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White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

M Scheel, M Abegg, LJ Lanyon, A Mattman… - Neurology, 2011 - AAN Enterprises
We investigated white matter microstructural integrity in an adult patient with Niemann-Pick disease
type C (NPC) and compared this to an age-matched healthy control group. 2 We used an advanced
DTI protocol in a 3-T MRI scanner and the same voxel-based analysis tools described by ...
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Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C.

S Zhou, C Davidson, R McGlynn… - The American journal …, 2011 - ncbi.nlm.nih.gov
Niemann-Pick disease type C (NPC) is a severe neurovisceral lysosomal storage disorder caused
by defects in NPC1 or NPC2 proteins. Although numerous studies support the primacy of cholesterol
storage, neurons of double-mutant mice lacking both NPC1 and an enzyme required for ...
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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

X Jiang, R Sidhu, FD Porter, NM Yanjanin… - Journal of Lipid …, 2011 - ASBMB
Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative disease
for which there are no FDA-approved therapies. A major barrier to developing new therapies
for this disorder has been the lack of a sensitive and noninvasive diagnostic test. ...
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Clinical phenotypes in autopsy-confirmed Pick disease

O Piguet, GM Halliday, WGJ Reid, B Casey… - Neurology, 2011 - AAN Enterprises
Background: Neuropathology of frontotemporal lobar degeneration is variable and relationship
between the pathology and the clinical presentation remains uncertain. Abnormal deposits of
hyperphosphorylated and ubiquitinated tau protein are present in 30% of cases, which ...
Cited by 4 - Related articles - All 3 versions

ZOOM: Observational genetic screening study of Niemann-Pick Disease Type C in adults with neurological and psychiatric signs

M Patterson, P Bauer, H Klunemann, F Sedel… - 2011 - discovery.ucl.ac.uk
... ZOOM: Observational genetic screening study of Niemann-Pick Disease Type C in adults with
neurological and psychiatric signs. ... Title: ZOOM: Observational genetic screening study of
Niemann-Pick Disease Type C in adults with neurological and psychiatric signs. ...
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