Results 121 to 130 of about 10,185,945 (317)
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Children’s and household tales: from oral tradition to children’s literature [PDF]
Os irmãos Grimm (Alemanha- séc.XIX) foram dos mais prolíferos escritores de his - tórias de potencial receção Infanto-juvenil, tornando imortais contos como: “Capuchinho Ver - melho”, “A cabra e os sete cabritinhos”, “A bela Adormecida” ou “Gata ...
Guerreiro, Carla Alexandra do Espírito Santo
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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Nordisk samarbejde omkring børnelitteratur - institutioneile rammer og konkrete tiltag [PDF]
The author presents main institutions and ideas concerning the Nordic cooperation within children’s literature. The Nordic culture-model is analyzed with focus on children’s fiction. The paper includes some reflections about the Danish way of circulation
Haber-Biały, Justyna
core +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
Theme: Children's Literature Reviews - How, Where and Who? Ill. Jenny Nyström from Barnkammarens bok, 1882. This article addresses the changing landscape of book reviewing within the field of young adult (YA) literature, particularly in the context ...
Emelie Owens, Sonali Kulkarni
doaj +1 more source
Parents' and Children's Gender: the effect of parental expectations in children's performance [PDF]
Parental expectations have been found in the literature to explain their children’s academic achievement. Nevertheless, most of the evidence on this issue is the result of the endogeneity of parental expectations when explaining students’ performance. In
López Agudo, Luis Alejandro +2 more
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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

