Search Results - "Kichula, Elizabeth"

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy by Kichula, Elizabeth A., Proud, Crystal M., Farrar, Michelle A., Kwon, Jennifer M., Saito, Kayoko, Desguerre, Isabelle, McMillan, Hugh J.

“…Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disease caused by biallelic mutations in the survival motor neuron 1 (SMN1) gene…”
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Clinical Experience With Gene Therapy in Older Patients With Spinal Muscular Atrophy by Matesanz, Susan E., Battista, Vanessa, Flickinger, Jean, Jones, Jennifer N., Kichula, Elizabeth A.

“…Onasemnogene abeparvovec was recently approved for the treatment of spinal muscular atrophy (SMA) in children younger than two years; however, clinical trials…”
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Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec by Matesanz, Susan E., Curry, Candace, Gross, Brianna, Rubin, Adam I., Linn, Rebecca, Yum, Sabrina W., Kichula, Elizabeth A.

“…Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at…”
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Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study by Trucco, Federica, Ridout, Deborah, Scoto, Mariacristina, Coratti, Giorgia, Main, Marion L., Muni Lofra, Robert, Mayhew, Anna G., Montes, Jacqueline, Pane, Marika, Sansone, Valeria, Albamonte, Emilio, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Parasuraman, Deepak, Childs, Anne-Marie, Gowda, Vasantha, Willis, Tracey, Ong, Min, Marini-Bettolo, Chiara, De Vivo, Darryl C., Darras, Basil T., Day, John, Kichula, Elizabeth A., Mayer, Oscar H., Navas Nazario, Aledie A., Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco, De Sanctis, Roberto, Pirola, Alice, Longo, Antonella, Sframeli, Maria, Pedemonte, Marina, Pallant, Lindsey, Wraige, Elizabeth, Turner, Sarah, White, Kay, Glanzman, Allan M., Civitello, Matthew, Berardinelli, Angela, Baranello, Giovanni, Spinty, Stefan, Majumbdar, Anirban, Huges, Imelda, Krishnakumar, Deepa, Chow, Gabriel, Thomas, Neil, Ramdas, Sithara

“…To describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients with type 2 and nonambulant…”
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Patient headache questionnaires can improve headache diagnosis and treatment in children by Szperka, Christina L., Witzman, Stephanie, Ostapenko, Svetlana, Farrar, John T., Hsu, Jesse Yenchih, Malavolta, Carrie P., Bunney, Janille D., Bange, Erin M., Patterson Gentile, Carlyn, Velasquez, Gerardo, Marquez de Prado, Blanca, Cosico, Mahgenn, Lee, Meyeon, Pojomovsky McDonnell, Pamela, Prelack, Marisa S., Chadehumbe, Madeline A., Stephenson, Donna J., Kichula, Elizabeth A., Tomaine, Scott C., Hershey, Andrew D.

“…Objective To examine trends in diagnosis of headache and migraine in a large pediatric neurology cohort, and test whether an electronic health record…”
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Developmental and comparative aspects of posterior medial thalamocortical innervation of the barrel cortex in mice and rats by Kichula, Elizabeth A., Huntley, George W.

“…The thalamocortical projection to the rodent barrel cortex consists of inputs from the ventral posterior medial (VPM) and posterior medial (POm) nuclei that…”
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A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy by Zingariello, Carla D, Brandsema, John, Drum, Elizabeth, Henderson, Alicia A, Dubow, Scott, Glanzman, Allan M, Mayer, Oscar, Yum, Sabrina W, Kichula, Elizabeth A

“…In December 2016, nusinersen gained FDA approval as the first pharmacologic treatment for spinal muscular atrophy (SMA), a disorder of motor neurons and the…”
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Familial Dysautonomia Is Caused by Mutations of the IKAP Gene by Anderson, Sylvia L., Coli, Rocco, Daly, Ira W., Kichula, Elizabeth A., Rork, Matthew J., Volpi, Sabrina A., Ekstein, Josef, Rubin, Berish Y.

