Directed evolution of enzymes at the crossroads of tradition and innovation
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova +2 more
wiley +1 more source
A tool to assess early motor skill development: A study of Danish health visitors’ practice
In Denmark, health visitors play a crucial role in identifying early motor skill difficulties. In 74 % of the Danish municipalities, they use a motor skill assessment tool for infants aged 9–11 months, consisting of evaluating nine motor milestones.
Marlene Rosager Lund Pedersen +4 more
doaj +1 more source
Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi +19 more
wiley +1 more source
Milestones in the child\u27s motor development [PDF]
Diplomsko delo z naslovom Mejniki v gibalnem razvoju otroka je sestavljeno iz teoretičnega in empiričnega dela. V teoretičnem delu so predstavljeni telesni razvoj, gibalni razvoj, faze in stopnje gibalnega razvoja, gibalni vzorci in gibalni stereotipi ...
Breznik, Andreja
core +1 more source
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Walk this way, Talk this way. Motor skills, spatial exploration, and the development of spatial cognition and language [PDF]
According to the ecological embodied cognition approach, cognition and language develop through real-time body-environment interactions. These ongoing interactions, in which children explore the environment, are the basis for the development of cognition
Leerstoel Leseman +2 more
core
Timing of motor milestones achievement and development of overweight in childhood:a study within the Danish National Birth Cohort [PDF]
WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT: The risk of childhood obesity is influenced by a number of pre- and post-natal factors. The risk of childhood obesity is correlated with body weight during infancy, which might be related to the psychomotor ...
Andersen, Anne-Marie Nybo +6 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Gross motor milestones in preterm infants: Correction for degree of prematurity
The age of gross motor milestone attainment and how it is affected by degree of prematurity at delivery were studied in 100 high-risk, preterm (less than 32 weeks) infants with normal motor outcome. We calculated the mean age of attainment for each milestone on the basis of chronologic age from the date of delivery and term age equivalent, correcting ...
M C, Allen, G R, Alexander
openaire +2 more sources
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source

