A5031663349- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- ATP Synthase and ATPases Research
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Hemophilia Treatment and Research
- Diet and metabolism studies
- RNA regulation and disease
- RNA modifications and cancer
- Neurological diseases and metabolism
- Adipose Tissue and Metabolism
- Neurogenetic and Muscular Disorders Research
- Coenzyme Q10 studies and effects
- Epilepsy research and treatment
- Migraine and Headache Studies
- Chronic Disease Management Strategies
- Blood Coagulation and Thrombosis Mechanisms
- Amyotrophic Lateral Sclerosis Research
- Pancreatic and Hepatic Oncology Research
- Autism Spectrum Disorder Research
- Biochemical Acid Research Studies
- Neurological and metabolic disorders
- RNA Research and Splicing
Cleveland Clinic
2016-2025
Cancer Council Victoria
2023-2024
Haemophilia Foundation Australia
2023-2024
Neurosciences Institute
2013-2023
University Hospital Frankfurt
2023
Goethe University Frankfurt
2023
Istituto delle Scienze Neurologiche di Bologna
2023
University of Bologna
2023
Massachusetts General Hospital
2023
Columbia University Irving Medical Center
2020
Some copy-number variants are associated with genomic disorders extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management.We analyzed the genomes 2312 children known to carry a variant intellectual disability congenital abnormalities, using array comparative hybridization.Among affected children, 10.1% carried second large addition primary lesion. We identified seven disorders, each defined by specific...
Abstract Objective The cyclin‐dependent kinase like 5 ( CDKL5 ) gene is a known cause of early onset developmental and epileptic encephalopathy, also as deficiency disorder (CDD). We sought to (1) provide description seizure types in patients with CDD, (2) an assessment the frequency seizure‐free periods cortical visual impairment (CVI), (3) correlate these features genotype gender, (4) milestones. Methods This cohort study CDD. Phenotypic were explored correlated variant grouping gender. A...
The number of clinically relevant gene-based guidelines and recommendations pertaining to drug prescribing continues grow. Incorporating gene-drug interaction information into the drug-prescribing process can help optimize pharmacotherapy outcomes improve patient safety. However, pharmacogenomic implementation barriers exist such as integration results electronic health records (EHRs), development deployment decision support tools EHRs, feasible models for establishing ambulatory clinics. We...
The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% patients have recurrent in residues Arg1617 or Arg1872. Our goal was to determine functional effects these on properties.Clinical exome sequencing carried out with early-onset seizures, developmental delay, and cognitive impairment. Two identified here, p.Arg1872Leu p.Arg1872Gln, two previously mutations,...
ObjectivesTo determine safety and efficacy of the 5HT1A serotonin partial agonist buspirone on core autism associated features in children with spectrum disorder (ASD).Study designChildren 2-6 years age ASD (N = 166) were randomized to receive placebo or 2.5 5.0 mg twice daily. The primary objective was evaluate effects 24 weeks Autism Diagnostic Observation Schedule (ADOS) Composite Total Score. Secondary objectives included evaluating social competence, repetitive behaviors, language,...
Primary mitochondrial myopathies (PMMs) encompass a group of genetic disorders that impair oxidative phosphorylation, adversely affecting physical function, exercise capacity, and quality life (QoL). Current PMM standards care address symptoms, with limited clinical impact, constituting significant therapeutic unmet need. We present data from MMPOWER-3, pivotal, phase-3, randomized, double-blind, placebo-controlled trial evaluated the efficacy safety elamipretide in participants genetically...
The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity lead neuropsychiatric disease. Despite importance levels function, little known about its regulation. In this study, we report eleven individuals with disease and copy-number variations spanning NUDT21, which encodes a subunit pre-mRNA cleavage factor Im. Investigations MECP2 mRNA abundance patient-derived lymphoblastoid cells from one NUDT21 deletion three duplication cases show regulates quantity....
To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease Consortium (NAMDC) Registry.This cross-sectional, multicenter, retrospective database analysis evaluates phenotypic molecular characteristics NAMDC Registry from September 2011 to December 2018. The is a network 17 centers expertise MtDs includes both adult pediatric specialists.One thousand four hundred ten 1,553 had sufficient...
There is increased interest in developing multidisciplinary ambulatory care models of service delivery to manage patients with complex chronic diseases. These programs are expensive and given limited resources it important that targeted effectively. One potential screening strategy identify individuals who report the greatest decrement health related quality life (HRQoL) thus greater need. The aim this study was explore relationship between HRQoL, comorbid conditions acute utilisation. A...