(Q39124159)

9 September 2017

Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. (English)

1 reference

9 September 2017

Hans H Klünemann

1

1 reference

9 September 2017

Milan Elleder

2

1 reference

9 September 2017

Wolfgang E Kaminski

3

1 reference

9 September 2017

Karen Snow

4

1 reference

9 September 2017

Janis M Peyser

5

1 reference

9 September 2017

John F O'Brien

6

1 reference

9 September 2017

David Munoz

7

1 reference

9 September 2017

Gerd Schmitz

8

1 reference

9 September 2017

Helmfried E Klein

9

1 reference

9 September 2017

William W Pendlebury

10

1 reference

9 September 2017

1 December 2002

1 reference

9 September 2017

1 reference

9 September 2017

52

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9 September 2017

6

1 reference

9 September 2017

743-749

1 reference

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

9 September 2017

1 reference

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

21 January 2018

1 reference

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

21 January 2018

1 reference

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

21 January 2018

1 reference

Identification of HE1 as the second gene of Niemann-Pick C disease

21 January 2018

1 reference

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

21 January 2018

1 reference

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene

21 January 2018

1 reference

Niemann-Pick disease type C. Study on the nature of the cerebral storage process.

21 January 2018

1 reference

Electron Microscopy of Storage Cytosomes in Kufs' Disease

21 January 2018

1 reference

Kufs' disease: a critical reappraisal

21 January 2018

1 reference

Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)

21 January 2018

1 reference

Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature

21 January 2018

1 reference

Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C.

21 January 2018

1 reference

Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C

21 January 2018

1 reference

Adult Niemann-Pick disease type C mimicking features of multiple sclerosis

21 January 2018

1 reference

Clinical spectrum of Niemann-Pick disease type C.

21 January 2018

1 reference

Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.

21 January 2018

1 reference

Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study.

21 January 2018

1 reference

Neurofibrillary tangles in Niemann-Pick disease type C.

21 January 2018

1 reference

Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease

21 January 2018

1 reference

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

21 January 2018

1 reference

Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease

21 January 2018

1 reference

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

21 January 2018

1 reference

Clinical Aspects of Niemann-Pick Type C Disease in the Adult

21 January 2018

1 reference

21 January 2018

1 reference

Niemann-Pick disease type C with enhanced glycolipid storage

21 January 2018

1 reference

Neurofibrillary tangles in Niemann-Pick disease type C

21 January 2018

1 reference

Niemann-Pick disease type C in a middle-aged woman

21 January 2018

1 reference

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

21 January 2018

1 reference

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10366

1 reference

9 September 2017

1 reference