Results 131 to 140 of about 6,089,967 (287)
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]
, 2016 The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina +8 more
core +2 more sources
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen +7 more
wiley +1 more source
Enabling conditions for conservation on Indigenous and community lands
Conservation Biology, Volume 40, Issue 1, February 2026.Abstract Despite increasing evidence and general acceptance in global environmental policy of the significant role of Indigenous Peoples and local communities (IP&LC) in biodiversity conservation and climate change mitigation, an implementation gap remains between global policy and how conservation plays out on the ground.
Stephanie Brittain +3 more
wiley +1 more source
Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards
, 2023 Parag Shiralkar +3 more
openalex +1 more source
Acute military psychiatric casualties from the war in Iraq [PDF]
, 2005 Background: The view that most military personnel evacuated from war zones are suffering from combat stress reactions, or are otherwise traumatised by the horrors of war, has an impact on all aspects of military psychiatry.
Andrew G. McKechanie +10 more
core +1 more source
Social Frailty in Heart Failure: Concept, Impact and Preventive Strategies
Journal of Advanced Nursing, Volume 82, Issue 2, Page 1819-1826, February 2026.ABSTRACT Aims To explore the conceptualisation of social frailty and discuss its role in shaping the disease trajectory of heart failure. Based on the discussion, recommendations on how to prevent and manage social frailty in this clinical cohort are delineated. Design A discursive paper.
Miao Miao +2 more
wiley +1 more source
Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review
Journal of Central Nervous System Disease, 2017 Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3 ) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms.
Majid Alfadhel
doaj +1 more source
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Emergency, 2016 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 +3 more
doaj +1 more source
Mitochondrial Proteome of Affected Glutamatergic Neurons in a Mouse Model of Leigh Syndrome [PDF]
, 2020 Alejandro Gella +7 more
openalex +1 more source
, 2005 Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos +1 more
core +2 more sources