Now showing items 1-8 of 8

    • Alzheimer's Disease Amyloid-\(\beta\) Links Lens and Brain Pathology in Down Syndrome 

      Moncaster, Juliet A.; Lu, Suqian; Burton, Mark A.; Ghosh, Joy G.; Soscia, Stephanie J.; Mocofanescu, Anca; Kuszak, Jer R.; Pineda, Roberto; Moir, Robert D.; Ericsson, Maria; Folkerth, Rebecca Dunn; Robb, Richard Moore; Clark, John I.; Tanzi, Rudolph Emile; Hunter, David; Goldstein, Lee David (Public Library of Science, 2010)
      Down syndrome (DS, trisomy 21) is the most common chromosomal disorder and the leading genetic cause of intellectual disability in humans. In DS, triplication of chromosome 21 invariably includes the APP gene (21q21) ...
    • Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5 

      Abedalthagafi, Malak S.; Merrill, Parker H.; Bi, Wenya Linda; Jones, Robert T.; Listewnik, Marc L.; Ramkissoon, Shakti H.; Thorner, Aaron R.; Dunn, Ian F.; Beroukhim, Rameen; Alexander, Brian M.; Brastianos, Priscilla K.; Francis, Joshua M.; Folkerth, Rebecca D.; Ligon, Keith L.; Hummelen, Paul Van; Ligon, Azra H.; Santagata, Sandro (Impact Journals LLC, 2014)
      Meningiomas are a diverse group of tumors with a broad spectrum of histologic features. There are over 12 variants of meningioma, whose genetic features are just beginning to be described. Angiomatous meningioma is a World ...
    • The first NINDS/NIBIB consensus meeting to define neuropathological criteria for the diagnosis of chronic traumatic encephalopathy 

      McKee, Ann C.; Cairns, Nigel J.; Dickson, Dennis W.; Folkerth, Rebecca D.; Dirk Keene, C.; Litvan, Irene; Perl, Daniel P.; Stein, Thor D.; Vonsattel, Jean-Paul; Stewart, William; Tripodis, Yorghos; Crary, John F.; Bieniek, Kevin F.; Dams-O’Connor, Kristen; Alvarez, Victor E.; Gordon, Wayne A. (Springer Berlin Heidelberg, 2015)
      Chronic traumatic encephalopathy (CTE) is a neurodegeneration characterized by the abnormal accumulation of hyperphosphorylated tau protein within the brain. Like many other neurodegenerative conditions, at present, CTE ...
    • Gray Matter Injury Associated with Periventricular Leukomalacia in the Premature Infant 

      Pierson, Christopher R.; Folkerth, Rebecca Dunn; Billiards, Saraid S.; Trachtenberg, Felicia L.; Drinkwater, Mark E.; Volpe, Joseph John; Kinney, Hannah Chase (Springer-Verlag, 2007)
      Neuroimaging studies indicate reduced volumes of certain gray matter regions in survivors of prematurity with periventricular leukomalacia (PVL). We hypothesized that subacute and/or chronic gray matter lesions are increased ...
    • HIV-2 Encephalitis: Case Report and Literature Review 

      Wood, Brian R.; Klein, Joshua Peter; Lyons, Jennifer L; Milner, Danny Arnold; Phillips, Richard; Schutten, Martin; Folkerth, Rebecca Dunn; Ciarlini, Pedro; Henrich, Timothy Jensen; Johnson, Jennifer Ann (Mary Ann Liebert, 2012)
      We report the case of a 59-year-old man who moved from Cape Verde to Massachusetts at the age of 29. He had multiple sexual contacts with female partners in Cape Verde and with West African women in Massachusetts, as well ...
    • Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease 

      Joshi, Mugdha; Anselm, Irina; Shi, Jiahai; Bale, Tejus A.; Towne, Meghan; Schmitz-Abe, Klaus; Crowley, Laura; Giani, Felix C.; Kazerounian, Shideh; Markianos, Kyriacos; Lidov, Hart G.; Folkerth, Rebecca; Sankaran, Vijay G.; Agrawal, Pankaj B. (Cold Spring Harbor Laboratory Press, 2016)
      We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem involvement including profound global developmental delay, severe hypotonia and weakness, ...
    • Serotonin Receptors in the Medulla Oblongata of the Human Fetus and Infant: The Analytic Approach of the International Safe Passage Study 

      Haynes, Robin L.; Folkerth, Rebecca D.; Paterson, David S.; Broadbelt, Kevin G.; Dan Zaharie, S.; Hewlett, Richard H.; Dempers, Johan J.; Burger, Elsie; Wadee, Shabbir; Schubert, Pawel; Wright, Colleen; Sens, Mary Ann; Nelsen, Laura; Randall, Bradley B.; Tran, Hoa; Geldenhuys, Elaine; Elliott, Amy J.; Odendaal, Hein J.; Kinney, Hannah C. (Oxford University Press, 2016)
      The Safe Passage Study is an international, prospective study of approximately 12 000 pregnancies to determine the effects of prenatal alcohol exposure (PAE) upon stillbirth and the sudden infant death syndrome (SIDS). A ...
    • A TSC signaling node at the peroxisome regulates mTORC1 and autophagy in response to ROS 

      Zhang, Jiangwei; Kim, Jinhee; Alexander, Angela; Cai, Shengli; Tripathi, Durga Nand; Dere, Ruhee; Tee, Andrew R.; Tait-Mulder, Jacqueline; Di Nardo, Alessia; Han, Juliette M.; Kwiatkowski, Erica; Dunlop, Elaine A.; Dodd, Kayleigh M.; Folkerth, Rebecca D.; Faust, Phyllis L.; Kastan, Michael B.; Sahin, Mustafa; Walker, Cheryl Lyn (2013)
      Subcellular localization is emerging as an important mechanism for mTORC1 regulation. We report that the tuberous sclerosis complex (TSC) signaling node, TSC1, TSC2 and Rheb, localizes to peroxisomes, where it regulates ...