Pick's Disease Presenting as Tremulous Parkinsonism with Limited Levodopa Response—A Rare Cause of Corticobasal Syndrome
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.14125
Abstract: Corticobasal syndrome is a clinical diagnosis and common pathological causes are corticobasal degeneration, progressive supranuclear palsy and Alzheimer's disease. read more here.
Keywords: presenting tremulous; corticobasal syndrome; pick disease; corticobasal ... See more keywords
Ordered Assembly of Tau Protein and Neurodegeneration.
Sign Up to like & getrecommendations! Published in 2019 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-32-9358-8_1
Abstract: Tau filaments with distinct morphologies and/or isoform compositions underlie a large number of human neurodegenerative diseases. Their formation is important, because dominantly inherited mutations in MAPT, the tau gene, cause frontotemporal dementia with abundant filamentous… read more here.
Keywords: tau; amino acids; tau filaments; disease ... See more keywords
Niemann-Pick disease type C in the newborn period: a single-center experience
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-017-3020-y
Abstract: AbstractNiemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between… read more here.
Keywords: npc; period; newborn period; pick disease ... See more keywords
Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1
Sign Up to like & getrecommendations! Published in 2019 at "CNS Drugs"
DOI: 10.1007/s40263-019-00642-2
Abstract: BackgroundNiemann-Pick disease, type C1 (NPC1) is a neurodegenerative condition that arises from mutations of NPC1 and is often diagnosed in children. Recently, several drug trials have been implemented to minimize neurodegeneration, including a trial of… read more here.
Keywords: hydroxypropyl; disease; vts 270; type ... See more keywords
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Sign Up to like & getrecommendations! Published in 2019 at "Annals of hepatology"
DOI: 10.1016/j.aohep.2018.12.004
Abstract: INTRODUCTION AND AIM Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4-0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1.… read more here.
Keywords: variant; carrier; pick disease; niemann pick ... See more keywords
Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of pharmacology"
DOI: 10.1016/j.ejphar.2021.173907
Abstract: Niemann-Pick disease type C (NPC) is caused by a loss of function of either NPC1 or NPC2 protein, resulting in the accumulation of unesterified, free-cholesterol (free-C) in cells/tissues and thus leading to cell/tissue damage. In… read more here.
Keywords: npc1 null; type npc; cholesterol; pick disease ... See more keywords
Recent advances in the treatment of niemann pick disease type c: a mini-review.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pharmaceutics"
DOI: 10.1016/j.ijpharm.2020.119440
Abstract: Niemann Pick disease Type C (NPC) is a recessive rare disease caused by the mutation on NPC1 and/or NPC2 genes changing the processing of the Low-density proteins (LDL) resulting in an accumulation of lipids in… read more here.
Keywords: treatment; disease; pick disease; disease type ... See more keywords
Niemann-Pick disease, type C and Roscoe Brady.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2016.11.008
Abstract: The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in the 1960s. Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and… read more here.
Keywords: roscoe brady; disease; pick disease; disease type ... See more keywords
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.11.005
Abstract: Niemann-Pick C disease (NPC) is a lysosomal disease caused by mutations in NPC1 or NPC2 genes responsible for intracellular accumulation of free cholesterol and glycosphingolipids in a variety of tissues. We collected plasma samples from… read more here.
Keywords: lipidomic analysis; analysis; disease; comprehensive targeted ... See more keywords
Three-Dimensional Imaging of Whole-Body Zebrafish Revealed Lipid Disorders Associated with Niemann-Pick Disease Type C1.
Sign Up to like & getrecommendations! Published in 2021 at "Analytical chemistry"
DOI: 10.1021/acs.analchem.1c00196
Abstract: Imaging of lipids of whole-body specimens in two-dimensional (2D) analysis provides a global picture of the lipid changes in lipid-disturbed diseases, enabling a better understanding of lipid functions and lipid-modulation processes in different organs. However,… read more here.
Keywords: three dimensional; body zebrafish; whole body; pick disease ... See more keywords
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00898-7
Abstract: Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age… read more here.
Keywords: niemann pick; variant; disease type; pick disease ... See more keywords