Results 111 to 120 of about 820,081 (239)
Sleep quality of traumatic brain injury patients in viet nam and correlated factors
Scientific ReportsTraumatic brain injury (TBI) is a major global public health problem, with a high burden of long-term sequelae that extend beyond acute survival and physical recovery.
Hai Minh Vu +14 more
doaj +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri +6 more
wiley +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators
Angewandte Chemie, EarlyView.The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia +20 more
wiley +2 more sources
Sleep disturbances in Parkinson's disease patients and management options
, 2011 Daniel O Claassen, Scott J KutscherDepartment of Neurology, Vanderbilt University, Nashville, TN, USAAbstract: Sleep disturbances are among the most common nonmotor complaints of patients with Parkinson's disease (PD), and can have a great impact
Kutscher SJ, Claassen DO
core
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
‘Shelter is a Dignity’: Rental Racism, Stress and Housing (In)justice
Australian Journal of Social Issues, EarlyView.ABSTRACT Australia's private rental sector is in crisis, and culturally and racially minoritised renters face compounded harms through both covert and everyday direct forms of rental racism. Drawing on five community‐based focus groups in Melbourne (n = 37), the paper explores how racism manifests across the rental pathway and how it structures the ...
Erika Martino +3 more
wiley +1 more source