Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. (Q36776172)

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21 February 2020

title

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture (English)

1 reference

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21 February 2020

3

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21 February 2020

Fabiana Fattori

4

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21 February 2020

Filippo Maria Santorelli

8

1 reference

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21 February 2020

Tiziano Verri

9

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21 February 2020

author name string

Alessandro Romano

1

1 reference

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21 February 2020

Alessandra Tessa

2

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21 February 2020

Maria Fulvia de Leva

5

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21 February 2020

Alessandra Terracciano

6

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21 February 2020

Carlo Storelli

7

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21 February 2020

publication date

1 March 2013

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21 February 2020

1 reference

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21 February 2020

volume

34

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21 February 2020

issue

3

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21 February 2020

page(s)

525-537

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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

21 February 2020

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A phenotype without spasticity in sacsin-related ataxia

29 September 2017

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Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

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Identification of a SACS gene missense mutation in ARSACS.

29 September 2017

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A novel mutation in SACS gene in a family from southern Italy

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

5 September 2018

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5 September 2018

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A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

5 September 2018

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Crossref

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Autosomal recessive spastic ataxia of Charlevoix–Saguenay

21 January 2018

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay

21 January 2018

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12 December 2020

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

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Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS

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

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay

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12 December 2020

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Novel SACS mutation in a Belgian family with sacsin-related ataxia

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.22269

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280630%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

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21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280630%20AND%20SRC:MED&resulttype=core&format=json