关注
Kinga Szigeti
Kinga Szigeti
未知所在单位机构
在 buffalo.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Prostate stem cell antigen: a cell surface marker overexpressed in prostate cancer
RE Reiter, Z Gu, T Watabe, G Thomas, K Szigeti, E Davis, M Wahl, ...
Proceedings of the National Academy of Sciences 95 (4), 1735-1740, 1998
10161998
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
CY Chow, Y Zhang, JJ Dowling, N Jin, M Adamska, K Shiga, K Szigeti, ...
Nature 448 (7149), 68-72, 2007
5722007
Donanemab in early symptomatic Alzheimer disease: the TRAILBLAZER-ALZ 2 randomized clinical trial
JR Sims, JA Zimmer, CD Evans, M Lu, P Ardayfio, JD Sparks, AM Wessels, ...
Jama 330 (6), 512-527, 2023
5572023
MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
K Verhoeven, KG Claeys, S Züchner, JM Schröder, J Weis, C Ceuterick, ...
Brain 129 (8), 2093-2102, 2006
4352006
Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (An Evidence‐Based Review) Report of the …
JD England, GS Gronseth, G Franklin, GT Carter, LJ Kinsella, JA Cohen, ...
PM&R 1 (1), 14-22, 2009
4262009
Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Laboratory and Genetic Testing (An Evidence‐Based Review) Report of the American Academy of …
JD England, GS Gronseth, G Franklin, GT Carter, LJ Kinsella, JA Cohen, ...
PM&R 1 (1), 5-13, 2009
3552009
Charcot–marie–tooth disease
K Szigeti, JR Lupski
European Journal of Human Genetics 17 (6), 703-710, 2009
2972009
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
HM McLaughlin, R Sakaguchi, C Liu, T Igarashi, D Pehlivan, K Chu, ...
The American Journal of Human Genetics 87 (4), 560-566, 2010
2312010
Down-regulation of p27 is associated with development of colorectal adenocarcinoma metastases
GV Thomas, K Szigeti, M Murphy, G Draetta, M Pagano, M Loda
The American journal of pathology 153 (3), 681-687, 1998
2121998
Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence‐based review)
JD England, GS Gronseth, G Franklin, GT Carter, LJ Kinsella, JA Cohen, ...
Muscle & nerve 39 (1), 106-115, 2009
1192009
SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation
GM Saifi, K Szigeti, W Wiszniewski, ME Shy, K Krajewski, ...
Human mutation 25 (4), 372-383, 2005
1122005
Validation of olfactory deficit as a biomarker of Alzheimer disease
MR Woodward, CV Amrutkar, HC Shah, RHB Benedict, S Rajakrishnan, ...
Neurology: Clinical Practice 7 (1), 5-14, 2017
1042017
Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies
GM Saifi, K Szigeti, JG Snipes, CA Garcia, JR Lupski
Journal of investigative medicine 51 (5), 261, 2003
892003
Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence‐based review)
JD England, GS Gronseth, G Franklin, GT Carter, LJ Kinsella, JA Cohen, ...
Muscle & nerve 39 (1), 116-125, 2009
722009
T118M PMP22 mutation causes partial loss of function and HNPP‐like neuropathy
ME Shy, MT Scavina, A Clark, KM Krajewski, J Li, J Kamholz, E Kolodny, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
682006
Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management
K Szigeti, CA Garcia, JR Lupski
Genetics in Medicine 8 (2), 86-92, 2006
672006
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome
SA Yatsenko, AN Yatsenko, K Szigeti, WJ Craigen, P Stankiewicz, ...
Clinical genetics 66 (2), 128-136, 2004
622004
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
K Szigeti, W Wiszniewski, GM Saifi, DL Sherman, N Sule, AM Adesina, ...
Neurogenetics 8, 257-262, 2007
592007
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
K Szigeti, LJC Wong, CL Perng, GM Saifi, K Eldin, AM Adesina, DL Cass, ...
Journal of medical genetics 41 (2), 125-129, 2004
562004
Odor identification deficit in mild cognitive impairment and Alzheimer's disease is associated with hippocampal and deep gray matter atrophy
J Hagemeier, MR Woodward, UA Rafique, CV Amrutkar, N Bergsland, ...
Psychiatry Research: Neuroimaging 255, 87-93, 2016
552016
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