Dilbar Mammadova
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View article: Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol Open
View article: Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A Open
Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phen…
View article: A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex
A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex Open
Background Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present…
View article: Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i> Open
We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and ne…
View article: Pulmonary Dysfunction after Pediatric COVID-19
Pulmonary Dysfunction after Pediatric COVID-19 Open
Background Long COVID occurs at a lower frequency in children and adolescents than in adults. Morphologic and free-breathing phase-resolved functional low-field-strength MRI may help identify persistent pulmonary manifestations after SARS-…
View article: Persisting pulmonary dysfunction in pediatric post-acute Covid-19
Persisting pulmonary dysfunction in pediatric post-acute Covid-19 Open
The frequency and extent of persistent sequelae in children and adolescents after infection with SARS-CoV-2 still needs to be comprehensively determined. In this cross-sectional clinical trial, we used non-invasive, label-free morphologic …
View article: Persisting Pulmonary Dysfunction in Pediatric Post-Acute COVID-19
Persisting Pulmonary Dysfunction in Pediatric Post-Acute COVID-19 Open