(Q40575317)

21 September 2017

title

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening (English)

1 reference

21 September 2017

5

Ludger Schöls

1 reference

21 September 2017

1

Matthis Synofzik

0 references

author name string

Florian Harmuth

2

1 reference

21 September 2017

Miriam Stampfer

3

1 reference

21 September 2017

Jennifer Müller Vom Hagen

4

1 reference

21 September 2017

Peter Bauer

6

1 reference

21 September 2017

publication date

4 September 2015

1 reference

21 September 2017

1 reference

21 September 2017

volume

262

1 reference

21 September 2017

issue

11

1 reference

21 September 2017

page(s)

2557-2563

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-015-7889-y

21 September 2017

exact match

0 references

cites work

The autosomal recessive cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

The natural history of cerebellar degeneration of Niemann-Pick C mice monitored in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Effects of cyclodextrin in two patients with Niemann-Pick Type C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Characterizing POLG ataxia: clinics, electrophysiology and imaging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7889-Y

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26338816

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-015-7889-Y

1 reference

21 September 2017

1 reference