(Q24532220)

4 July 2017

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia (English)

1 reference

4 July 2017

0 references

1 reference

3

Christos Proukakis

1 reference

4 July 2017

Arnaud Chatonnet

6

0 references

Michael Simpson

object named as

Michael A Simpson

1

0 references

author name string

Harold Cross

2

1 reference

4 July 2017

Anna Pryde

4

1 reference

4 July 2017

Ruth Hershberger

5

1 reference

4 July 2017

Michael A Patton

7

1 reference

4 July 2017

Andrew H Crosby

8

1 reference

4 July 2017

language of work or name

English

0 references

publication date

16 October 2003

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

73

1 reference

4 July 2017

1147-1156

1 reference

4 July 2017

5

1 reference

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

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Characterization and expression of three novel differentiation-related genes belong to the human NDRG gene family

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Cloning of ACP33 as a novel intracellular ligand of CD4

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Absence makes the search grow longer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Enhanced genome annotation using structural profiles in the program 3D-PSSM

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Disruption of cellular transport: a common cause of neurodegeneration?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Alpha/Beta-hydrolase fold enzymes: structures, functions and mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Is the transportation highway the right road for hereditary spastic paraplegia?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Hereditary spastic paraparesis: a review of new developments.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

aCHEdb: the database system for ESTHER, the alpha/beta fold family of proteins and the Cholinesterase gene server

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Prediction of protein side-chain rotamers from a backbone-dependent rotamer library: a new homology modeling tool

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Identification of a novel class in the alpha/beta hydrolase fold superfamily: the N-myc differentiation-related proteins.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180493

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

29 November 2018

2 references

PubMed

https://pubmed.ncbi.nlm.nih.gov/14564668

12 December 2020

inferred from PubMed ID database lookup

Crossref

https://api.crossref.org/works/10.1086%2F379522

7 January 2021

inferred from DOI database lookup

A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14564668

12 December 2020

inferred from PubMed ID database lookup

Electrotactins: a class of adhesion proteins with conserved electrostatic and structural motifs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14564668

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/379522

1 reference

4 July 2017

1 reference

4 July 2017

1 reference