LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "primary mitochondrial" as a keyword



Research priorities for mitochondrial disorders: Current landscape and patient and professional views

Sign Up to like & get
recommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12521

Abstract: Primary mitochondrial disorders encompass a wide range of clinical presentations and a spectrum of severity. They currently lack effective disease‐modifying therapies and have a high mortality and morbidity rate. It is therefore essential to know… read more here.

Keywords: priorities mitochondrial; mitochondrial disorders; disease; primary mitochondrial ... See more keywords
Photo from wikipedia

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

Sign Up to like & get
recommendations! Published in 2021 at "Mitochondrion"

DOI: 10.1016/j.mito.2021.03.011

Abstract: Patients with mitochondrial diseases, who usually manifest a multisystem disease, are considered potentially at-risk for a severe coronavirus disease 2019 (COVID-19). The objective of this study is to analyze the clinical features, prognosis and outcomes… read more here.

Keywords: mitochondrial diseases; primary mitochondrial; patients primary; sars cov ... See more keywords
Photo from archive.org

Diagnosis of primary mitochondrial disorders -emphasis on myopathological aspects.

Sign Up to like & get
recommendations! Published in 2021 at "Mitochondrion"

DOI: 10.1016/j.mito.2021.09.007

Abstract: Mitochondrial disorders are one of the most common neurometabolic disorders affecting all age groups. The phenotype-genotype heterogeneity in these disorders can be attributed to the dual genetic control on mitochondrial functions, posing a challenge for… read more here.

Keywords: diagnosis primary; myopathological aspects; mitochondrial disorders; disorders emphasis ... See more keywords

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Sign Up to like & get
recommendations! Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-61735-3

Abstract: Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occurrence… read more here.

Keywords: pathology; wolfram syndrome; primary mitochondrial; mitochondrial dysfunction ... See more keywords

Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder.

Sign Up to like & get
recommendations! Published in 2023 at "Clinical chemistry"

DOI: 10.1093/clinchem/hvad037

Abstract: BACKGROUND Mitochondria are cytosolic organelles within most eukaryotic cells. Mitochondria generate the majority of cellular energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OxPhos). Pathogenic variants in mitochondrial DNA (mtDNA) and nuclear… read more here.

Keywords: mitochondrial testing; testing diagnosing; mitochondrial respiratory; primary mitochondrial ... See more keywords

Advances in primary mitochondrial myopathies.

Sign Up to like & get
recommendations! Published in 2019 at "Current Opinion in Neurology"

DOI: 10.1097/wco.0000000000000743

Abstract: PURPOSE OF REVIEW Although mitochondrial diseases impose a significant functional limitation in the lives of patients, treatment of these conditions has been limited to dietary supplements, exercise, and physical therapy. In the past few years,… read more here.

Keywords: mitochondrial myopathies; medicine; primary mitochondrial; advances primary ... See more keywords

Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation

Sign Up to like & get
recommendations! Published in 2024 at "European Journal of Clinical Investigation"

DOI: 10.1111/eci.14217

Abstract: Primary mitochondrial diseases (PMDs) are rare genetic disorders resulting from mutations in genes crucial for effective oxidative phosphorylation (OXPHOS) that can affect mitochondrial function. In this review, we examine the bioenergetic alterations and oxidative stress… read more here.

Keywords: primary mitochondrial; oxidative stress; stress neuroinflammation; mitochondrial diseases ... See more keywords

Neuroimaging of primary mitochondrial disorders in children: A review

Sign Up to like & get
recommendations! Published in 2022 at "Journal of Neuroimaging"

DOI: 10.1111/jon.12976

Abstract: Mitochondrial disorders represent a diverse and complex group of entities typified by defective energy metabolism. The mitochondrial oxidative phosphorylation system is typically impaired, which is the predominant source of energy production. Because mitochondria are present… read more here.

Keywords: energy; mitochondrial disorders; children review; neuroimaging primary ... See more keywords

COVID-19–Related Outcomes in Primary Mitochondrial Diseases

Sign Up to like & get
recommendations! Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000200240

Abstract: Background and Objectives To identify factors associated with severe coronavirus disease 2019 (COVID-19), defined by hospitalization status, in patients with primary mitochondrial diseases (PMDs), thereby enabling future risk stratification and informed management decisions. Methods We… read more here.

Keywords: mitochondrial diseases; status; primary mitochondrial; covid ... See more keywords

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

Sign Up to like & get
recommendations! Published in 2023 at "Neurology"

DOI: 10.1212/wnl.0000000000207402

Abstract: BACKGROUND AND OBJECTIVES Primary Mitochondrial Myopathies (PMMs) encompass a group of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely impacting physical function, exercise capacity, and quality of life (QoL). Current PMM standards-of-care address symptoms, with… read more here.

Keywords: trial; fatigue; efficacy; primary mitochondrial ... See more keywords

Primary Mitochondrial Disorders in the Neonate.

Sign Up to like & get
recommendations! Published in 2022 at "NeoReviews"

DOI: 10.1542/neo.23-12-e796

Abstract: Primary mitochondrial disorders (PMDs) are a heterogeneous group of disorders characterized by functional or structural abnormalities in the mitochondria that lead to a disturbance of cellular energy, reactive oxygen species, and free radical production, as… read more here.

Keywords: primary mitochondrial; pmds; disorders neonate; mitochondrial disorders ... See more keywords