CarolynElizabethPizoliMD

PubMed

• The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
  Samuel W Liu, Ludmila Francescatto, Alexander Behura, Kristen L Deak, Chi D Hornik, Khoon Ghee Queenie Tan, Marie T McDonald, Benjamin T Cocanougher, Mariele Anneling,...> ;HGG Advances. 2024 Apr 1
• Disease Course and Response to Immunotherapy in Children With Childhood Disintegrative Disorder: A Retrospective Case Series.
  Sullivan, M., Taylor, K., Van Mater, H., Gupta, M., Pizoli, C.> ;Journal of Child Neurology. 2023 Dec 19
• Aphasia Associated With Acute on Chronic Kidney Failure in an Adolescent.
  Jones, J., Chambers, E., Cason, R., Pizoli, C., Kumar, K.> ;Cureus. 2023 Nov 1
• Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
  Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, , Carolyn E Pizoli, Edward C Smith, Queenie K-G Tan, Vandana Shashi> ;Orphanet Journal of Rare Diseases. 2023 Sep 4
• 16 citations
  Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
  Sima Khazaei, Carol C L Chen, Augusto Faria Andrade, Nisha Kabir, Pariya Azarafshar, Shahir M Morcos, Josiane Alves França, Mariana Lopes, Peder J Lund, Geoffroy Danie...> ;Cell. 2023 Mar 16
• 3 citations
  Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.
  Kayli Maney, Carolyn Pizoli, Jeffrey B Russ> ;Neurology. 2023 Apr 25
• 3 citations
  Pediatric GAD-65 Autoimmune Encephalitis: Assessing Clinical Characteristics and Response to Therapy With a Novel Assessment Scale.
  Alexis Harmon, Cory Stingl, Aruna Rikhi, Linh Tran, Carolyn Pizoli, Michael Malinzak, Heather Van Mater> ;Pediatric Neurology. 2022 Mar 1
• Hypersomnolence in a 17-year-old Boy.
  Laura Cannon, Heather Van Mater, Carolyn Pizoli> ;Pediatrics in Review. 2021 Jan 1
• 7 citations
  Subclinical Retinal versus Brain Findings in Infants with Hypoxic Ischemic Encephalopathy.
  Shwetha Mangalesh, Du Tran-Viet, Carolyn Pizoli, Vincent Tai, Mays A. El-Dairi, Xi Chen, Christian Viehland, Laura F. Edwards, Joanne Finkle, Sharon F. Freedman, Cynth...> ;Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie. 2020 May 29
• 12 citations
  PURA Syndrome and Myotonia.
  Steven P. Trau, Carolyn Pizoli> ;Pediatric Neurology. 2020 Mar 1
• 15 citations
  Opioid and benzodiazepine use during therapeutic hypothermia in encephalopathic neonates.
  Megan W Berube, Monica E. Lemmon, Carolyn Pizoli, Margarita Bidegain, Veeral N. Tolia, C. Michael Cotten, Rachel G. Greenberg> ;Journal of Perinatology. 2020 Jan 1
• 25 citations
  A Genocentric Approach to Discovery of Mendelian Disorders
  Adam W. Hansen, Mullai Murugan, He Li, Michael M. Khayat, Liwen Wang, Jill A. Rosenfeld, B. Kim Andrews, Shalini N. Jhangiani, Zeynep Coban Akdemir, Fritz J. Sedlazeck...> ;American Journal of Human Genetics. 2019 Nov 7
• 20 citations
  Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
  Tahir N. Khan, Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, Shahid Mahmood Baig, Alexander C. Allori, Misha...> ;American Journal of Human Genetics. 2019 Jan 3
• 44 citations
  Outcomes of preterm infants treated with hypothermia for hypoxic-ischemic encephalopathy.
  Tamara I. Herrera, Laura F. Edwards, William F. Malcolm, P. Brian Smith, Kimberley A. Fisher, Carolyn Pizoli, Kathryn E. Gustafson, Ricki F. Goldstein, C. Michael Cott...> ;Early Human Development. 2018 Aug 23
• 3 citations
  The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
  Queenie K.-G. Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E. Gustafson, Carolyn Pizoli, Anne F. Buckley, Yong-hui Jiang> ;Cold Spring Harbor Molecular Case Studies. 2017 Nov 1
• 24 citations
  Epilepsy in neurofibromatosis type 1.
  Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney A. Radtke, Edward C. Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger E. McLendon, Mohamad A. Mi...> ;Epilepsy & Behavior. 2017 Aug 1
• 35 citations
  Gabapentin Use in the Neonatal Intensive Care Unit.
  Laura F. Edwards, Stephen DeMeo, Chi D. Hornik, C. Michael Cotten, P. Brian Smith, Carolyn Pizoli, Julie Hauer, Margarita Bidegain> ;The Journal of Pediatrics. 2016 Feb 1
• 44 citations
  Thinner Retinal Nerve Fiber Layer in Very Preterm Versus Term Infants and Relationship to Brain Anatomy and Neurodevelopment
  Adam L. Rothman, Monica B. Sevilla, Shwetha Mangalesh, Kathryn E. Gustafson, Laura F. Edwards, C. Michael Cotten, Joshua S. Shimony, Carolyn Pizoli, Mays A. El-Dairi, ...> ;American Journal of Ophthalmology. 2015 Dec 1
• 34 citations
  Diffuse reduction of white matter connectivity in cerebral palsy with specific vulnerability of long range fiber tracts
  Zoë A. Englander, Carolyn Pizoli, Anastasiya Batrachenko, Jessica Sun, Gordon Worley, Mohamad A. Mikati, Joanne Kurtzberg, Allen W. Song> ;Neuroimage. Clinical. 2013 Jan 1
• 48 citations
  Limited regional cerebellar dysfunction induces focal dystonia in mice.
  Robert S. Raike, Carolyn Pizoli, Catherine J.C. Weisz, Arn M. J. M. van den Maagdenberg, Hyder A. Jinnah, Ellen J. Hess> ;Neurobiology of Disease. 2013 Jan 1
• 116 citations
  Resting-state activity in development and maintenance of normal brain function
  Carolyn Pizoli, Manish N. Shah, Abraham Z. Snyder, Joshua S. Shimony, David D. Limbrick, Marcus E. Raichle, Bradley L. Schlaggar, Matthew D. Smyth> ;Proceedings of the National Academy of Sciences of the United States of America. 2011 Jul 12
• 142 citations
  Abnormal cerebellar signaling induces dystonia in mice
  Carolyn Pizoli, Hyder A. Jinnah, Melvin L. Billingsley, Ellen J. Hess> ;The Journal of Neuroscience. 2002 Sep 1
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