Results 121 to 130 of about 6,089,967 (287)

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 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 STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

Movement Disorders, EarlyView.
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci   +8 more
wiley   +1 more source

Barriers and accessibility‐improving strategies in mental health services for persons with hearing or vision impairments: Perspectives from professionals and clients—A qualitative interview study

Psychology and Psychotherapy: Theory, Research and Practice, EarlyView.
Abstract Objectives Despite studies showing that persons with hearing impairments (HI) or vision impairments (VI) have an increased risk of developing mental health disorders, mental health services frequently are not accessible and suited to the specific needs of both populations.
Bastian Hardt, Thomas Heidenreich, Christina Hunger‐Schoppe, Nele Adam, Julia Heinen, Joana Hopf, Axel Röhlig, Johannes Michalak   +7 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

Scientific Reports, 2020
We report on the validation of a mitochondrial gene therapeutic strategy using fibroblasts from a Leigh syndrome patient by the mitochondrial delivery of therapeutic mRNA.
Yuma Yamada, Kana Somiya, Akihiko Miyauchi, H. Osaka, H. Harashima   +4 more
semanticscholar   +1 more source

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, Marc O. Warmoes, Maria Lorena Cordero‐Maldonado, Ursula Heins‐Marroquin, Carole L. Linster   +6 more
wiley   +1 more source

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Genetics and Molecular Biology
Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome.
Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira, Luiza do A. Virmond, Marina de França B. Silva, Maria de Fatima F. Soares, Simone Brasil de O. Iglesias, Ariane Falconi, Juliana S. Silva, Viviane Nakano, Maria Fernanda Milanezi, Carmen Silvia C. Mendes, Marco Antonio Curiati, Cecília Micheletti   +13 more
doaj   +1 more source

Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case

The Pan African Medical Journal, 2015
Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome.
Leila Mnif1, Rim Sellami, Jawaher Masmoudi   +1 more
doaj   +1 more source

Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report

Archives of Academic Emergency Medicine, 2017
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi, Hossein Pakdaman, Mehran Arabahmadi, Behdad Behnam   +3 more
doaj   +1 more source