ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Doomed to drown? Sediment dynamics in the human-controlled floodplains of the active Bengal Delta
The Ganges-Brahmaputra-Meghna (Bengal) Delta in Bangladesh has been described as a delta in peril of catastrophic coastal flooding because sediment deposition on delta plain surfaces is insufficient to offset rates of subsidence and sea level rise ...
Kimberly G. Rogers, Irina Overeem
doaj +1 more source
Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer +14 more
wiley +1 more source
Membrane‐bound delta‐like 1 homolog (Dlk1) promotes while soluble Dlk1 inhibits myogenesis in C2C12 cells [PDF]
Sangsu Shin +3 more
openalex +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein +13 more
wiley +1 more source
Estimating flooded area and mean water level using active and passive microwaves: the example of Paraná River Delta floodplain [PDF]
M. Salvia +7 more
openalex +1 more source
Entre las dos orillas: imaginarios rosarinos en torno al Delta del Paraná (siglos XIX, XX y XXI)
La ciudad de Rosario, provincia de Santa Fe, Argentina, surge y se desarrolla junto a la ribera occidental del río Paraná y, a pesar de la cercanía con la orilla oriental ubicada a 60 km de distancia, en jurisdicción de Entre Ríos, hasta el siglo XXI la ...
Bibiana Ponzini +2 more
doaj
Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa +10 more
wiley +1 more source

