SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.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
Nordicum-Mediterraneum, 2013 Review of the book: T. Kue Young (senior ed.) and Rajiv Rawat, Winifred Dallmann, Susan Chatwood and Peter Bjerregaard (eds.), Circumpolar Health Atlas (Toronto: University of Toronto Press, 2012)
Rachael L. Johnstone
doaj
Pharmacological effects of two polar fractions from Annona coriacea Mart in animal models
, 2012 Orlando Vieira de Sousa
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Jupiter’s polar auroral bright spots as seen by Juno-UVS
, 2020 Kamolporn Haewsantati +3 more
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Suborbits of a point stabilizer in the orthogonal group on the last subconstituent of orthogonal dual polar graphs [PDF]
, 2011 Fenggao Li +3 more
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Modelling uncertainties with
, 2022 Muhammad Riaz +3 more
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Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih +40 more
wiley +1 more source
Mapping water content in drying Antarctic moss communities using UAS‐borne SWIR imaging spectroscopy
Remote Sensing in Ecology and ConservationAntarctic moss beds are sensitive to climatic conditions, and both their survival and community composition are particularly influenced by the availability of liquid water over summer.
Darren Turner +7 more
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Feasibility of polar-body PGD for thalassemia through a model of parthenogenetic activation [PDF]
, 2010 Alessio Paffoni +5 more
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Polar Circumtriple Planets and Disks Can Only Form Close to a Triple Star [PDF]
, 2023 S. Lepp +2 more
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