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
Electronic Health Record Documentation of Psychiatric Assessments in Massachusetts Emergency Department and Outpatient Settings During the COVID-19 Pandemic [PDF]
, 2020 Víctor M. Castro, Roy H. Perlis
openalex +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
Electronic Health Records in Dentistry: Relevance, Challenges and Policy Directions. [PDF]
Int Dent JSchwendicke F +4 more
europepmc +1 more source
High Performance Implementation of the Hierarchical Likelihood for\n Generalized Linear Mixed Models. An Application to estimate the potassium\n reference range in massive Electronic Health Records datasets [PDF]
, 2019 Cristian H Bologa +8 more
openalex +1 more source
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
Electronic health records, the device paradigm, and the need for engagement. [PDF]
Philos Ethics Humanit MedLyon W.
europepmc +1 more source
Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato +5 more
wiley +1 more source
Incompleteness of Electronic Health Records: An Impending Process Problem Within Healthcare. [PDF]
Healthcare (Basel)Gurupur V +4 more
europepmc +1 more source