(Q50264153)

28 February 2018

title

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

1 reference

28 February 2018

author

Stanislas Lyonnet

18

1 reference

28 February 2018

Giovanni Stevanin

29

1 reference

28 February 2018

Didier Lacombe

Didier Lacombe

25

0 references

Annick Toutain

21

Annick Toutain

1 reference

28 February 2018

8

Julie Pilliod

1 reference

28 February 2018

26

Alexandra Durr

1 reference

28 February 2018

28

Alexis Brice

1 reference

28 February 2018

13

Didier Hannequin

1 reference

28 February 2018

Emeline Mundwiller

5

Emeline Mundwiller

1 reference

28 February 2018

Christel Depienne

2

Christel Depienne

1 reference

28 February 2018

Amir Boukhris

4

Amir Boukhris

1 reference

28 February 2018

Perrine Charles

14

Perrine Charles

1 reference

28 February 2018

Imed Feki

15

Imed Feki

1 reference

28 February 2018

Sylvie Forlani

11

Sylvie Forlani

1 reference

28 February 2018

Cyril Goizet

1

Cyril Goizet

1 reference

28 February 2018

Rodrigue Rossignol

27

Rodrigue Rossignol

1 reference

28 February 2018

Isabelle Coupry

7

Isabelle Coupry

1 reference

28 February 2018

Cécile Cazeneuve

12

Cécile Cazeneuve

1 reference

28 February 2018

Elisabeth Ollagnon-Roman

19

Elisabeth Ollagnon-Roman

1 reference

28 February 2018

Thérèse Bertrand-Fontaine

23

Bertrand Fontaine

1 reference

28 February 2018

Estelle Fedirko

10

Estelle Fedirko

1 reference

28 February 2018

Anne-Marie Ouvrard-Hernandez

17

Anne-Marie Ouvrard-Hernandez

1 reference

28 February 2018

Eric Leguern

24

Eric Leguern

1 reference

28 February 2018

Giovanni Benard

3

Giovanni Benard

1 reference

28 February 2018

author name string

Guilhem Solé

6

1 reference

28 February 2018

Marie-Laure Martin-Négrier

9

1 reference

28 February 2018

Jean-François Pinel

16

1 reference

28 February 2018

Jacqueline Yaouanq

20

1 reference

28 February 2018

Christelle Dussert

22

1 reference

28 February 2018

publication date

9 September 2011

1 reference

28 February 2018

published in

Human Mutation

1 reference

28 February 2018

volume

32

1 reference

28 February 2018

issue

10

1 reference

28 February 2018

page(s)

1118-1127

1 reference

28 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Strümpell's familial spastic paraplegia: genetics and neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Members of RTP and REEP gene families influence functional bitter taste receptor expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mitochondrial bioenergetics and structural network organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

The neuropathology of hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Hereditary optic neuropathies share a common mitochondrial coupling defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

An intimate liaison: spatial organization of the endoplasmic reticulum-mitochondria relationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Hereditary spastic paraplegias: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

MAM: more than just a housekeeper

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Investigation of mitochondrial function in hereditary spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mitofusin 2 builds a bridge between ER and mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Making heads or tails of phospholipids in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Hereditary "pure" spastic paraplegia: a study of nine families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

RTP family members induce functional expression of mammalian odorant receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Recent advances in the genetics of spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

A lethal defect of mitochondrial and peroxisomal fission

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Multi-system neurological disease is common in patients with OPA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

7 January 2021

Hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

7 January 2021

Mitochondrial Myopathy Studies on Permeabilized Muscle Fibers1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

7 January 2021

Clinical and genetic study of a novel mutation in the REEP1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

7 January 2021

Novel SPG3A and SPG4 mutations in two patients with Silver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21542

7 January 2021

Identifiers

DOI

10.1002/HUMU.21542

1 reference

28 February 2018

PubMed ID

21618648

1 reference

28 February 2018