“…The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded…”
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Early Clinical Experience with Onasemnogene Abeparvovec in Spinal Muscular Atrophy (SMA) Type 2 Patients at a Single Center (4855) by Matesanz, Susan, Kichula, Elizabeth

“…Abstract only…”
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Etravirine in Friedreich's ataxia: Lessons from HIV? by Lynch, David R., Schadt, Kimberly, Kichula, Elizabeth

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Frataxin Restoration in the Nervous System: Possibilities for Gene Therapy by Lynch, David R., Kichula, Elizabeth, Lin, Hong

“…[...]this approach provides a rationale at the level of frataxin expression for one component of the selective neuronal vulnerability in FRDA. [...]this model…”
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Challenges ahead for trials in Friedreich’s ataxia by Lynch, David R, Kichula, Elizabeth

“…The disorder results from expansion of GAA repeats in the FXN gene, which leads to deficiency of frataxin, a small protein that is thought to be required for…”
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Motor Outcomes after Clinical Treatment with Nusinersen: A Single-center Experience (P1.6-053) by Kichula, Elizabeth, Devanarayan, Priya, Glanzman, Allan, Estilow, Timothy, Yum, Sabrina, Brandsema, John

“…Abstract only…”
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Structural Cardiac Malformations in Spinal Muscular Atrophy; A Case Series (1632) by Manhica, Natalie, Lim, Jaehyung, Matesanz, Susan, Butterfield, Russell, Perlman, Seth, Lotze, Timothy, Kichula, Elizabeth, Thattaliyath, Bijoy, Mathews, Katherine

“…Abstract only…”
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CSF Biomarkers of Disease Severity and Response to Nusinersen Treatment in Children with Spinal Muscular Atrophy (1971) by Fadda, Giulia, Kichula, Elizabeth, Bacchus, Micky, Brown, Robert, Zhao, Ling, Waldman, Amy, Augelli, Brian, Banwell, Brenda, Bar-Or, Amit

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Effect of Nusinsersen in an Adult SMA Cohort: CSF Biomarkers and RULM (4725) by Quinn, Colin, Fadda, Giulia, McMillan, Corey, Michon, Sara-Claude, Kichula, Elizabeth, Zhao, Ling, Banwell, Brenda, Bar-Or, Amit, Elman, Lauren

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Inherited Neuromuscular Disorders: Presentation, Diagnosis, and Advances in Treatment by Kichula, Elizabeth A.

“…Purpose of Review This article reviews presentation of inherited neuromuscular disorders, including how to differentiate them from other causes of hypotonia…”
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Friedreich Ataxia: Multidisciplinary Clinical Care by Lynch, David R, Schadt, Kim, Kichula, Elizabeth, McCormack, Shana, Lin, Kimberly Y

“…Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000-100,000 person in the United States. Traditionally viewed as a neurodegenerative…”
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Outcomes of early‐treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study by Goedeker, Natalie L., Rogers, Amanda, Fisher, Mark, Arya, Kapil, Brandsema, John F., Farah, Hiba, Farrar, Michelle A., Felker, Marcia V., Gibbons, Melissa, Hamid, Omer Abdul, Harmelink, Matthew, Herbert, Karen, Kichula, Elizabeth, King, Kiana, Lakhotia, Arpita, Lee, Bo Hoon, Kuntz, Nancy L., Parsons, Julie, Rehborg, Rebecca, Veerapaniyan, Aravindhan, Zaidman, Craig M.

“…Introduction/Aims While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This…”
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Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Feasibility for Individuals with Severe Spinal Muscular Atrophy II (S46.004) by Kichula, Elizabeth, Duong, Tina, Glanzman, Allan, Pasternak, Amy, Darras, Basil, Finkel, Richard, De Vivo, Darryl, Zolkipli-Cunningham, Zarazuela, Day, John

“…Abstract only…”
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