Pfizer COVID-19 vaccine appointments are available to our patients. Sign up for Connect today to schedule your vaccination. Continue your routine care with us by scheduling an in-person appointment or Video Visit.

Publications

Found 8 results
Author Title [ Type(Desc)] Year
Filters: Keyword is Mutation  [Clear All Filters]
Journal Article
Maduro V, Pusey BN, Cherukuri PF, Atkins P, Souich Cdu, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P et al..  2016.  Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.. Orphanet J Rare Dis. 11(1):62.
Lee AS, De Jesús-Cortés H, Kabir ZD, Knobbe W, Orr M, Burgdorf C, Huntington P, McDaniel L, Britt JK, Hoffmann F et al..  2016.  The Neuropsychiatric Disease-Associated Gene cacna1c Mediates Survival of Young Hippocampal Neurons.. eNeuro. 3(2)
Chung SYoung, Kishinevsky S, Mazzulli JR, Graziotto J, Mrejeru A, Mosharov EV, Puspita L, Valiulahi P, Sulzer D, Milner TA et al..  2016.  Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation.. Stem Cell Reports. 7(4):664-677.
Jain D, Meydan C, Lange J, Bouuaert CClaeys, Lailler N, Mason CE, Anderson KV, Keeney S.  2017.  rahu is a mutant allele of Dnmt3c, encoding a DNA methyltransferase homolog required for meiosis and transposon repression in the mouse male germline.. PLoS Genet. 13(8):e1006964.
Ishii M, Wang G, Racchumi G, Dyke JP, Iadecola C.  2014.  Transgenic mice overexpressing amyloid precursor protein exhibit early metabolic deficits and a pathologically low leptin state associated with hypothalamic dysfunction in arcuate neuropeptide Y neurons.. J Neurosci. 34(27):9096-106.
Choi MSik, Nakamura T, Cho S-J, Han X, Holland EA, Qu J, Petsko GA, Yates JR, Liddington RC, Lipton SA.  2014.  Transnitrosylation from DJ-1 to PTEN attenuates neuronal cell death in parkinson's disease models.. J Neurosci. 34(45):15123-31.
Yuan P, Condello C, C Keene D, Wang Y, Bird TD, Paul SM, Luo W, Colonna M, Baddeley D, Grutzendler J.  2016.  TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy.. Neuron. 90(4):724-39.
Liu W, Zhao L, Blackman B, Parmar M, Wong MYing, Woo T, Yu F, Chiuchiolo MJ, Sondhi D, Kaminsky SM et al..  2016.  Vectored Intracerebral Immunization with the Anti-Tau Monoclonal Antibody PHF1 Markedly Reduces Tau Pathology in Mutant Tau Transgenic Mice.. J Neurosci. 36(49):12425-12435.