in SACS cause atypical and late-onset forms of ARSACS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12311-013-0451-5

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23338241

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23338241