The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2016.4506
Abstract: Genetic diagnostics have undergone a revolution in the last decade, fueled by technological advances heralded by the development of massively parallel DNA sequencing. Within a remarkably short time, the new chemistry moved from the research… read more here.
Keywords: neurology; medicine; respiratory chain; diagnosis ... See more keywords
Research priorities for mitochondrial disorders: Current landscape and patient and professional views
Sign Up to like & getrecommendations! 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
Nephrotic syndrome and mitochondrial disorders: Questions
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Nephrology"
DOI: 10.1007/s00467-019-04216-8
Abstract: In 2005, we reported on three patients in whom we suspected a nephrotic syndrome (NS) of mitochondrial origin [1]. Patients 2 and 3 died soon after birth due to a cardiogenic shock. The first patient… read more here.
Keywords: syndrome mitochondrial; mitochondrial disorders; disorders questions; life ... See more keywords
Headache in mitochondrial disorders
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2018.01.020
Abstract: Headache is a prominent feature in mitochondrial disorders (MIDs) but no comprehensive overview is currently available. This review aims at summarising and discussing findings concerning type, frequency, pathogenesis, and treatment of headache in MIDs. The… read more here.
Keywords: migraine; mitochondrial disorders; treatment; headache mids ... See more keywords
Rapamycin administration is not a valid therapeutic strategy for every case of mitochondrial disease
Sign Up to like & getrecommendations! Published in 2019 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2019.03.025
Abstract: Background The vast majority of mitochondrial disorders have limited the clinical management to palliative care. Rapamycin has emerged as a potential therapeutic drug for mitochondrial diseases since it has shown therapeutic benefits in a few… read more here.
Keywords: mitochondrial disorders; rapamycin administration; mitochondrial disease; rapamycin ... See more keywords
Diagnosis of primary mitochondrial disorders -emphasis on myopathological aspects.
Sign Up to like & getrecommendations! 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
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.07.004
Abstract: Despite recent advances in the elucidation of etiology and pathogenesis of mitochondrial disorders, their therapeutic management remains challenging. This review focuses on currently available therapeutic options for human mitochondrial disorders. Current treatment of mitochondrial disorders… read more here.
Keywords: human mitochondrial; mitochondrial disorders; deficiency; therapeutic management ... See more keywords
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical genetics"
DOI: 10.1111/cge.14061
Abstract: Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially… read more here.
Keywords: disorders large; mitochondrial disorders; clinical prediction; cohort ... See more keywords
Neuroimaging of primary mitochondrial disorders in children: A review
Sign Up to like & getrecommendations! 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
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107644
Abstract: Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission Deborah Tolomeo, Anna Rubegni, Claudia Nesti, Melissa Barghigiani, Roberta Battini, Francesca D’Amore, Stefano Doccini, Maria Alice Donati, Daniele Galatolo, Sabrina Giglio, Silvia Guarducci, Marilena… read more here.
Keywords: learning massive; disorders upd; mitochondrial disorders; testing mitochondrial ... See more keywords
Primary Mitochondrial Disorders in the Neonate.
Sign Up to like & getrecommendations! 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