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C

Christopher M. Gómez

department of neurology
H指数:54
被引数:9,914

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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

脊髓小脑性共济失调 (SCA27B) 的大型美国队列的临床，放射学和病理学特征

ANNALS OF NEUROLOGY
IF7.7
2024-09-124
OA
Abou Chaar, Widad; Eranki, Anirudh N.; Stevens, Hannah A.; Watson, Sonya L.; Wong, Darice Y.; Avila, Veronica S.; Delfeld, Megan; Gary, Alexander J.; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J.; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josee; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C.; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G.; Collins, John; Clark, H. Brent; Das, Soma; Fogel, Brent L.; Gomez, Christopher M.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
NEUROLOGY
IF8.5
2023-01-3131
OAAI
Ronco, Riccardo; Perini, Cecilia; Curro, Riccardo; Dominik, Natalia; Facchini, Stefano; Gennari, Alice; Simone, Roberto; Stuart, Skye; Nagy, Sara; Vegezzi, Elisa; Quartesan, Ilaria; El-Saddig, Amar; Lavin, Timothy; Tucci, Arianna; Szymura, Agnieszka; Novis De Farias, Luiz Eduardo; Gary, Alexander; Delfeld, Megan; Kandikatla, Priscilla; Niu, Nifang; Tawde, Sanjukta; Shaw, Joseph; Polke, James; Reilly, Mary M.; Wood, Nick W.; Crespan, Emmanuele; Gomez, Christopher; Chen, Jin Yun Helen; Schmahmann, Jeremy Dan; Gosal, David; Houlden, Henry; Das, Soma; Cortese, Andrea
A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia
FRONTIERS IN MOLECULAR BIOSCIENCES
IF4
2022-09-055
OAAI
Rodden, Layne N. N.; Rummey, Christian; Dong, Yi Na; Lagedrost, Sarah; Regner, Sean; Brocht, Alicia; Bushara, Khalaf; Delatycki, Martin B. B.; Gomez, Christopher M. M.; Mathews, Katherine; Murray, Sarah; Perlman, Susan; Ravina, Bernard; Subramony, S. H.; Wilmot, George; Zesiewicz, Theresa; Bolotta, Alessandra; Domissy, Alain; Jespersen, Christine; Ji, Baohu; Soragni, Elisabetta; Gottesfeld, Joel M. M.; Lynch, David R. R.
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity
EMBO MOLECULAR MEDICINE
IF8.3
2021-10-1117
OAAI
Perez, Barbara A.; Shorrock, Hannah K.; Banez-Coronel, Monica; Zu, Tao; El Romano, Lisa; Laboissonniere, Lauren A.; Reid, Tammy; Ikeda, Yoshio; Reddy, Kaalak; Gomez, Christopher M.; Bird, Thomas; Ashizawa, Tetsuo; Schut, Lawrence J.; Brusco, Alfredo; Berglund, J. Andrew; Hasholt, Lis F.; Nielsen, Jorgen E.; Subramony, S. H.; Ranum, Laura P. W.
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2020-08-016
OAAI
Yang, Chen-Ya; Lai, Ruo-Yah; Amokrane, Nadia; Lin, Chi-Ying; Figueroa, Karla P.; Pulst, Stefan M.; Perlman, Susan; Wilmot, George; Gomez, Christopher M.; Schmahmann, Jeremy D.; Paulson, Henry; Shakkottai, Vikram G.; Rosenthal, Liana S.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Troche, Michelle S.; Kuo, Sheng-Han

研究方向

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S
Susan Perlman
H 指数:59论文数:268被引数:1.0万
G
George Wilmot
H 指数:30论文数:92被引数:3,301
K
Khalaf Bushara
H 指数:30论文数:131被引数:2,838
S
S. H. Subramony
H 指数:45论文数:222被引数:1.0万
T
Theresa A. Zesiewicz
H 指数:43论文数:228被引数:6,056
J
Jeremy D. Schmahmann
H 指数:89论文数:411被引数:4.3万
T
Tetsuo Ashizawa
H 指数:72论文数:424被引数:1.9万
D
David R. Lynch
H 指数:73论文数:382被引数:2.7万
V
Vikram G. Shakkottai
H 指数:38论文数:136被引数:5,807
K
Katherine D. Mathews
H 指数:55论文数:289被引数:1.2万