(Q51909069)

17 April 2018

title

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. (English)

1 reference

17 April 2018

1 reference

B Klarner

1

1 reference

17 April 2018

H H Klünemann

2

1 reference

17 April 2018

R Lürding

3

1 reference

17 April 2018

C Aslanidis

4

1 reference

17 April 2018

R Rupprecht

5

1 reference

17 April 2018

publication date

11 December 2006

1 reference

17 April 2018

Journal of Inherited Metabolic Disease

published in

1 reference

17 April 2018

volume

30

1 reference

17 April 2018

issue

1

1 reference

17 April 2018

page(s)

60-67

1 reference

17 April 2018

https://scigraph.springernature.com/pub.10.1007/s10545-006-0417-6

exact match

0 references

cites work

Cognitive status correlates with neuropathologic stage in Parkinson disease.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0417-6

A clinical staging classification for type C Niemann-Pick disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0417-6

Therapy of Niemann-Pick disease, type C.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-006-0417-6

Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease

21 January 2018

1 reference

12 December 2020

Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C.

1 reference

12 December 2020

AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease

1 reference

12 December 2020

AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease

1 reference

12 December 2020

Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells

1 reference

12 December 2020

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

1 reference

12 December 2020

Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)

1 reference

12 December 2020

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

1 reference

12 December 2020

Gender- and age-specific changes in motor speed and eye-hand coordination in adults: normative values for the Finger Tapping and Grooved Pegboard Tests

1 reference

12 December 2020

Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice.

1 reference

12 December 2020

10.1007/S10545-006-0417-6

Identifiers

DOI

1 reference

17 April 2018

PubMed ID

17160616

1 reference

17 April 2018