(Q33936459)

30 July 2017

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (English)

1 reference

hereditary spastic paraplegia

30 July 2017

1 reference

D Shriner

12

0 references

author name string

K G Meilleur

1

1 reference

30 July 2017

M Traoré

2

1 reference

30 July 2017

M Sangaré

3

1 reference

30 July 2017

A Britton

4

1 reference

30 July 2017

G Landouré

5

1 reference

30 July 2017

S Coulibaly

6

1 reference

30 July 2017

B Niaré

7

1 reference

30 July 2017

F Mochel

8

1 reference

30 July 2017

A La Pean

9

1 reference

30 July 2017

I Rafferty

10

1 reference

30 July 2017

C Watts

11

1 reference

30 July 2017

M T Littleton-Kearney

13

1 reference

30 July 2017

C Blackstone

14

1 reference

30 July 2017

A Singleton

15

1 reference

30 July 2017

K H Fischbeck

16

1 reference

30 July 2017

29 December 2009

1 reference

30 July 2017

1 reference

30 July 2017

11

1 reference

30 July 2017

3

1 reference

30 July 2017

313-318

1 reference

https://scigraph.springernature.com/pub.10.1007/s10048-009-0230-0

30 July 2017

0 references

cites work

Identifying autism loci and genes by tracing recent shared ancestry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Neuropathy target esterase gene mutations cause motor neuron disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Protrudin induces neurite formation by directional membrane trafficking

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

A single binding site for dilysine retrieval motifs and p23 within the gamma subunit of coatomer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

The role of ZFYVE27/protrudin in hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Fkbp8: novel isoforms, genomic organization, and characterization of a forebrain promoter in transgenic mice

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891134

Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20039086

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic testing for the spastic paraplegias: drowning by numbers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20039086

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-009-0230-0

1 reference

30 July 2017

1 reference

30 July 2017

1 reference