Role of Mitochondrial Cytochrome P450 2E1 in Healthy and Diseased Liver [PDF]
, 2022 Julie Massart +3 more
openalex +1 more source
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
Proteomic Landscape of Sweat Glands in Neuronal Intranuclear Inclusion Disease Reveals a Pathogenic Triad of Abnormal Autophagy, Mitochondrial Dysfunction, and a Failed Oxidative Stress Response [PDF]
An Wang +10 more
openalex +1 more source
The GRK2 Overexpression Is a Primary Hallmark of Mitochondrial Lesions during Early Alzheimer Disease [PDF]
, 2009 Mark E. Obrenovich +4 more
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An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Beyond the cochlea: exploring the multifaceted nature of hearing loss in primary mitochondrial diseases [PDF]
Nehzat Koohi +9 more
openalex +1 more source
Dissecting the Crosstalk between Endothelial Mitochondrial Damage, Vascular Inflammation, and Neurodegeneration in Cerebral Amyloid Angiopathy and Alzheimer’s Disease [PDF]
, 2021 Rebecca Parodi‐Rullán +2 more
openalex +1 more source
Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle +11 more
wiley +1 more source