(Q48437591)

English

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

scientific article published in August 2012

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scholarly article

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8 February 2020

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22805644%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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Tommaso Tartaglione

8

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8 February 2020

Marcella Masciullo

1

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8 February 2020

Filippo Maria Santorelli

4

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8 February 2020

Gabriella Silvestri

9

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8 February 2020

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A Modoni

2

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8 February 2020

A Tessa

3

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8 February 2020

V Rizzo

5

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8 February 2020

G D'Amico

6

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8 February 2020

F Laschena

7

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8 February 2020

publication date

1 August 2012

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8 February 2020

European Journal of Neurology

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8 February 2020

19

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8 February 2020

8

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8 February 2020

e77-8

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8 February 2020

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2012.03752.X

21 January 2018

Identifiers

10.1111/J.1468-1331.2012.03752.X

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22805644%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22805644%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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