(Q33739723)

29 July 2017

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

1 reference

hereditary spastic paraplegia

29 July 2017

1 reference

1 reference

28

Ludger Schöls

1 reference

Margaret A. Pericak-Vance

29 July 2017

27

Margaret Pericak-Vance

1 reference

29 July 2017

Christian Beetz

1

0 references

Thomas Deufel

Thomas Deufel

26

0 references

Bernard Dan

Bernard Dan

15

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Jan Kassubek

Jan Kassubek

17

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Michael Hutchinson

Michael Hutchinson

23

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Rebecca Schüle

2

Rebecca Schüle

1 reference

29 July 2017

30

Stephan Züchner

1 reference

29 July 2017

Tine Deconinck

3

1 reference

29 July 2017

Khanh-Nhat Tran-Viet

4

1 reference

29 July 2017

Hui Zhu

5

1 reference

29 July 2017

Berry P H Kremer

6

1 reference

29 July 2017

Suzanna G M Frints

7

1 reference

29 July 2017

Wendy A G van Zelst-Stams

8

1 reference

29 July 2017

Paula Byrne

9

1 reference

29 July 2017

Susanne Otto

10

1 reference

29 July 2017

Anders O H Nygren

11

1 reference

29 July 2017

Jonathan Baets

12

1 reference

29 July 2017

Katrien Smets

13

1 reference

29 July 2017

Berten Ceulemans

14

1 reference

29 July 2017

Narasimhan Nagan

16

1 reference

29 July 2017

Sven Klimpe

18

1 reference

29 July 2017

Thomas Klopstock

19

1 reference

29 July 2017

Henning Stolze

20

1 reference

29 July 2017

Hubert J M Smeets

21

1 reference

29 July 2017

Constance T R M Schrander-Stumpel

22

1 reference

29 July 2017

Bart P van de Warrenburg

24

1 reference

29 July 2017

Corey Braastad

25

1 reference

29 July 2017

Peter de Jonghe

29

1 reference

29 July 2017

language of work or name

English

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publication date

5 March 2008

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29 July 2017

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29 July 2017

131

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29 July 2017

Pt 4

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29 July 2017

1078-1086

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The genetics of hereditary spastic paraplegia and implications for drug therapy

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Sequence variants in SLITRK1 are associated with Tourette's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

MicroRNAs: genomics, biogenesis, mechanism, and function

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

21 June 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN026

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Hereditary spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

The hereditary spastic paraplegias.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Nonsense-mediated mRNA decay in health and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841798

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN026

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN026

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN026

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/10.1093%2FBRAIN%2FAWN026

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

21 January 2018

1 reference

12 December 2020

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

1 reference

12 December 2020

Clinical features of hereditary spastic paraplegia due to spastin mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWN026

1 reference

29 July 2017

1 reference

29 July 2017

1 reference