Results 61 to 70 of about 15,339 (211)

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation

Molecular Genetics and Metabolism Reports, 2016
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy.
Miguel Chuquilin, Raghav Govindarajan, Dawn Peck, Esperanza Font-Montgomery   +3 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

MR spectroscopy of the brain in Leigh syndrome.

, 2008
Contains fulltext : 69088.pdf (Publisher’s version ) (Closed access)Brain magnetic resonance spectroscopy in two patients with Leigh syndrome revealed the presence of lactate in gray and white matter brain tissue and relatively high ...
Rodiger, L.A., Lunsing, R.J., Smit, G.P., Rodenburg, R.J.T., Rodenburg, R. J., Sijens, P.E., Smit, G. P. A., Lunsing, R. J., Oudkerk, M., Rodiger, L. A., van Spronsen, F. J., Oudkerk, M.; id_orcid, Spronsen, F.J. van, Sijens, P. E.   +13 more
core   +1 more source

Leigh Syndrome: A Rare Mitrochondrial Disorder

, 2018
Leigh syndrome is a rare inherited neurometabolic subacute necrotizing encephalopathy mostly involving brainstem and basal ganglia, seen in the early childhood.
Archana Shrestha Yadav, Gopen Kumar Kundu, CA Kawser, Mahbub Mutanabbi   +3 more
core   +1 more source

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism

The Journal of Clinical Investigation
Leigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of life. In 2020, mutations in the gene encoding sulfide:quinone oxidoreductase (SQOR), a mitochondrial protein, were identified ...
Eiki Kanemaru, Kakeru Shimoda, Eizo Marutani, Masanobu Morita, Maria Miranda, Yusuke Miyazaki, Claire Sinow, Rohit Sharma, Fangcong Dong, Donald B. Bloch, Takaaki Akaike, Fumito Ichinose   +11 more
doaj   +1 more source

A rare mitochondrial disorder: Leigh sydrome - a case report

Italian Journal of Pediatrics, 2010
Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable.
Shrikhande Dhananjay Y, Kalakoti Piyush, Syed MM Aarif, Ahya Kunal, Singh Gurmeet   +4 more
doaj   +1 more source

Law enforcement policies for individuals with intellectual and developmental disabilities: A mixed‐methods analysis

Criminology &Public Policy, EarlyView.
Abstract Research Summary Individuals with intellectual and developmental disabilities (IDDs) face an elevated risk of victimization relative to their peers. Victims with IDD may view police departmental websites or policies to identify available accommodations in deciding to report their experience. The current study employs a convergent mixed‐methods
Cooper A. Maher, Brittany E. Hayes, Martha McCullough, Jacquelyn Burckley, Ráchael A. Powers, Amanda K. Simmons, Leigh Anne McKingsley   +6 more
wiley   +1 more source

Genetic Diversity and Impacts of Stocking on Cyprinus carpio Populations in Türkiye: Insights From Mitochondrial, Nuclear, and Microsatellite Markers

Fisheries Management and Ecology, EarlyView.
ABSTRACT Understanding genetic diversity and population structure is essential for the sustainable management of widely stocked freshwater species such as common carp (Cyprinus carpio). In this study, we conducted a comprehensive genetic assessment of C.
Meryem Cansu Yesiltaş, Rafet Çağrı Öztürk, Emre Keskin, Ilhan Altinok   +3 more
wiley   +1 more source

Maternally inherited leigh syndrome: An unusual cause of infantile apnea

, 2010
Introduction Leigh Syndrome is an uncommon cause of infantile apnea.Case summary We report a 5-month-old girl with suddenrespiratory arrest followed by episodic hyper- and hypoventilation,encephalopathy, and persistent lactic acidosis.Computed tomography
Tong, SF, Siu, WK, Kwok, KL, Lam, CW, Chan, YW, Chau, CSK, Ng, DK, Yuen, YP   +7 more
core   +1 more source