Brianna Pierce

N-acetylglutamate synthetase knockout mouse – an animal model of neonatal hyperammonemia

Ljubica Caldovic, Alyssa Kowalczyk, Kennedy Blancher, Tina Li et autres

us (code pays fourni par la source)

P160: Phenotypic expansion and natural history of leukoencephalopathy with brain calcifications and cysts

Jamie Fraser, Jennifer Harmon, Brianna Pierce, Jason Schroeder et autres

Leukoencephalopathy with brain calcifications and cysts (LCC, previously Labrune Syndrome, OMIM 614561) is caused by biallelic pathogenic variants in SNORD118 which encodes the small nucleolar RNA U8 and is required for biogenesis of the 60S ribosome. LCC is characterized by progressive white …

in, us (code pays fourni par la source)

P032: Development of a novel mouse model of mitochondrial membrane protein-associated neurodegeneration

Sophie Huang, Brianna Pierce, Natalie Laing Smith, Nnenna Nwankwo

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultra-rare, progressive neurodegenerative disorder caused by biallelic pathogenic variants in C19orf12, causing dysfunction of the C19orf12 protein. C19orf12 localizes to the mitochondria, and endoplasmic reticulum (ER), and may be associated with mitochondria-associated membranes (MAMs). MPAN …

in, us (code pays fourni par la source)

O22: A novel clinical-translational model of leukoencephalopathy with calcifications and cysts recapitulates the human phenotype

Brianna Pierce, Jennifer Harmon, Nnenna Nwankwo, Julie Marco

Leukoencephalopathy with Calcifications and Cysts (LCC) is a progressive, ultra-rare disorder for which no disease-modifying therapy exists. LCC is classically characterized by a triad of T2-white matter hyperintensity, calcifications, and cysts on brain imaging. Individuals with LCC experience poor growth, regression of …

us (code pays fourni par la source)

Blood-brain barrier dysfunction in leukoencephalopathy, brain calcifications, and cysts

Nnenna Nwankwo, Brianna Pierce, Natalie R. Smith, Jamie L. Fraser

us (code pays fourni par la source)

P187: A clinical-translational model of leukoencephalopathy with calcifications and cysts*

Jennifer Harmon, Brianna Pierce, Jullie Rhee, Kyle W. Kroll et autres

dural veins and arteries of the circle of Willis.MRI of the chest, abdomen and pelvis revealed dilated axillary, subclavian arteries/veins, iliac veins, main pulmonary artery, and peripheral pulmonary arteries.She has been referred to a neurosurgeon and will need continued follow up with …

in, us (code pays fourni par la source)

Preventing immigration detention of children: a comparative study of laws in 150 countries

Jody S. Heymann, Amy Raub, Brianna Pierce, Michael McCormack et autres

The COVID-19 pandemic has shined a spotlight on the fundamental incompatibility of immigration detention with health. Yet immigration detention's threats to human rights did not begin with COVID-19. International treaties are clear that detaining children based on citizenship is a violation of …

us (code pays fourni par la source)

Immigration Detention in the United States: Identifying Alternatives That Comply With Human Rights and Advance Public Health

Alison Ly, Aleta Sprague, Brianna Pierce, Corina Post et autres

Under international law, the United States is obligated to uphold noncitizens' fundamental rights, including their rights to health. However, current US immigration laws-and their enforcement-not only fail to fulfill migrants' health rights but actively undermine their realization and worsen the pandemic's spread. …

us (code pays fourni par la source)

Polyaniline sol-gels and their third-order nonlinear optical effects

Benjamin R. Mattes, Edward T. Knobbe, Peter D. Fuqua, Fumito Nishida et autres

us (code pays fourni par la source)