(Q34281920)

1 August 2017

title

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (English)

1 reference

Distal hereditary motor neuropathy type V

1 August 2017

main subject

0 references

author

Michaela Auer-Grumbach

15

Michaela Auer-Grumbach

0 references

Christian Beetz

Christian Beetz

1

0 references

Ingo Kurth

Ingo Kurth

9

0 references

Mary Reilly

13

Mary M Reilly

1 reference

1 August 2017

Thomas R Pieber

2

1 reference

1 August 2017

Nicole Hertel

3

1 reference

1 August 2017

Maria Schabhüttl

4

1 reference

1 August 2017

Carina Fischer

5

1 reference

1 August 2017

Slave Trajanoski

6

1 reference

1 August 2017

Elisabeth Graf

7

1 reference

1 August 2017

Silke Keiner

8

1 reference

1 August 2017

Thomas Wieland

10

1 reference

1 August 2017

Rita-Eva Varga

11

1 reference

1 August 2017

Vincent Timmerman

12

1 reference

1 August 2017

Tim M Strom

14

1 reference

1 August 2017

language of work or name

English

0 references

publication date

14 June 2012

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

91

1 reference

1 August 2017

issue

1

1 reference

1 August 2017

page(s)

139-145

1 reference

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

1 August 2017

cites work

1 reference

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6 July 2018

1 reference

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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

6 July 2018

1 reference

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Child neurology: hereditary spastic paraplegia in children

6 July 2018

1 reference

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Absence of layer-specific cadherin expression profiles in the neocortex of the reeler mutant mouse

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

A class of dynamin-like GTPases involved in the generation of the tubular ER network

6 July 2018

1 reference

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Seipinopathy: a novel endoplasmic reticulum stress-associated disease

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

The reticulon and DP1/Yop1p proteins form immobile oligomers in the tubular endoplasmic reticulum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

A class of membrane proteins shaping the tubular endoplasmic reticulum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

RTP family members induce functional expression of mammalian odorant receptors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

mRNA quality control: Marking the message for life or death.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Expression of N-cadherin mRNA during development of the mouse brain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397265

Many pathways lead to hereditary spastic paraplegia

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22703882

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22703882

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22703882

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2012.05.007

1 reference

release_nfohrn5dwbcl3hdmdc7xmyogly

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nfohrn5dwbcl3hdmdc7xmyogly

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3397265

1 reference

1 August 2017

1 reference