Benjamin N. Vogel
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View article: Heterozygous Pathogenic Variants in <i>SERPINB7</i> Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma
Heterozygous Pathogenic Variants in <i>SERPINB7</i> Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima‐Type Palmoplantar Keratoderma Open
The authors present the first documented case of concomitant Nagashima‐type palmoplantar keratoderma and moyamoya angiopathy, identifying a novel gene as a potential link between rare dermatologic and cerebrovascular diseases. The subject …
View article: Caregiver burden and familial impact in Down Syndrome Regression Disorder
Caregiver burden and familial impact in Down Syndrome Regression Disorder Open
Background Down Syndrome Regression Disorder (DSRD) is an acute or subacute neurocognitive regression in individuals with Down syndrome (DS), characterized by a loss of previously acquired cognitive, adaptive, and social skills. DSRD profo…
View article: Evidence of blood–brain barrier dysfunction and <scp>CSF</scp> immunoglobulin synthesis in Down Syndrome Regression Disorder
Evidence of blood–brain barrier dysfunction and <span>CSF</span> immunoglobulin synthesis in Down Syndrome Regression Disorder Open
Objectives This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods A prospective case–control study comparing proteomic, m…
View article: Down Syndrome and Autoimmune Disease
Down Syndrome and Autoimmune Disease Open
Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction…
View article: De novo variants in immune regulatory genes in Down syndrome regression disorder
De novo variants in immune regulatory genes in Down syndrome regression disorder Open
View article: Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder Open
Objective To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. Methods A multicenter, re…
View article: Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis
Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis Open
Background Pediatric onset multiple sclerosis (POMS) commonly occurs at the time of various endocrine changes. Evaluation of the impact of endocrine status on disease severity in POMS has not been previously explored. Objective This study …
View article: Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases Open