Search

Your search keyword '"Sevagamoorthy, Anjana"' showing total 16 results
Start Over Author "Sevagamoorthy, Anjana"
16 results on '"Sevagamoorthy, Anjana"'

1. Systemic complications of Aicardi Goutières syndrome using real-world data

Author

Peixoto de Barcelos, Isabella, Jan, Amanda K., Modesti, Nicholson, Woidill, Sarah, Gavazzi, Francesco, Isaacs, David, D'Aiello, Russell, Sevagamoorthy, Anjana, Charlton, Lauren, Pizzino, Amy, Schmidt, Johanna, van Haren, Keith, Keller, Stephanie, Eichler, Florian, Emrick, Lisa T., Fraser, Jamie L., Shults, Justine, Vanderver, Adeline, and Adang, Laura A.

Published
2024
Full Text
View/download PDF

2. Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Author

Adang, Laura Ann, Groeschel, Samuel, Grzyb, Chloe, D'Aiello, Russell, Gavazzi, Francesco, Sherbini, Omar, Bronner, Nowa, Patel, Akshilkumar, Vincent, Ariel, Sevagamoorthy, Anjana, Mutua, Sylvia, Muirhead, Kayla, Schmidt, Johanna, Pizzino, Amy, Yu, Emily, Jin, Danielle, Eichler, Florian, Fraser, Jamie L., Emrick, Lisa, Van Haren, Keith, Boulanger, Jean-Martin, Ruzhnikov, Maura, Sylvain, Michel, Nguyen, Cam-Tu Émilie, Potic, Ana, Keller, Stephanie, Fatemi, Ali, Uebergang, Eloise, Poe, Michele, Yazdani, Pouneh Amir, Bernat, John, Lindstrom, Kristen, Bonkowsky, Joshua L., Bernard, Genevieve, Stutterd, Chloe A., Orchard, Paul, Gupta, Ashish O., Ljungberg, Merete, Groenborg, Sabine, Zambon, Alberto, Locatelli, Sara, Fumagalli, Francesca, Elguen, Saskia, Kehrer, Christiane, Krägeloh-Mann, Ingeborg, Shults, Justine, Vanderver, Adeline, and Escolar, Maria L.

Published
2024
Full Text
View/download PDF

3. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Author

Adang, Laura Ann, Sevagamoorthy, Anjana, Sherbini, Omar, Fraser, Jamie L., Bonkowsky, Joshua L., Gavazzi, Francesco, D'Aiello, Russel, Modesti, Nicholson B., Yu, Emily, Mutua, Sylvia, Kotes, Emma, Shults, Justine, Vincent, Ariel, Emrick, Lisa T., Keller, Stephanie, Van Haren, Keith P., Woidill, Sarah, Barcelos, Isabella, Pizzino, Amy, Schmidt, Johanna L., Eichler, Florian, Fatemi, Ali, and Vanderver, Adeline

Published
2024
Full Text
View/download PDF

5. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome

Author

Gavazzi, Francesco, primary, Vaia, Ylenia, additional, Woidill, Sarah, additional, Formanowski, Brielle, additional, Peixoto de Barcelos, Isabella, additional, Sevagamoorthy, Anjana, additional, Modesti, Nicholson B., additional, Charlton, Lauren, additional, Cusack, Stacy V., additional, Vincent, Ariel, additional, D'Aiello, Russell, additional, Jawad, Abbas, additional, Galli, Jessica, additional, Varesio, Costanza, additional, Fazzi, Elisa, additional, Orcesi, Simona, additional, Glanzman, Allan M., additional, Lorch, Scott, additional, DeMauro, Sara B., additional, Guez-Barber, Danielle, additional, Waldman, Amy T., additional, Vanderver, Adeline, additional, and Adang, Laura A., additional

Published
2024
Full Text
View/download PDF

6. Systemic Complications and Natural History of Aicardi Goutières Syndrome (P6-8.001)

Author

Jan, Amanda, primary, de Barcelos, Isabella Peixoto, additional, Modesti, Nicholson, additional, Woidill, Sarah, additional, Gavazzi, Francesco, additional, Isaacs, David, additional, D’Aiello, Russell, additional, Sevagamoorthy, Anjana, additional, Pizzino, Amy, additional, Schmidt, Johanna, additional, Van Haren, Keith, additional, Keller, Stephanie, additional, Eichler, Florian, additional, Emrick, Lisa, additional, Fraser, Jamie, additional, Shults, Justine, additional, Vanderver, Adeline, additional, and Adang, Laura, additional

