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L

L. Jackson Roberts

Johns Hopkins University
H指数:93
被引数:3.3万

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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (vol 110, pg 105, 2023)

FGF14中的内含子GAA重复扩增导致常染色体显性成年型共济失调SCA27B/ATX-FGF14 (110卷，105页，2023页)

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-06-0131
OAAI
Rafehi, Haloom; Read, Justin; Szmulewicz, David J.; Davies, Kayli C.; Snell, Penny; Fearnley, Liam G.; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F.; Munro, Jacob E.; Ngo, Kathie J.; Chen, Luke; Wallis, Mathew J.; Butler, Ernest G.; Kumar, Kishore R.; Wu, Kathy HC.; Tomlinson, Susan E.; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A.; Roberts, Leslie J.; Fogel, Brent L.; Bruggemann, Norbert; Lohmann, Katja; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-01-0194
OAAI
Rafehi, Haloom; Read, Justin; Szmulewicz, David J.; Davies, Kayli C.; Snell, Penny; Fearnley, Liam G.; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F.; Munro, Jacob E.; Ngo, Kathie J.; Chen, Luke; Wallis, Mathew J.; Butler, Ernest G.; Kumar, Kishore R.; Wu, Kathy H. C.; Tomlinson, Susan E.; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A.; Roberts, Leslie J.; Fogel, Brent L.; Bruggemann, Norbert; Lohmann, Katja; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J.
Mitochondrial Isolevuglandins Contribute to Vascular Oxidative Stress and Mitochondria-Targeted Scavenger of Isolevuglandins Reduces Mitochondrial Dysfunction and Hypertension
HYPERTENSION
IF8.2
2020-12-0123
OAAI
Dikalova, Anna; Mayorov, Vladimir; Xiao, Liang; Panov, Alexander; Amarnath, Venkataraman; Zagol-Ikapitte, Irene; Vergeade, Aurelia; Ao, Mingfang; Yermalitsky, Valery; Nazarewicz, Rafal R.; Boutaud, Olivier; Lopez, Marcos G.; Billings, Frederic T.; Davies, Sean; Roberts, L. Jackson, II; Harrison, David G.; Dikalov, Sergey
Cell-free hemoglobin mediated oxidative stress is associated with acute kidney injury and renal replacement therapy in severe falciparum malaria: an observational study
BMC INFECTIOUS DISEASES
IF3
2017-04-2771
OAAI
Plewes, Katherine; Kingston, Hugh W. F.; Ghose, Aniruddha; Maude, Richard J.; Herdman, M. Trent; Leopold, Stije J.; Ishioka, Haruhiko; Hasan, Md. Mahtab Uddin; Haider, Md. Shafiul; Alam, Shamsul; Piera, Kim A.; Charunwatthana, Prakaykaew; Silamut, Kamolrat; Yeo, Tsin W.; Faiz, Md. Abul; Lee, Sue J.; Mukaka, Mavuto; Turner, Gareth D. H.; Anstey, Nicholas M.; Roberts, L. Jackson, II; White, Nicholas J.; Day, Nicholas P. J.; Hossain, Md. Amir; Dondorp, Arjen M.

研究方向

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J
Jason D. Morrow
H 指数:125论文数:722被引数:5.2万
S
Sean S. Davies
H 指数:47论文数:209被引数:8,358
O
Olivier Boutaud
H 指数:38论文数:170被引数:4,191
T
Thomas J. Montine
H 指数:115论文数:734被引数:6.1万
J
Joshua P. Fessel
H 指数:40论文数:120被引数:5,396
V
Venkataraman Amarnath
H 指数:33论文数:155被引数:3,509
H 指数:0论文数:51被引数:2,575
D
David J. Szmulewicz
H 指数:25论文数:115被引数:2,394
R
Raymond L. Mernaugh
H 指数:27论文数:95被引数:2,970
J
John A. Oates
H 指数:107论文数:495被引数:4.6万