A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). (Q34114789)

31 July 2017

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). (English)

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31 July 2017

15

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Ludger Schöls

17

Ludger Schöls

1 reference

31 July 2017

Christian Beetz

2

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Giovanni Stevanin

Giovanni Stevanin

4

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Alexandra Durr

11

Alexandra Durr

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31 July 2017

14

Olaf Riess

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31 July 2017

3

Rebecca Schüle

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31 July 2017

6

Sylvie Forlani

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31 July 2017

Chantal M E Tallaksen

13

Chantal M E Tallaksen

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31 July 2017

9

Stephan Klebe

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31 July 2017

Anne Kjersti Erichsen

5

Anne Kjersti Erichsen

1 reference

31 July 2017

7

Cécile Zaros

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31 July 2017

10

Sven Klimpe

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31 July 2017

Nina A Schlipf

1

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31 July 2017

Kathrin Karle

8

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31 July 2017

Susanne Otto

12

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31 July 2017

Peter Bauer

16

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31 July 2017

12 May 2010

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European Journal of Human Genetics

31 July 2017

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31 July 2017

18

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31 July 2017

9

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31 July 2017

1065-1067

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.68

31 July 2017

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A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

5 July 2018

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5 July 2018

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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

5 July 2018

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5 July 2018

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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

5 July 2018

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Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

21 January 2018

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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

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The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

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12 December 2020

Hereditary spastic paraplegia

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12 December 2020

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

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12 December 2020

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

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12 December 2020

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

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12 December 2020

SPG10 is a rare cause of spastic paraplegia in European families

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.68

1 reference

31 July 2017

1 reference

31 July 2017

1 reference