(Q30497998)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Developmental and degenerative features in a complicated spastic paraplegia (English)

1 reference

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1 February 2020

3

1 reference

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1 February 2020

M. Chiara Manzini

1

1 reference

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1 February 2020

Ganeshwaran H Mochida

4

object named as

Ganeshwaran H Mochida

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

14

Christopher A Walsh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

11

Brenda J Barry

1 reference

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1 February 2020

10

Jennifer N Partlow

1 reference

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1 February 2020

8

Danielle Gleason

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

9

Muna Al Saffar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

2

Anna Rajab

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

5

Wen-Hann Tan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

6

Ramzi Nasir

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

R Sean Hill

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Mike Vernon

12

1 reference

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1 February 2020

Anthony-Samuel LaMantia

13

1 reference

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1 February 2020

publication date

1 April 2010

1 reference

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1 February 2020

1 reference

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1 February 2020

volume

67

1 reference

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1 February 2020

page(s)

516-525

1 reference

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1 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

Identification of novel spartin-interactors shows spartin is a multifunctional protein

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Neuropathy target esterase gene mutations cause motor neuron disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Hereditary spastic paraplegias: an update

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

When half is not enough: gene expression and dosage in the 22q11 deletion syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

CDC growth charts: United States

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Allegro, a new computer program for multipoint linkage analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Troyer syndrome: a combination of central brain abnormality and motor neuron disease?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Forebrain induction, retinoic acid, and vulnerability to schizophrenia: insights from molecular and genetic analysis in developing mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: New entity?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Troyer Syndrome: report of the first "non-Amish" sibship and review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Classification of the hereditary ataxias and paraplegias

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027847

10.1001/ARCHNEUROL.2010.46

26 November 2018

Identifiers

DOI

1 reference

13 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437587%20AND%20SRC:MED&resulttype=core&format=json