DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
core +2 more sources
Clinical Genetics, Volume 109, Issue 4, Page 679-696, April 2026.Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart +17 more
wiley +1 more source
A Study of the Wellbeing of Siblings of Children with Autism Spectrum Disorders: Sibling Efficacy, Positive and Negative Affect, and Coping Strategies [PDF]
, 2018 Autism spectrum disorders (ASD) include pervasive developmental disorders characterised by communication deficits, difficulty with social understanding, and repetitive behaviors.
Habelrih, Emily Anne +2 more
core +1 more source
Reduced face identity aftereffects in relatives of children with autism. [PDF]
, 2012 Autism is a pervasive developmental condition with complex aetiology. To aid the discovery of genetic mechanisms, researchers have turned towards identifying potential endophenotypes - subtle neurobiological or neurocognitive traits present in ...
Fiorentini, Chiara +4 more
core +2 more sources
Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)
ChemMedChem, Volume 21, Issue 5, 13 March 2026.DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley +1 more source
INFAD, 2017 The siblings of children diagnosed with the autistic spectrum disorder (ASD) have higher risk than the average infantile population of later developing the disorder, between 5 and 10 %.
Maite Montagut Asunción +2 more
doaj +1 more source
Neuropathology of infantile autism [PDF]
Molecular Psychiatry, 1998 T L, Kemper, M L, Bauman
openaire +4 more sources
Assessment of Metabolic Parameters For Autism Spectrum Disorders [PDF]
, 2009 Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain.
Ghosh, S +4 more
core
Working together? Parent and local authority views on the process of obtaining appropriate educational provision for children with autism spectrum disorders [PDF]
, 2011 Background: There is general agreement across all interested parties that a process of working together is the best way to determine which school or educational setting is right for an individual child with autism spectrum disorder.
Tissot, Catherine
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АУТИЗМ, ЕГО КОРНИ И КОРРЕКЦИОННЫЕ МЕТОДЫ НА ОСНОВЕ СИСТЕМНО-ВЕКТОРНОЙ МЕТОДИКИ ЮРИЯ БУРЛАНА
Sovremennye Issledovaniâ Socialʹnyh Problem, 2015 Данная статья посвящена исследованию аутизма и изучению его с помощью системно-векторной методологии Юрия Бурлана. Системно-векторная психология возникла на основе классического психоанализа и теории системного мышления и оформилась в 21-м веке в систему
Anna Vyacheslavovna Vinevskaya +1 more
doaj +1 more source