Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Desordens temporomandibulares e dores orofaciais: uma abordagem sobre as dores polpar e periodontal
Este trabalho, orientado para o aluno iniciante em "Desordens temporomandibulares e dor oro-facial; Diagnóstico" foi elaborado para proporcionar uma parcela de informação revisada e atualizada em complementação a uma série de conferências sob o título de
Rejane Nunes, Eleutério A. Martins
doaj +9 more sources
O objetivo deste artigo, é mostrar que uma série de fatores psicossociais, físicos entre outros como o stress, a depressão, sono, obesidade, cirurgia bariátrica e outros, podem nos trazer problemas como disfunção temporomandibular e dor orofacial. Foram
JÉSSYCA BEATRIZ NEIRO SIQUINELLI +2 more
doaj
Descriptive Anatomy and Three-Dimensional Reconstruction of the Skull of the Early Tetrapod Acanthostega gunnari Jarvik, 1952 [PDF]
The early tetrapod Acanthostega gunnari is an iconic fossil taxon exhibiting skeletal morphology reflecting the transition of vertebrates from water onto land. Computed tomography data of two Acanthostega skulls was segmented using visualization software
Chan, HL +5 more
core +3 more sources
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Boundary interactions: Resolving interdisciplinary collaboration challenges using digitized embodied performances [PDF]
Little is known about the collaborative learning processes of interdisciplinary teams designing technology-enabled immersive learning systems. In this conceptual paper, we reflect on the role of digitally captured embodied performances as boundary ...
Abrahamson, D, Flood, VJ, Neff, M
core
Ontogeny of the osteocranium in the African catfish, Clarias gariepinus burchell (1822) (Siluriformes: Clariidae): Ossification sequence as a response to functional demands [PDF]
A
Adriaens, Dominique, Verraes, Walter
core +2 more sources
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Planar cell polarity genes Frizzled3a, Vangl2, and Scribble are required for spinal commissural axon guidance [PDF]
Background A fundamental feature of early nervous system development is the guidance of axonal projections to their targets in order to assemble neural circuits that control behavior.
Purdy, Ashley M. +2 more
core +2 more sources
Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US‐based skin assessments for their face validity (differentiation between involved SSc and healthy
Ruhani Desai +12 more
wiley +1 more source

