Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
An Engineering Equation of State: Square-Well Statistical Associating Fluid Theory (SAFT).
, 1999 Hertanto Adidharma
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Coulomb Interactions in the Equation of State [PDF]
, 1993 W. Stolzmann, T. Blöcker
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Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Peng-Robinson or Redlich-Kwong? Twu or Soave α-Function? Which Combination of Cubic Equation of State (CEoS) and α-Function Produces More Accurate and Consistent Results for Pure Components. [PDF]
ACS OmegaMohamed T, Kozinski J, Ramos-Pallares F.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Equation of State of Four- and Five-Dimensional Hard-Hypersphere Mixtures. [PDF]
Entropy (Basel), 2020 López de Haro M, Santos A, B Yuste S.
europepmc +1 more source
Consistent thermodynamic derivative estimates for tabular equations of state
, 2005 Gary A. Dilts
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RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno +13 more
wiley +1 more source
On the treatment of thermal effects in the equation of state on neutron star merger remnants [PDF]
Guerra, Davide +5 more
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