Published
2024
Full Text
View/download PDF

7. Development of a rigorous approach for retrospective natural history studies in leukodystrophies

Author

Sevagamoorthy, Anjana, primary, Gavazzi, Francesco, additional, Sherbini, Omar, additional, Vincent, Ariel, additional, D'Aiello, Russel, additional, Modesti, Nicholson, additional, Mutua, Sylvia, additional, Yu, Emily, additional, Woidill, Sarah, additional, Schmidt, Johanna L., additional, Pizzino, Amy, additional, Shults, Justine, additional, Vanderver, Adeline, additional, and Adang, Laura A., additional

Published
2024
Full Text
View/download PDF

8. Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy

Author

Mutua, Sylvia, primary, Sevagamoorthy, Anjana, additional, Gavazzi, Francesco, additional, Thakur, Nivedita, additional, Woidill, Sarah, additional, Yu, Emily, additional, Fumagalli, Francesca, additional, Groeschel, Samuel, additional, Bernard, Genevieve, additional, Stutterd, Chloe, additional, Kehrer, Christiane, additional, Emrick, Lisa, additional, Shults, Justine, additional, Vanderver, Adeline, additional, and Adang, Laura A., additional

Published
2024
Full Text
View/download PDF

9. Systemic Complications of Aicardi Goutières Syndrome Using Real World Data

Author

de Barcelos, Isabella Peixoto, primary, Jan, Amanda, additional, Modesti, Nicholson, additional, Woidill, Sarah, additional, Gavazzi, Francesco, additional, Isaacs, David, additional, D’Aiello, Russell, additional, Sevagamoorthy, Anjana, additional, Charlton, Lauren, additional, Pizzino, Amy, additional, Schmidt, Johanna, additional, Van Haren, Keith, additional, Keller, Stephanie, additional, Eichler, Florian, additional, Emrick, Lisa, additional, Fraser, Jamie L., additional, Shults, Justine, additional, Vanderver, Adeline, additional, and Adang, Laura Ann, additional

Published
2024
Full Text
View/download PDF

10. Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

Author

Gavazzi, Francesco, primary, Patel, Virali, additional, Charsar, Brittany, additional, Glanzman, Allan, additional, Erler, Jacqueline, additional, Sevagamoorthy, Anjana, additional, McKenzie, Emma, additional, Kornafel, Tracy, additional, Ballance, Elizabeth, additional, Pierce, Samuel R., additional, Teng, Michelle, additional, Formanowski, Brielle, additional, Woidill, Sarah, additional, Shults, Justine, additional, Wassmer, Evangeline, additional, Tonduti, Davide, additional, Magrinelli, Francesca, additional, Bernard, Geneviève, additional, Van Der Knaap, Marjo, additional, Wolf, Nicole, additional, Adang, Laura, additional, and Vanderver, Adeline, additional

Published
2023
Full Text
View/download PDF

15. Preservation of cognitive skills in Aicardi Goutières syndrome.

Author

Gavazzi, Francesco, Vaia, Ylenia, Woidill, Sarah, Formanowski, Brielle, de Barcelos, Isabella Peixoto, Sevagamoorthy, Anjana, Modesti, Nicholson, Cusack, Stacy, Vincent, Ariel, D'Aiello, Russell, Jawad, Abbas, Galli, Jessica, Varesio, Costanza, Fazzi, Elisa, Orcesi, Simona, Glanzman, ALlan, Lorch, Scott, DeMauro, Sara, Waldman, Amy, and Adang, Laura

Subjects
*AICARDI syndrome
Published
2024
Full Text
View/download PDF

16. Glial Origins of Inherited White Matter Disorders.

Author

Sevagamoorthy A, Vanderver A, Fraser JL, and Orthmann-Murphy J

Abstract

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically heterogeneous group of disorders affecting the central nervous system (CNS) with or without peripheral neuropathy. They are classified either as leukodystrophies (LDs), with primary glial abnormalities, or genetic leukoencephalopathies (gLEs), where other CNS cells are involved. As a group, these disorders are common, with an incidence of 1 in 7500 births. However, IWMDs often go undiagnosed or suffer delayed or misdiagnosis due to their heterogeneous presentation. Many of these disorders present with lethal secondary manifestations that can be prevented through early disease recognition, periodic surveillance, and preventative management. Emerging therapeutics, including gene therapy trials for metachromatic leukodystrophy (MLD) and adrenoleukodystrophy (ALD), suggest disease progression may be slowed or even prevented if treated early. Therapies for IWMDs that target glial cells or the peripheral immune system may provide novel insights for treating acquired disorders of white matter., (Copyright © 2024 Cold Spring Harbor Laboratory Press; all rights reserved.)

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results