Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

por de Gusmao, Claudio M., Kok, Fernando, Casella, Erasmo Barbante, Waugh, Jeff L.
Publicado 2015

Paroxysmal Genetic Movement Disorders and Epilepsy

por de Gusmão, Claudio M., Garcia, Lucas, Mikati, Mohamad A., Su, Samantha, Silveira-Moriyama, Laura
Publicado 2021

Scoping Review on ADCY5‐Related Movement Disorders

por Menon, Poornima Jayadev, Nilles, Christelle, Silveira‐Moriyama, Laura, Yuan, Ruiyi, de Gusmao, Claudio M., Münchau, Alexander, Carecchio, Miryam, Grossman, Steve, Grossman, Gay, Méneret, Aurélie, Roze, Emmanuel, Pringsheim, Tamara
Publicado 2023

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

por Aboud Syriani, Dona, Wong, Darice, Andani, Sameer, De Gusmao, Claudio M., Mao, Yuanming, Sanyoura, May, Glotzer, Giacomo, Lockhart, Paul J., Hassin-Baer, Sharon, Khurana, Vikram, Gomez, Christopher M., Perlman, Susan, Das, Soma, Fogel, Brent L.
Publicado 2020

A framework for individualized splice-switching oligonucleotide therapy

por Kim, Jinkuk, Woo, Sijae, de Gusmao, Claudio M., Zhao, Boxun, Chin, Diana H., DiDonato, Renata L., Nguyen, Minh A., Nakayama, Tojo, Hu, Chunguang April, Soucy, Aubrie, Kuniholm, Ashley, Thornton, Jennifer Karlin, Riccardi, Olivia, Friedman, Danielle A., El Achkar, Christelle Moufawad, Dash, Zane, Cornelissen, Laura, Donado, Carolina, Faour, Kamli N. W., Bush, Lynn W., Suslovitch, Victoria, Lentucci, Claudia, Park, Peter J., Lee, Eunjung Alice, Patterson, Al, Philippakis, Anthony A., Margus, Brad, Berde, Charles B., Yu, Timothy W.
Publicado 2023