REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. (Q50264153)

28 February 2018

title

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. (English)

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28 February 2018

author

Stanislas Lyonnet

18

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Giovanni Stevanin

29

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Didier Lacombe

Didier Lacombe

25

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Annick Toutain

21

Annick Toutain

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8

Julie Pilliod

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26

Alexandra Durr

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28

Alexis Brice

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13

Didier Hannequin

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Emeline Mundwiller

5

Emeline Mundwiller

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Christel Depienne

2

Christel Depienne

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28 February 2018

Amir Boukhris

4

Amir Boukhris

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Perrine Charles

14

Perrine Charles

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28 February 2018

Imed Feki

15

Imed Feki

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28 February 2018

Sylvie Forlani

11

Sylvie Forlani

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Cyril Goizet

1

Cyril Goizet

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Rodrigue Rossignol

27

Rodrigue Rossignol

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Isabelle Coupry

7

Isabelle Coupry

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Cécile Cazeneuve

12

Cécile Cazeneuve

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Elisabeth Ollagnon-Roman

19

Elisabeth Ollagnon-Roman

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Thérèse Bertrand-Fontaine

23

Bertrand Fontaine

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Estelle Fedirko

10

Estelle Fedirko

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Anne-Marie Ouvrard-Hernandez

17

Anne-Marie Ouvrard-Hernandez

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Eric Leguern

24

Eric Leguern

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Giovanni Benard

3

Giovanni Benard

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author name string

Guilhem Solé

6

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Marie-Laure Martin-Négrier

9

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Jean-François Pinel

16

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Jacqueline Yaouanq

20

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Christelle Dussert

22

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publication date

9 September 2011

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28 February 2018

published in

Human Mutation

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28 February 2018

volume

32

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28 February 2018

issue

10

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28 February 2018

page(s)

1118-1127

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28 February 2018

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

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REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

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

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Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

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RTP family members induce functional expression of mammalian odorant receptors

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Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

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21 January 2018

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

21 January 2018

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21 January 2018

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7 January 2021

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7 January 2021

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

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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

Identifiers

DOI

10.1002/HUMU.21542

1 reference

28 February 2018

PubMed ID

21618648

1 reference

28 February 2018