Results 91 to 100 of about 39,984 (208)
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 4, Page 551-553, April 2026.
Jakob Veeser +11 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 4, Page 551-553, April 2026.
Jakob Veeser +11 more
wiley +1 more source
Normal and impaired reflexive orienting of attention after central nonpredictive cues [PDF]
, 2009 Recent studies suggest that stimuli with directional meaning can trigger lateral shifts of visuospatial attention when centrally presented as noninformative cues.
Bonato, Mario +3 more
core +2 more sources
Balkan Journal of Medical Genetics, 2016 Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M +5 more
doaj +1 more source
Wearable Platform for Automatic Recognition of Parkinson Disease by Muscular Implication Monitoring [PDF]
, 2017 The need for diagnostic tools for the characterization of progressive movement disorders - as the Parkinson Disease (PD) - aiming to early detect and monitor the pathology is getting more and more impelling.
Annese, V.F. +4 more
core +1 more source
Cardiomyopathy of Unknown Etiology: Barth Syndrome Unrecognized
Congenital Heart Disease, 2008 This is a report of a child who died at 20 months from what was clinically thought to be cardiomyopathy of unknown etiology. Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia.
Robert T, Sweeney +2 more
openaire +2 more sources
Role of Cardiolipin in Mitochondrial Signaling Pathways
Frontiers in Cell and Developmental Biology, 2017 The phospholipid cardiolipin (CL) is an essential constituent of mitochondrial membranes and plays a role in many mitochondrial processes, including respiration and energy conversion.
Jan Dudek
doaj +1 more source
Phospholipid abnormalities in children with Barth syndrome
Journal of the American College of Cardiology, 2003 We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin ...
Schlame, Michael +8 more
openaire +3 more sources
UNERTAN SYNDROME: A CASE SERIES DEMONSTRTAING HUMAN DEVOLUTION [PDF]
, 2007 A large family with six individuals exhibiting the Unertan syndrome (UTS) was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities. The intra-familial marriages suggested that the UTS is
BAGCI, Dr. Namik Kemal +6 more
core
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
core