Results 81 to 90 of about 1,049,137 (382)
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Astrocytes-associated research in Parkinson’s disease: an explored trends analysis
Frontiers in Aging NeuroscienceBackgroundParkinson’s disease (PD) is characterized pathologically by the degeneration of dopaminergic neurons and the formation of Lewy bodies. Among the various cellular and molecular mechanisms of PD, astrocyte dysfunction is one of the causes of ...
Yan-Jun Chen +4 more
doaj +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Mapping the research of mitochondria and Parkinson’s disease: a bibliometric analysis
Frontiers in NeurologyBackgroundParkinson’s disease (PD) is a chronic, progressive neurodegenerative disorder primarily affecting the elderly. Relevant studies suggest a significant connection between the mitochondria and PD.
Yan-Jun Chen +4 more
doaj +1 more source
Online Mendelian Inheritance In Man (OMIM)
Human Mutation, 2000 Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr.
A. Hamosh +4 more
semanticscholar +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Glutamate-associated research in Parkinson’s disease: a bibliometric analysis
Frontiers in Aging NeuroscienceBackgroundParkinson’s disease (PD) is a common neurodegenerative disease. As an important excitatory neurotransmitter, glutamate plays a key role in the nervous system.
Yan-Jun Chen +4 more
doaj +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Inheritance for software reuse: The good, the bad, and the ugly [PDF]
Inheritance is a powerful mechanism supported by object-oriented programming languages to facilitate modifications and extensions of reusable software components.
Eichmann, David A., Sitaraman, Murali
core +1 more source
Disjunctive Logic Programs with Inheritance
, 2001 The paper proposes a new knowledge representation language, called ...
Buccafurri, Francesco +2 more
core +1 more source