Search Results - "Dy, Marisela E."

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective by Dy, Marisela E., MD, Waugh, Jeff L., MD, PhD, Sharma, Nutan, MD, PhD, O’Leary, Heather, Kapur, Kush, PhD, D’Gama, Alissa M., PhD, Sahin, Mustafa, MD, PhD, Urion, David K., MD, Kaufmann, Walter E., MD, PhD

“…Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. We collected…”
Get full text

TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia by Dy, Marisela E, Sims, Katherine B, Friedman, Jennifer

“…Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by lysosomal ceroid deposition. Historically, NCLs were classified by onset…”
Get full text

Voice and swallowing dysfunction in X‐linked dystonia parkinsonism by Song, Phillip C., Le, Hoai, Acuna, Patrick, De Guzman, Jan Kristopher Palentinos, Sharma, Nutan, Francouer, Taylor N., Dy, Marisela E., Go, Criscely L.

“…Objectives To systematically characterize and describe voice and swallowing manifestations in patients with X‐linked dystonia parkinsonism (XDP) and correlate…”
Get full text

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study by Stallworth, Jennifer L, Dy, Marisela E, Buchanan, Caroline B, Chen, Chin-Fu, Scott, Alexandra E, Glaze, Daniel G, Lane, Jane B, Lieberman, David N, Oberman, Lindsay M, Skinner, Steven A, Tierney, Aubin E, Cutter, Gary R, Percy, Alan K, Neul, Jeffrey L, Kaufmann, Walter E

“…OBJECTIVETo characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT). METHODSData from 1,123 girls and women enrolled in…”
Get full text

Child Neurology: Diagnosis and treatment of Tourette syndrome by Hirschtritt, Matthew E, Dy, Marisela E, Yang, Kelly G, Scharf, Jeremiah M

“…A 16-year-old left-handed boy with Tourette syndrome (TS) presented to the outpatient neurology clinic complaining of difficulty focusing and completing tasks…”
Get full text

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series by Dy, Marisela E., Chang, Florence C. F., Jesus, Sol De, Anselm, Irina, Mahant, Neil, Zeilman, Pamela, Rodan, Lance H., Foote, Kelly D., Tan, Wen-Hann, Eskandar, Emad, Sharma, Nutan, Okun, Michael S., Fung, Victor S. C., Waugh, Jeff L.

“…ADCY5 mutations have been reported as a cause of early onset hyperkinetic movements associated with delayed motor milestones, hypotonia, and exacerbation…”
Get full text

Low CSF 5‐HIAA in Myoclonus Dystonia by Peall, Kathryn J., Ng, Joanne, Dy, Marisela E., Sharma, Nutan, Pope, Simon, Heales, Simon, Friedman, Jennifer R., Kurian, Manju A.

Get full text

Increase in Functional Tic Presentations in Sexual Orientation and Gender Identity Minority Youth During Coronavirus Disease 2019 by Armstrong-Javors, Amy, Realbuto, Evan, Dy-Hollins, Marisela E., Scharf, Jeremiah M.

“…Functional tic disorders are among the least common functional movement disorders, but their prevalence rose during the coronavirus disease 2019 (COVID-19)…”
Get full text

Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism by Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas

“…Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition…”
Get full text

A Qualitative Study of Facilitators, Barriers, and Gender Disparities in Academic Neurology by Dy-Hollins, Marisela E, Hall, Deborah A, Cahill, Carolyn M, Meyer, Ana-Claire L, Peltier, Amanda C, Ostendorf, Tasha, Rheaume, Carol E, Keran, Christopher M, Goldman, Myla D

“…To understand the challenges and facilitators of a successful academic neurology research career broadly and to identify gender-based disparities specifically…”
Get full text

Holoprosencephaly‐Associated Hyperkinesia by Dy, Marisela E., Chuang, Nathaniel A., Friedman, Jennifer

Get full text

The Association Between Child Food Allergy and Family Food Insecurity in a Nationally Representative US Sample by Treffeisen, Elsa R., Cromer, Sara J., Dy-Hollins, Marisela E., Lin, Sheng Y., Naik, Hiten, Graham, Dionne A., Fiechtner, Lauren, Kuhlthau, Karen A., Schneider, Lynda C., Walsh, Kathleen E.

“…To assess whether child food allergy is associated with family food insecurity, overall, and across different income levels. We used the 2011–2018 National…”
Get full text

The Challenge of Examining Social Determinants of Health in People Living With Tourette Syndrome by Dy-Hollins, Marisela E., Carr, Samuel J., Essa, Angela, Osiecki, Lisa, Lackland, Daniel T., Voeks, Jenifer H., Mejia, Nicte I., Sharma, Nutan, Budman, Cathy L., Cath, Danielle C., Grados, Marco A., King, Robert A., Lyon, Gholson J., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Chibnik, Lori B., Mathews, Carol A., Scharf, Jeremiah M.

“…To examine the association between race, ethnicity, and parental educational attainment on tic-related outcomes among Tourette Syndrome (TS) participants in…”
Get full text

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation by Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer

“…Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease…”
Get full text

Holoprosencephaly-Associated Hyperkinesia by Dy, Marisela E, Chuang, Nathaniel A, Friedman, Jennifer

Get full text