Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Conservation Science in Cultural Heritage, 2014 Salvatore Lorusso, Alberto Cassani
doaj +1 more source
Advances in Analytical Strategies to Study Cultural Heritage Samples-2nd Edition. [PDF]
MoleculesAstolfi ML, Sammartino MP.
europepmc +1 more source
Question of Parity Conservation in Weak Interactions [PDF]
, 1957 T. D. Lee, C. N. Yang
openalex +1 more source
A Citizen\u27s Guide to Protecting Greenland\u27s Water Resources, PREP & Greenland Conservation Commission [PDF]
, 2009 Greenland Conservation Commission
core +1 more source
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
Rodents of Chile: a brief appraisal of their conservation status and ecological significance. [PDF]
ZookeysHernández-Mazariegos WC +2 more
europepmc +1 more source
THE PRINCIPLE OF THE CONSERVATION OF ANGULAR MOMENTUM AS APPLIED TO ATMOSPHERIC MOTIONS
, 1920 H. W. CLOUGH
openalex +1 more source
A New Respiration Calorimeter and Experiments on the Conservation of Energy in the Human Body, II [PDF]
, 1899 W. O. Atwater, E. B. Rosa
openalex +1 more source