Results 161 to 170 of about 1,763,065 (324)
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
Recurrence of Leio-Myo-Sarcoma of the Uterus in the Cervical Stump [PDF]
W. G. Barnard
openalex +1 more source
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah+4 more
wiley +1 more source
Hypopharyngeal Carcinoma Treated by Deep X-Rays. Freedom from Recurrence for Four Years [PDF]
W. M. Mollison
openalex +1 more source
Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang+5 more
wiley +1 more source
Epithelioma of Left Vocal Cord; Thyrotomy; Recurrence; Extirpation of Left Half of Larynx; Lasting Cure [PDF]
Felix Semon
openalex +1 more source
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang+11 more
wiley +1 more source
27-Day Recurrence of Cosmic-Ray Intensity at the Minimum Solar Activity
Masahiro Kodama
openalex +2 more sources
Recurrence of the tonsil after operation—F. E. hopkins—N Y. Med. Journal, December 2, 1899 [PDF]
Lederman
openalex +1 more source
Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu+13 more
wiley +1 more source