Genotypic Differences in Networks Supporting Regional Predictors of Speech Rate in Spinocerebellar Ataxia: Preliminary Observations

por Sidtis, John J., Gomez, Christopher M.
Publicado 2021

Revelations from a bicistronic calcium channel gene

por Du, Xiaofei, Semler, Bert L, Gomez, Christopher M
Publicado 2014

Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study

por Brouillette, Ashley M., Öz, Gülin, Gomez, Christopher M.
Publicado 2015

Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report

por Eliyan, Yazan, Rezania, Kourosh, Gomez, Christopher M., Seibert, Kaitlin
Publicado 2023

Characterization of a chronic cough in cerebellar ataxia, neuropathy, vestibular areflexia syndrome

por Tatineni, Swetha, Jarrouj, George, Gomez, Christopher M., Baird, Brandon J.
Publicado 2023

The Transcription Factor, α1ACT, Acts Through a MicroRNA Network to Regulate Neurogenesis and Cell Death During Neonatal Cerebellar Development

por Wei, Cenfu, Benzow, Kellie, Koob, Michael D., Gomez, Christopher M., Du, Xiaofei
Publicado 2022

HER2 c-Terminal Fragments Are Expressed via Internal Translation of the HER2 mRNA

por Godfrey, Jack D., Hejazi, Daniel, Du, Xiaofei, Wei, Cenfu, Rao, Eshaan, Gomez, Christopher M.
Publicado 2022

Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6

por Tsou, Wei-Ling, Qiblawi, Sultan H., Hosking, Ryan R., Gomez, Christopher M., Todi, Sokol V.
Publicado 2016

Overexpression of the autism candidate gene Cyfip1 pathologically enhances olivo-cerebellar signaling in mice

por Busch, Silas E., Simmons, Dana H., Gama, Eric, Du, Xiaofei, Longo, Francesco, Gomez, Christopher M., Klann, Eric, Hansel, Christian
Publicado 2023

Intermuscular coherence in spinocerebellar ataxias 3 and 6: a preliminary study

por Issa, Naoum P., Aydin, Serdar, Bhatnagar, Shail, Baumgartner, Nicholas W., Hill, Jacquelyn, Aluri, Sravya, Valentic, Chloe S., Gomez, Christopher M., Rezania, Kourosh
Publicado 2023

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

por Xiao, Changrui, Binkley, Elaine M., Rexach, Jessica, Knight-Johnson, Amy, Khemani, Pravin, Fogel, Brent L., Das, Soma, Stone, Edwin M., Gomez, Christopher M.
Publicado 2019

Sensory Over-responsivity and Aberrant Plasticity in Cerebellar Cortex in a Mouse Model of Syndromic Autism

por Simmons, Dana H., Busch, Silas E., Titley, Heather K., Grasselli, Giorgio, Shih, Justine, Du, Xiaofei, Wei, Cenfu, Gomez, Christopher M., Piochon, Claire, Hansel, Christian
Publicado 2021

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

por Figueroa, Karla P., Waters, Michael F., Garibyan, Vartan, Bird, Thomas D., Gomez, Christopher M., Ranum, Laura P. W., Minassian, Natali A., Papazian, Diane M., Pulst, Stefan M.
Publicado 2011

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

por Chen, Dong-Hui, Latimer, Caitlin, Yagi, Mayumi, Ndugga-Kabuye, Mesaki Kenneth, Heigham, Elyana, Jayadev, Suman, Meabon, James S., Gomez, Christopher M., Keene, C. Dirk, Cook, David G., Raskind, Wendy H., Bird, Thomas D.
Publicado 2020

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

Psychometric properties of the Friedreich Ataxia Rating Scale

por Rummey, Christian, Corben, Louise A., Delatycki, Martin B., Subramony, S.H., Bushara, Khalaf, Gomez, Christopher M., Hoyle, Joseph Chad, Yoon, Grace, Ravina, Bernard, Mathews, Katherine D., Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Farmer, Jennifer M., Lynch, David R.
Publicado 2019

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort

por Rummey, Christian, Flynn, John M., Corben, Louise A., Delatycki, Martin B., Wilmot, George, Subramony, Sub H., Bushara, Khalaf, Duquette, Antoine, Gomez, Christopher M., Hoyle, J. Chad, Roxburgh, Richard, Seeberger, Lauren, Yoon, Grace, Mathews, Katherine D., Zesiewicz, Theresa, Perlman, Susan, Lynch, David R.
Publicado 2021

Vascular Risk Factors and Clinical Progression in Spinocerebellar Ataxias

por Lo, Raymond Y., Figueroa, Karla P., Pulst, Stefan M., Lin, Chi-Ying, Perlman, Susan, Wilmot, George, Gomez, Christopher M., Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah H., Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S. H., Ashizawa, Tetsuo, Kuo, Sheng-Han
Publicado 2015

Progression of Friedreich ataxia: quantitative characterization over 5 years

por Patel, Maya, Isaacs, Charles J., Seyer, Lauren, Brigatti, Karlla, Gelbard, Sarah, Strawser, Cassandra, Foerster, Debbie, Shinnick, Julianna, Schadt, Kimberly, Yiu, Eppie M., Delatycki, Martin B., Perlman, Susan, Wilmot, George R., Zesiewicz, Theresa, Mathews, Katherine, Gomez, Christopher M., Yoon, Grace, Subramony, Sub H., Brocht, Alicia, Farmer, Jennifer, Lynch, David R.
Publicado 2016

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

por Gan, Shi-Rui, Wang, Jie, Figueroa, Karla P., Pulst, Stefan M., Tomishon, Darya, Lee, Danielle, Perlman, Susan, Wilmot, George, Gomez, Christopher M., Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah H., Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael D., Xia, Guangbin, Subramony, S. H., Ashizawa, Tetsuo, Kuo, Sheng-Han
Publicado 2017