Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
El feliz azar que marcó mi carrera en la literatura infantil y juvenil [PDF]
, 2013 1 archivo PDF (8 páginas)La autora demuestra la importancia que tuvo en su momento ser pionera en un tipo de compilación bibliográfica hasta entonces inexistente en la década de 1980 debido a que las críticas venían de diferentes disciplinas: fue ella ...
Hendrickson, Linnea +1 more
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Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Children’s and Adolescents’ Happiness and Family Functioning: A Systematic Literature Review [PDF]
, 2022 Flavia Izzo +2 more
openalex +1 more source
Gender Construction in Malaysian Children’s Literature [PDF]
, 2008 The present study explores the construction of gender in a selection of Malaysian children’s literature texts in the English language. An examination of the ways in which male and female social actors are constructed in these texts uncovers the subtle ...
S. Raman Nair, Ramesh Nair
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Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
How do multi-agency working and systems support children and families in accessing children’s centre provision? (Sharing our experience, Practitioner-led research 2008-2009; PLR0809/040) [PDF]
, 2009 This project looked at multi-agency working and systems in an inner city Sure Start Children’s Centre and asked how this way of working supported children and families identified as needing family support in accessing the centre provision.
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