(Q90859270)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31636353%20AND%20SRC:MED&resulttype=core&format=json

17 April 2020

title

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31636353%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

17 April 2020

main subject

1 reference

1

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17 April 2020

Daniel Osborn

2

1 reference

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17 April 2020

Ege Ozkan

17

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17 April 2020

Yalda Jamshidi

28

1 reference

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17 April 2020

author name string

Ina Gehweiler

3

1 reference

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17 April 2020

Maike Nagel

4

1 reference

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17 April 2020

Ulrike Ulmer

5

1 reference

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17 April 2020

Somayeh Bakhtiari

6

1 reference

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17 April 2020

Rim Amouri

7

1 reference

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17 April 2020

Reza Boostani

8

1 reference

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17 April 2020

Faycal Hentati

9

1 reference

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17 April 2020

Maryam M Hockley

10

1 reference

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17 April 2020

Benedikt Hölbling

11

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17 April 2020

Thomas Schwarzmayr

12

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17 April 2020

Ehsan Ghayoor Karimiani

13

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17 April 2020

Christoph Kernstock

14

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17 April 2020

Reza Maroofian

15

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17 April 2020

Wolfgang Müller-Felber

16

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17 April 2020

Sergio Padilla-Lopez

18

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17 April 2020

Selina Reich

19

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17 April 2020

Jennifer Reichbauer

20

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17 April 2020

Hossein Darvish

21

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17 April 2020

Neda Shahmohammadibeni

22

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17 April 2020

Abbas Tafakhori

23

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17 April 2020

Katharina Vill

24

1 reference

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17 April 2020

Stephan Zuchner

25

1 reference

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17 April 2020

Michael C Kruer

26

1 reference

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17 April 2020

Juliane Winkelmann

27

1 reference

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17 April 2020

Rebecca Schüle

29

1 reference

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17 April 2020

publication date

21 October 2019

1 reference

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17 April 2020

published in

Nature Communications

1 reference

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17 April 2020

volume

10

1 reference

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17 April 2020

issue

1

1 reference

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17 April 2020

page(s)

4790

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Calcium signaling in Alzheimer's disease & therapies

17 April 2020

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

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7 January 2021

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

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7 January 2021

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7 January 2021

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands

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7 January 2021

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7 January 2021

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

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7 January 2021

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31636353%20AND%20SRC:MED&resulttype=core&format=json

17 April 2020

0 references

1 reference

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17 April 2020

1 reference