Results 141 to 150 of about 206,878 (242)

Local Non-Coding Regulatory Elements in Muscular Dystrophies

Muscular dystrophies are a class of diseases characterized by muscular weakness, breakdown, and heavily impaired function and quality of life. Numerous types of muscular dystrophies have been identified, with different causative genes and dystrophic ...
Sebastian Hernandez Rodriguez, Harry Wilton-Clark, Toshifumi Yokota   +2 more
core   +1 more source

Incidence of Childhood Dilated Cardiomyopathy in Sweden From 1991 to 2019: A National Population‐Based Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To study the incidence, survival, and mortality of dilated cardiomyopathy (DCM) in children in Sweden, 1991–2019. Methods Hospital records of 0–18‐year‐olds diagnosed with DCM over a 29‐year period were reviewed. The annual sex‐specific incidence rates of DCM were calculated as new disease cases, divided by the average Swedish same‐sex ...
Shalan Fadl, Stefan Särnblad, Tahir Taj, Håkan Wåhlander, Eva Fernlund, Jan Sunnegårdh   +5 more
wiley   +1 more source

Etiology and Pathogenesis of the Muscular-dystrophies

, 1995
Despite intensive research efforts, the cause of the muscular dystrophies has remained elusive for many decades. In the late 1980s, major advances in molecular genetics have led to the discovery of the dystrophin gene and its protein product, dystrophin.
Vandenbergh, PYK., Tome, FMS., Fardeau, M.   +2 more
core  

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Longitudinal speech and gross motor function development in children and adolescents with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Aim To examine longitudinal changes in speech and gross motor function in children with cerebral palsy (CP) between 4 years and 14 years of age using the Viking Speech Scale (VSS) and the Gross Motor Function Classification System (GMFCS). Method In this longitudinal observational study, 44 children (26 male, 18 female) with CP were assessed at ages 4 ...
Sydney A. Jensen, Katherine C. Hustad
wiley   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

Autism spectrum disorder assessment in cerebral palsy and other early‐onset motor conditions: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map diagnostic procedures and standardized instruments reportedly used to identify autism spectrum disorder (ASD) in people with cerebral palsy or other early‐onset motor conditions (EOMC) including Rett syndrome and muscular dystrophy.
Olga Laporta‐Hoyos, Marina Fernández‐Andújar, Lee Reid, Marta Oporto‐Alonso, Júlia Ballester‐Plané, América Carrascal‐Zuluaga, María Gutiérrez‐del Hoyo, Jacqui Ferraiolo, Magnus Påhlman, Kate Himmelmann, Somer Bishop, Roser Pueyo   +11 more
wiley   +1 more source

TRIM32 controls timely cell cycle exit in muscular differentiation through downregulation of c‐Myc mRNA

The FEBS Journal, EarlyView.
Trim32 regulates the transition from proliferation to differentiation in C2C12 cells after myogenic induction. We found that, at the onset of differentiation, Trim32 destabilizes c‐Myc mRNA, promotes cell cycle exit, and enables normal myotube formation.
Lu Xiong, Elisa Lazzari, Sabrina Pacor, Simeone Dal Monego, Erica Piovesan, Danilo Licastro, Germana Meroni   +6 more
wiley   +1 more source

Aire and Fezf2 Shape the Medullary Thymic Epithelial Cell Immunopeptidome for Central Tolerance

Immunology, EarlyView.
Central tolerance is shaped not merely by promiscuous gene expression in medullary thymic epithelial cells (mTECs), but by the subset of self‐peptides ultimately presented on MHC class II molecules. We propose a multilayered framework in which AIRE/Aire and FEZF2/Fezf2, together with specialised differentiation programmes—including thymic mimetic‐cell ...
Geraldo Aleixo Passos, Vitor Marcel Faça, Eduardo Antonio Donadi, Ana Paula Masson, Carlos Crippa Coletto, Gustavo Ronconi Roza   +5 more
wiley   +1 more source