Results 61 to 70 of about 41,376 (260)
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
The Turkish Journal of Gastroenterology, 2011 The hyperimmunoglobulinemia D and periodic fever syndrome is proposed to be caused by a defect in the activity of mevalonate kinase enzyme which is involved in cholesterol and non-sterol isoprenoid biosynthesis.
Elif KARAKOÇ-AYDINER +5 more
doaj
The Genetic Basis for Periodic Fever [PDF]
The American Journal of Human Genetics, 1999 The periodic-fever syndromes are a genetically heterogeneous group of inflammatory disorders characterized by recurrent fever, abdominal pain, and polyserositis. The clinically distinct entities of familial Mediterranean fever (FMF; MIM 249100) and hyperimmunoglobulinemia D with periodic fever (MIM 260920) are autosomal recessive and genetically ...
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To describe long‐term outcomes after anti‐CD20 discontinuation in selected patients with secondary progressive multiple sclerosis (SPMS) who remained without subsequent disease‐modifying therapy (DMT). Methods We retrospectively analyzed data from four centers in Austria and Switzerland.
Ferdinand Otto +12 more
wiley +1 more source
Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi +7 more
wiley +1 more source
TRAPS: An Autosomal Dominant Autoinflammatory Syndrome
Eurasian Journal of Medicine, 2019 Hereditary periodic fever syndromes are genetic autoinflammatory disorders characterized by recurrent attacks of fever and inflammation. These diseases include familial Mediterranean fever (FMF), Tumor necrosis factor receptor-associated periodic ...
Saliha Karatay, Meltem Alkan Melikoğlu
doaj
A Case of Hyper IgD and Periodic Fever Syndrome in Japan
Clinical Medicine Insights: Case Reports, 2008 We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan.
Hisashi Kawashima M.D.,Ph.D. +7 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine whether discontinuing anti‐CD20 therapy in people with relapsing‐onset MS aged over 50 is associated with an increased risk of relapse, inflammatory activity, confirmed disability accrual, and serious infection compared with continuing therapy.
Alexia Moukhine +40 more
wiley +1 more source