Results 121 to 130 of about 3,349,140 (303)
Multivariable clinical-genetic model for predicting dyskinesia in early-onset Parkinson’s disease
Translational Neurodegeneration, 2021 Yong-Ping Chen +11 more
doaj +1 more source
IFLA Rare Books and Special Collections Section events at WLIC 2017
, 2017 The Rare Books and Special Collections Section invites you to join our programme of events during the Congress. Full details of each session are posted on the Congress website but this post gives a short summary. Get involved!
IFLA Rare Books & Special Collections Section
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Crystal structure, morphology and luminescent properties of rare earthion-doped SrHPO4 nanomaterials
, 2015 Undoped and rare earth ions (Eu3+, Ce3+, Tb3+) doped β-SrHPO4 nanomaterials were successfully prepared by a facile hydrothermal method. The crystal structure, morphology and luminescent properties were characterized by X-ray powder diffraction (XRD ...
Yu, M +7 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
IFLA Survey on Rare Materials Cataloguing with RDA
, 2019 Standardized cataloguing of rare materials has always been a complex matter, historically fragmented within geographical regions until the arrival in the 1980s of standardized models, such as ISBD and DCRM, which were quickly adopted internationally.
IFLA Rare Books & Special Collections Section
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, 2012 Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or perturbation in the copy number of dosage-sensitive genes.
Corpas, M. +8 more
core +1 more source
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
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations
Molecular Genetics & Genomic Medicine, 2022 Keri Ramsey +10 more
doaj +1 more source
Journal of NanobiotechnologyNeurodegenerative diseases (NDs) are progressive and incurable central nervous system disorders characterized by the accumulation of pathological proteins and the loss of neurons.
Nan Chen +4 more
doaj +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source