Results 151 to 160 of about 2,797,259 (404)
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
Primary Parotid Angiosarcoma in a 66-year-old Man First Presented as Neck Lymph Node Metastasis: Pitfall Diagnosis with Review of Literature [PDF]
Shokouh Taghipour Zahir +3 more
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
SIMULATION OF THE COALESCENCE PROCESS OF GOLD NANOPARTICLES BY MONTE-CARLO METHOD [PDF]
The simulation of the coalescence process of gold nanoparticles for different initial configuration by Monte-Carlo method was carried out. The interaction between nanoparticles was described by many-body Gupta potential.
A.Yu. Kolosov +5 more
doaj
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Platinum-based chemotherapy plus cetuximab in head and neck cancer.
J. Vermorken +17 more
semanticscholar +1 more source
3D printing of patient-specific neck splints for the treatment of post-burn neck contractures [PDF]
Dafydd O. Visscher +7 more
openalex +1 more source
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source

