UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Single-Site Catalyst for the Synthesis of Disentangled Ultra-High-Molecular-Weight Polyethylene. [PDF]
Polymers (Basel)Chen J +6 more
europepmc +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Analysis of the Application Value of Low Molecular Weight Heparin Combined with Heparin in Patients with Chorionic Bump in Early Pregnancy. [PDF]
Int J Womens HealthPeng XT, Cai ZH, Shen J, Zhu HY.
europepmc +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Hydroxypropyl Cellulose Polymers as Efficient Emulsion Stabilizers: The Effect of Molecular Weight and Overlap Concentration. [PDF]
GelsCholakova D +5 more
europepmc +1 more source
Dual‐Phase C‐11 PiB PET Images for Detecting Tau Pathology in Cerebral Amyloid Angiopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Cerebral amyloid angiopathy (CAA) is a major cause of lobar intracerebral hemorrhage and cognitive dysfunction in the elderly, and frequently coexists with Alzheimer's disease and tau pathology. Dual‐phase 11C‐PiB PET detects amyloid deposition and cerebral perfusion changes and may have diagnostic value for identifying tau in CAA ...
Meng‐Ting Chiang +4 more
wiley +1 more source
Unravelling the Digestibility and Structure-Function Relationship of Lentil Protein Through Germination and Molecular Weight Fractionation. [PDF]
FoodsMirzapour-Kouhdasht A +4 more
europepmc +1 more source