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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1966 1
1967 1
1968 3
1969 5
1970 7
1971 4
1972 10
1973 3
1974 1
1975 5
1976 6
1977 5
1978 4
1979 4
1981 1
1982 4
1983 3
1984 2
1985 4
1986 4
1987 6
1988 9
1989 9
1990 10
1991 17
1992 9
1993 9
1994 9
1995 14
1996 12
1997 14
1998 25
1999 23
2000 29
2001 31
2002 19
2003 36
2004 43
2005 35
2006 34
2007 34
2008 29
2009 30
2010 38
2011 38
2012 27
2013 45
2014 42
2015 42
2016 53
2017 37
2018 36
2019 56
2020 45
2021 35
2022 36
2023 38
2024 13

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1,058 results

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Page 1
Niemann-Pick type C disease: cellular pathology and pharmacotherapy.
Wheeler S, Sillence DJ. Wheeler S, et al. J Neurochem. 2020 Jun;153(6):674-692. doi: 10.1111/jnc.14895. Epub 2019 Nov 15. J Neurochem. 2020. PMID: 31608980 Free article. Review.
Niemann-Pick type C disease (NPCD) was first described in 1914 and affects approximately 1 in 150 000 live births. ...In this review, we focus on the intracellular events that drive the pathology of this disease. We first introduce endocytosis, a much-studied …
Niemann-Pick type C disease (NPCD) was first described in 1914 and affects approximately 1 in 150 000 live births. ...In this …
Tauopathies.
Kovacs GG. Kovacs GG. Handb Clin Neurol. 2017;145:355-368. doi: 10.1016/B978-0-12-802395-2.00025-0. Handb Clin Neurol. 2017. PMID: 28987182 Review.
Tauopathies are neurodegenerative disorders characterized by the deposition of abnormal tau protein in the brain. The spectrum of tau pathologies expands beyond the traditionally discussed disease forms like Pick disease, progressive supranuclear palsy …
Tauopathies are neurodegenerative disorders characterized by the deposition of abnormal tau protein in the brain. The spectrum of tau …
Types A and B Niemann-Pick disease.
Schuchman EH, Desnick RJ. Schuchman EH, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16. Mol Genet Metab. 2017. PMID: 28164782 Free PMC article. Review.
The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central …
The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam …
Niemann-Pick disease type C.
Vanier MT. Vanier MT. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Orphanet J Rare Dis. 2010. PMID: 20525256 Free PMC article. Review.
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120,000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenera …
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence …
Treatment trials in Niemann-Pick type C disease.
Sitarska D, Tylki-Szymańska A, Ługowska A. Sitarska D, et al. Metab Brain Dis. 2021 Dec;36(8):2215-2221. doi: 10.1007/s11011-021-00842-0. Epub 2021 Oct 1. Metab Brain Dis. 2021. PMID: 34596813 Free PMC article. Review.
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. ...The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to ani …
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. ...The aim of this p …
Phosphorylated Tau in Alzheimer's Disease and Other Tauopathies.
Rawat P, Sehar U, Bisht J, Selman A, Culberson J, Reddy PH. Rawat P, et al. Int J Mol Sci. 2022 Oct 25;23(21):12841. doi: 10.3390/ijms232112841. Int J Mol Sci. 2022. PMID: 36361631 Free PMC article. Review.
Alzheimer's disease (AD) is the leading cause of dementia in elderly people. Amyloid beta (Abeta) deposits and neurofibrillary tangles are the major pathological features in an Alzheimer's brain. ...This article presents a summary of the role of tau, phosphorylated …
Alzheimer's disease (AD) is the leading cause of dementia in elderly people. Amyloid beta (Abeta) deposits and neurofibrillary tangle …
The tauopathies.
Devi G. Devi G. Handb Clin Neurol. 2023;196:251-265. doi: 10.1016/B978-0-323-98817-9.00015-6. Handb Clin Neurol. 2023. PMID: 37620072 Review.
Primary tauopathies include Pick disease, corticobasal degeneration, progressive supranuclear palsy, and argyrophilic grain disease. ...The clinical presentation of tauopathies varies based on the brain areas affected, generally presenting with a combi …
Primary tauopathies include Pick disease, corticobasal degeneration, progressive supranuclear palsy, and argyrophilic grain …
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
McGovern MM, Avetisyan R, Sanson BJ, Lidove O. McGovern MM, et al. Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Orphanet J Rare Dis. 2017. PMID: 28228103 Free PMC article. Review.
Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 …
Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a …
Frontotemporal Dementia, Where Do We Stand? A Narrative Review.
Antonioni A, Raho EM, Lopriore P, Pace AP, Latino RR, Assogna M, Mancuso M, Gragnaniello D, Granieri E, Pugliatti M, Di Lorenzo F, Koch G. Antonioni A, et al. Int J Mol Sci. 2023 Jul 21;24(14):11732. doi: 10.3390/ijms241411732. Int J Mol Sci. 2023. PMID: 37511491 Free PMC article. Review.
Here, we aim to provide a state of the art on the pathogenesis of this disease, starting with established findings and integrating them with more recent ones. ...Of note, the promising information provided by neurophysiological investigations, i.e., electroencephalography …
Here, we aim to provide a state of the art on the pathogenesis of this disease, starting with established findings and integrating th …
Niemann-Pick disease, type C and Roscoe Brady.
Patterson MC, Walkley SU. Patterson MC, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):34-37. doi: 10.1016/j.ymgme.2016.11.008. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27923544 Review.
Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and B, Peter Pentchev, a senior scientist in the group, launched a series of investigations of an unusual lipid storage disease in a spontaneous mouse model. T …
Following Brady's discovery of the defect in acid sphingomyelinase in Niemann-Pick disease, types A and B, Peter Pentchev, a s …
1,058 results