Results 101 to 110 of about 21,902 (242)
Kinematic Features of Voluntary and Involuntary Head Movements in Cervical Dystonia
Movement Disorders, EarlyView.Abstract Background Cervical dystonia (CD) has a varied motor presentation, combining abnormal postures with complex involuntary head movements. Classification of these motor patterns remains imprecise, relying on descriptive terminology without robust definitions. Objectives To provide a kinematically‐grounded description of the motor phenomenology of
Thomas Hart +6 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard +33 more
wiley +1 more source
“Abductor Sparing”: A New Selective Involvement in ALS
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Various signs of selective muscle involvement have been reported in amyotrophic lateral sclerosis (ALS) but such studies for the lower limbs are scarce. We formed a preliminary impression that hip abductors (Ab) are often preserved in ALS.
Amuro Kondo +14 more
wiley +1 more source
Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports
Pediatric Anesthesia, EarlyView.ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley +1 more source
Cell Proliferation, EarlyView.CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Perspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. Abstract Aim To describe parental perspectives on how heatwaves and high ambient temperatures influence seizure ...
Angel Aledo‐Serrano +8 more
wiley +1 more source
Acute Post‐Partum Psychosis and Dystonia Reveals Late‐Onset MPAN
Movement Disorders Clinical Practice, EarlyView.
Mathilde Lachaume +7 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Pediatric paroxysmal non‐epileptic events (PNEs) are frequently misdiagnosed as epilepsy. We systematically reviewed and synthesized 40 studies, including 3123 video‐EEG monitored pediatric patients. Epileptic seizures in infants (1 month–3 years) typically presented as arrest, while in children and adolescents (1 month–21 years) they manifested as ...
Tímea Lőrincz‐Molnár +8 more
wiley +1 more source
Drug Design, Development and Therapy, 2018 Bingchen Lang,1 Lingli Zhang,1–3 Chunsong Yang,1 Yunzhu Lin,1 Wensheng Zhang,4 Fengshan Li1 1Department of Pharmacy, West China Second University Hospital, Sichuan University, Chengdu, People’s Republic of China; 2Key Laboratory of Birth ...
Lang B +5 more
doaj
Inborn errors of immunity in children with neuroinflammation
Developmental Medicine &Child Neurology, EarlyView.Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source