(Q36509290)

14 August 2017

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1. (English)

1 reference

14 August 2017

1 reference

parkinsonian syndrome

1 reference

2

John G Nutt

1 reference

14 August 2017

Hans H Kluenemann

1

1 reference

PMCID

4729292

14 August 2017

Marie Y Davis

series ordinal

3

1 reference

PMCID

4729292

14 August 2017

Thomas D Bird

series ordinal

4

1 reference

14 August 2017

3 September 2013

1 reference

Journal of the Neurological Sciences

14 August 2017

1 reference

14 August 2017

335

1 reference

14 August 2017

1-2

1 reference

14 August 2017

219-220

1 reference

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4729292

Disease and patient characteristics in NP-C patients: findings from an international disease registry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4729292

The link between the GBA gene and 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=4729292

The genetics and neuropathology of Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4729292

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4729292

Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4729292

Heterozygous Niemann-Pick disease type C presenting with tremor.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4729292

10.1016/J.JNS.2013.08.033

21 September 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference

14 August 2017

1 reference

PMCID

4729292