(Q36454606)

14 August 2017

Neurotransmitter abnormalities and response to supplementation in SPG11. (English)

1 reference

14 August 2017

1 reference

Davide Tonduti

2

0 references

Adeline Vanderver

object named as

Adeline Vanderver

1

0 references

Marc C. Patterson

object named as

Marc Patterson

9

0 references

author name string

Sarah Auerbach

3

1 reference

14 August 2017

Johanna L Schmidt

4

1 reference

14 August 2017

Sumit Parikh

5

1 reference

14 August 2017

Gordon C Gowans

6

1 reference

14 August 2017

Kelly E Jackson

7

1 reference

14 August 2017

Pamela L Brock

8

1 reference

14 August 2017

Michelle Nehrebecky

10

1 reference

14 August 2017

Rena Godfrey

11

1 reference

14 August 2017

Wadih M Zein

12

1 reference

14 August 2017

William Gahl

13

1 reference

14 August 2017

Camilo Toro

14

1 reference

14 August 2017

1 June 2012

1 reference

Molecular Genetics and Metabolism

14 August 2017

1 reference

14 August 2017

107

1 reference

14 August 2017

1-2

1 reference

14 August 2017

229-233

1 reference

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Child neurology: hereditary spastic paraplegia in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Disorders of biopterin metabolism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

SPG11 compound mutations in spastic paraparesis with thin corpus callosum.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517733

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

4 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.020

Secondary abnormalities of neurotransmitters in infants with neurological disorders

7 January 2021

2 references

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.020

7 January 2021

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.020

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2012.05.020

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22749184

1 reference