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S

Sita D. Gupta

uniformed services university of the health sciences
H指数:21
被引数:1,783

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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2023-11-246
OAAI
Syeda, Safoora B.; Lone, Museer A.; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; Franca, Marcondes C.; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D.; Lakhotia, Arpita; Shieh, Perry B.; Foley, A. Reghan; Jackson, Kelly E.; Chao, Katherine R.; Winder, Thomas L.; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M.; Hornemann, Thorsten; Bonnemann, Carsten G.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
BRAIN
IF11.7
2023-01-3014
OA
Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D.; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K. G.; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C.; Sadjadi, Reza; Elpeleg, Orly; Lee, Chia-Hsueh; Bellen, Hugo J.; Edvardson, Simon; Eichler, Florian; Dunn, Teresa M.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2022-08-107
OAAI
Fiorillo, Chiara; Capodivento, Giovanna; Geroldi, Alessandro; Tozza, Stefano; Moroni, Isabella; Mohassel, Payam; Cataldi, Matteo; Campana, Chiara; Morando, Simone; Panicucci, Chiara; Pedemonte, Marina; Brolatti, Noemi; Siliquini, Sabrina; Traverso, Monica; Baratto, Serena; Debellis, Doriana; Magri, Stefania; Prada, Valeria; Bellone, Emilia; Salpietro, Vincenzo; Donkervoort, Sandra; Gable, Kenneth; Gupta, Sita D.; Dunn, Teresa M.; Bonnemann, Carsten G.; Taroni, Franco; Bruno, Claudio; Schenone, Angelo; Mandich, Paola; Nobbio, Lucilla; Nolano, Maria
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
NATURE MEDICINE
IF50
2021-05-31101
OAAI
Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuss, Andrea; Koelbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Topf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Hoke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bonnemann, Carsten G.

研究方向

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K
Kenneth Gable
H 指数:27论文数:50被引数:2,544
T
Teresa Dunn
H 指数:51论文数:112被引数:7,985
G
Gongshe Han
H 指数:21论文数:32被引数:1,908
N
Niranjanakumari Somashekarappa
H 指数:19论文数:33被引数:1,599
J
Jeffrey M. Harmon
H 指数:27论文数:48被引数:2,347
P
Payam Mohassel
H 指数:27论文数:105被引数:2,562
R
Richard L. Proia
H 指数:83论文数:261被引数:3.2万
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.2万
C
Chia‐Hsueh Lee
H 指数:17论文数:37被引数:1,854
S
Sandra Donkervoort
H 指数:46论文数:312被引数:9,175