(Q30436118)

18 August 2017

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy (English)

1 reference

Hereditary neuralgic amyotrophy

18 August 2017

1 reference

9

0 references

author name string

M C Hannibal

1

1 reference

18 August 2017

E K Ruzzo

2

1 reference

18 August 2017

L R Miller

3

1 reference

18 August 2017

B Betz

4

1 reference

18 August 2017

J G Buchan

5

1 reference

18 August 2017

D M Knutzen

6

1 reference

18 August 2017

K Barnett

7

1 reference

18 August 2017

M L Landsverk

8

1 reference

18 August 2017

E LeGuern

10

1 reference

18 August 2017

H M Bedford

11

1 reference

18 August 2017

B B Worrall

12

1 reference

18 August 2017

S Lovitt

13

1 reference

18 August 2017

S H Appel

14

1 reference

18 August 2017

E Andermann

15

1 reference

18 August 2017

T D Bird

16

1 reference

18 August 2017

P F Chance

17

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 May 2009

1 reference

18 August 2017

1 reference

18 August 2017

72

1 reference

18 August 2017

20

1 reference

18 August 2017

1755-1759

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

18 August 2017

1 reference

Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Diabetic neuropathy--a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Translational control of SEPT9 isoforms is perturbed in disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Diabetic neuropathies: clinical manifestations and current treatment options

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Do septins have a role in cancer?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

The pathobiology of the septin gene family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Heredofamilial mononeuritis multiplex with brachial predilection.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

The UCSC Genome Browser Database

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Initial sequencing and analysis of the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

dbSNP: the NCBI database of genetic variation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

The clinical spectrum of neuralgic amyotrophy in 246 cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2683739

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study

26 November 2018

1 reference

12 December 2020

Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium

1 reference

12 December 2020

Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy

1 reference

12 December 2020

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

1 reference

12 December 2020

Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy

1 reference

12 December 2020

Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families

1 reference

12 December 2020

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities

1 reference

12 December 2020

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q

1 reference

12 December 2020

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25

1 reference

12 December 2020

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

1 reference

12 December 2020

Heredofamilial neuritis with brachial predilection

1 reference

12 December 2020

Cytoskeletal modification of Rho guanine nucleotide exchange factor activity: identification of a Rho guanine nucleotide exchange factor as a binding partner for Sept9b, a mammalian septin

1 reference

12 December 2020

Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states

1 reference

12 December 2020

The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types?

1 reference

12 December 2020

10.1212/WNL.0B013E3181A609E3

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19451530

1 reference