Glutamatergic Medications for Obsessive-Compulsive and Related Disorders
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.52963
Abstract: Key Points Question Are glutamatergic medications associated with improvement in symptoms of obsessive-compulsive and related disorders (OCRDs)? Findings In this systematic review and meta-analysis of 27 randomized clinical trials involving 1369 individuals, glutamatergic medications were… read more here.
Keywords: compulsive related; glutamatergic medications; medications obsessive; related disorders ... See more keywords
Genetic Variants Associated With Anxiety and Stress-Related Disorders: A Genome-Wide Association Study and Mouse-Model Study.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA psychiatry"
DOI: 10.1001/jamapsychiatry.2019.1119
Abstract: Importance Anxiety and stress-related disorders are among the most common mental disorders. Although family and twin studies indicate that both genetic and environmental factors play an important role underlying their etiology, the genetic underpinnings of… read more here.
Keywords: anxiety; stress related; study; anxiety stress ... See more keywords
Expansion of the genetic landscape of ERLIN2‐related disorders
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51007
Abstract: ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where… read more here.
Keywords: landscape erlin2; expansion genetic; erlin2 related; genetic landscape ... See more keywords
Association between amphetamine‐related disorders and dementia‐a nationwide cohort study in Taiwan
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51113
Abstract: We have conducted a study to clarify the association between amphetamine‐related disorders (ARD) and the risk of developing dementia. read more here.
Keywords: related disorders; association amphetamine; amphetamine related; study ... See more keywords
Serious safety events in rituximab‐treated multiple sclerosis and related disorders
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51136
Abstract: Studies investigating rates and risk factors for serious safety events (SSEs) during rituximab treatment of multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and related disorders are limited. read more here.
Keywords: safety events; multiple sclerosis; related disorders; serious safety ... See more keywords
KCNT2-related disorders: phenotypes, functional and pharmacological properties.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of neurology"
DOI: 10.1002/ana.26662
Abstract: OBJECTIVE Pathogenic variants in KCNT2 are rare causes of developmental epileptic encephalopathy (DEE). We herein describe the phenotypic and genetic features of patients with KCNT2-related DEE, and the in vitro functional and pharmacological properties of… read more here.
Keywords: properties kcnt2; pharmacological properties; kcnt2 related; functional pharmacological ... See more keywords
A disease concept model for STXBP1‐related disorders
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12688
Abstract: STXBP1‐related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their… read more here.
Keywords: disease concept; concept model; stxbp1 related; related disorders ... See more keywords
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4799
Abstract: Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up… read more here.
Keywords: skeletal dysplasia; dysplasia; related disorders; gazali skeletal ... See more keywords
Clinical progress note: Management of somatic symptom and related disorders in pediatric inpatients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Hospital Medicine"
DOI: 10.1002/jhm.12947
Abstract: Somatic symptoms affect nearly 1 in 10 children each day and account for a rising number of pediatric hospitalizations. In fact, the severity of these somatic symptoms is often greater in hospitalized settings, where nearly… read more here.
Keywords: symptom; management; related disorders; somatic symptom ... See more keywords
Gene therapy for neurotransmitter‐related disorders
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12697
Abstract: Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous diseases with predominant neurological features, such as movement disorders, autonomic dysfunction, and developmental delay. Clinical overlap with other disorders has led to delayed… read more here.
Keywords: therapy neurotransmitter; gene therapy; related disorders; neurotransmitter related ... See more keywords
Clinical findings from the landmark MEF2C ‐related disorders natural history study
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1919
Abstract: MEF2C‐related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C‐related disorders across 43 studies. Despite these reports, the disorder is… read more here.
Keywords: clinical findings; related disorders; landmark mef2c; findings landmark ... See more keywords