Results 81 to 90 of about 30,962 (231)
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]
, 2005 In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc +5 more
core +1 more source
Narcolepsy and rapid eye movement sleep
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini +4 more
wiley +1 more source
A clinical case of adult onset Niemann–Pick disease type C
Неврология, нейропсихиатрия, психосоматика, 2016 The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
E. V. Saifullina +6 more
doaj +1 more source
Experimental Physiology, EarlyView.Abstract The aim of this systematic review and meta‐analysis was to evaluate comprehensively the therapeutic potential of Abelmoschus esculentus (okra) supplementation across the diabetes spectrum of key metabolic risk factors. A search was conducted in PubMed, Scopus, Web of Science, EMBASE and the Cochrane Library, up to 23 July 2025, to identify ...
Ali Jafari +7 more
wiley +1 more source
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]
, 2018 Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico +10 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Journal of Medical Case Reports, 2018 Background Niemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B.
Abedelmajeed Nasereddin, Suheir Ereqat
doaj +1 more source
Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]
, 2019 In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon +7 more
core +2 more sources
eFood, Volume 7, Issue 3, June 2026.Cubebene‐related sesquiterpenes, found across diverse biological sources, exhibit promising pharmacological activities, including anti‐inflammatory, neuroprotective, and anticancer effects. This review highlights their molecular diversity, ADME profiles, and predicted multitarget interactions, underscoring their therapeutic relevance and potential in ...
Khadija Boualam +4 more
wiley +1 more source
Niemann-pick disease type A-a case report [PDF]
, 2017 Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase.
Bindu, Rajan +4 more
core +2 more sources