SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
QM/MM Study of the Reaction Mechanism of L-Tyrosine Hydroxylation Catalyzed by the Enzyme CYP76AD1. [PDF]
Sousa JPM, Ramos MJ, Fernandes PA.
europepmc +1 more source
Molecular basis of the reaction mechanism of the methyltransferase HENMT1. [PDF]
Kaldis P, Zhao LN.
europepmc +1 more source
Molecular Dynamics Simulation Model of Alkali Metal Reduction of Gaseous Halides and Reaction Mechanism Analysis. [PDF]
Zhang B +8 more
europepmc +1 more source
Synthesis of Multisubstituted 1,2,3-Triazoles: Regioselective Formation and Reaction Mechanism. [PDF]
Chi TC +7 more
europepmc +1 more source
Selective oxygen reduction reaction: mechanism understanding, catalyst design and practical application. [PDF]
Li S +5 more
europepmc +1 more source
A Study of the Reaction Mechanism for the j= l - 1/2 Transition in 66-Zn(d,p)67-Zn
E.J. Stephenson +10 more
openalex +1 more source
Related searches:
Volatile organic compounds (VOCs) harm the environment and human health and have been of wide concern and purified efficiently by catalytic oxidation. Spinel oxides, mainly composed of transition metal elements with low price and extensive sources, have ...
Cangpeng Shan +6 more
semanticscholar +1 more source
All-Liquid-Phase Reaction Mechanism Enabling Cryogenic Li-S Batteries.
ACS Nano, 2021The sluggish solid-solid conversion kinetics from Li2S4 to Li2S during discharge is considered the main problem for cryogenic Li-S batteries. Herein, an all-liquid-phase reaction mechanism, where all the discharging intermediates are dissolved in the ...
Zhenkang Wang +8 more
semanticscholar +1 more source

