Results 151 to 160 of about 95,803 (361)
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Granular parakeratosis involving the dorsum of the hands; skin reactions due to irritant agents: A case report [PDF]
Mohammad Shariat Nia +2 more
openalex +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
Variations in Innervation Pattern to Dorsum of Foot by Medial Dorsal Cutaneous Nerve, Intermediate Dorsal Cutaneous Nerve, Lateral Dorsal Cutaneous Nerve with Surgical and Clinical Correlations: A Cadaveric Dissection Based Study [PDF]
Preeti Awari, P. Vatsalaswamy
openalex +1 more source
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
The bundle of twigs cartilage graft for augmentation of the nasal dorsum
Sérgio Moreira da Costa +4 more
openalex +1 more source
Post‐COVID Fatigue Is Associated With Reduced Cortical Thickness After Hospitalization
ABSTRACT Objective Neuropsychiatric symptoms are among the most prevalent sequelae of COVID‐19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID‐19. However, it currently remains poorly understood how brain changes relate to post‐COVID fatigue and cognitive deficits.
Tim J. Hartung +190 more
wiley +1 more source
The oral microbiome has a crucial role in nitric oxide (NO) production and contributes to oral and systemic health. This study compared oral microbiome composition and markers of NO production between highlytrained competitive athletes and inactive ...
Annabel Simpson +6 more
doaj +1 more source

