Short-term course of the neuropsychological profile in myotonic dystrophy type 1: a 12-month longitudinal study. [PDF]
BMC NeurolFortin J +4 more
europepmc +1 more source
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
Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to <i>CRB1</i>: Implications for Clinical Trials. [PDF]
Comput Struct Biotechnol JStäubli KE +6 more
europepmc +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 +5 more
wiley +1 more source
Genetic analysis of TGFBI variants in the Taiwanese population: from granular corneal dystrophy type 1 to a broader phenotypic spectrum. [PDF]
Am J Transl ResHan YS, Wu YF, Chen YL, Hung DK.
europepmc +1 more source
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 +8 more
wiley +1 more source
A Case Series of Familial Macular Drusen: Clinical, Imaging, and Diagnostic Considerations in the Spectrum Between Age-Related Macular Degeneration (AMD) and Other Macular Disorders. [PDF]
CureusFaustine G, Bastion MC.
europepmc +1 more source
Inborn errors of immunity in children with neuroinflammation
Developmental Medicine &Child Neurology, EarlyView.Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source
Prominin-1 and Retinal Degenerative Disorders: Expanding the Biology from Photoreceptors to the Retinal Pigment Epithelium. [PDF]
BiomoleculesBhattacharya S +4 more
europepmc +1 more source
The FEBS Journal, EarlyView.Exercise‐related microRNAs cel‐miR‐249‐3p and cel‐miR‐77‐5p in C. elegans regulate lifespan, fitness, mitochondrial morphology and membrane potential. Although lacking direct mammalian orthologs, H2O2‐induced microRNAs mmu‐miR‐181a‐5p and mmu‐miR‐378a‐3p regulate myogenesis, autophagy, mitochondrial content and respiration in murine myoblasts ...
Qin Xia +7 more
wiley +1 more source