Results 161 to 170 of about 621,194 (302)

Mitochondrial DNA Modification in Assisted Reproduction: Concept to Practice-A Narrative Review. [PDF]

open access: yesInt J Mol Sci
Mohsin MM   +8 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons   +31 more
wiley   +1 more source

The persistence of potential: The life of Sir John B. Gurdon. [PDF]

open access: yesProc Natl Acad Sci U S A
Melton DA, De Robertis EM.
europepmc   +1 more source

Gene transfer techniques using AAV vectors

open access: yesJapanese Journal of Thrombosis and Hemostasis, 2008
openaire   +2 more sources

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman   +9 more
wiley   +1 more source

Molecular Pharming: Advances, Applications, and Future Prospects in Biotechnology and Medicine. [PDF]

open access: yesEng Life Sci
Ahmed MH   +13 more
europepmc   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett   +8 more
wiley   +1 more source

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