Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. (Q43191382)

15 November 2017

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. (English)

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15 November 2017

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12

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15 November 2017

Eric Salmon

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author name string

Eleonora Di Gregorio

1

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15 November 2017

Laura Orsi

2

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15 November 2017

Massimiliano Godani

3

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15 November 2017

Giovanna Vaula

4

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15 November 2017

Stella Jensen

5

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15 November 2017

Giancarlo Ferrari

7

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15 November 2017

Stefania Squadrone

8

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15 November 2017

Maria Cesarina Abete

9

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15 November 2017

Claudia Cagnoli

10

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Alessandro Brussino

11

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15 November 2017

1 March 2010

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9

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1

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115-123

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https://scigraph.springernature.com/pub.10.1007/s12311-009-0154-0

15 November 2017

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A new autosomal dominant pure cerebellar ataxia.

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Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

21 January 2018

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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

21 January 2018

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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

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12 December 2020

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

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12 December 2020

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

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12 December 2020

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

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12 December 2020

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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12 December 2020

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

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12 December 2020

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

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12 December 2020

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

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12 December 2020

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

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12 December 2020

The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse

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12 December 2020

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

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12 December 2020

Molecular pathogenesis of spinocerebellar ataxias.

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12 December 2020

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

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Clinical features and classification of inherited ataxias.

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Spinocerebellar ataxia type 15.

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12 December 2020

A microhomology-mediated break-induced replication model for the origin of human copy number variation

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10.1007/S12311-009-0154-0

Identifiers

DOI

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15 November 2017

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