Works by Szigeti, Kinga

Results: 30

Preliminary Validation of the Global Neuropsychological Assessment in Alzheimer's Disease and Healthy Volunteers.

Published in:

Assessment, 2022, v. 29, n. 4, p. 817, doi. 10.1177/1073191121991221

By:

Olson, Lauren T.;
Smerbeck, Alan;
Figueroa, Christina M.;
Raines, Jeremy M.;
Szigeti, Kinga;
Schretlen, David J.;
Benedict, Ralph H. B.

Publication type:

Article

The neurological disease ontology.

Published in:

Journal of Biomedical Semantics, 2013, v. 4, n. 1, p. 3, doi. 10.1186/2041-1480-4-42

By:

Jensen, Mark;
Cox, Alexander P.;
Chaudhry, Naveed;
Ng, Marcus;
Sule, Donat;
Duncan, William;
Weinstock-Guttman, Bianca;
Smith, Barry;
Ruttenberg, Alan;
Szigeti, Kinga;
Diehl, Alexander D.;
Ray, Patrick

Publication type:

Article

Human‐specific α7nAChR‐dependent adaptation to mechanical properties of the extracellular environment.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. S8, p. 1, doi. 10.1002/alz.095019

By:

Szombathy, Anna Marie;
Ihnatovych, Ivanna;
Dorn, Ryu;
Nimmer, Erik;
Heo, Yuna;
Bae, Yongho;
Szigeti, Kinga

Publication type:

Article

Human restricted CHRFAM7A mediates neuronal and innate immune gain of function.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. S6, p. 1, doi. 10.1002/alz.084418

By:

Szigeti, Kinga;
Ihnatovych, Ivanna;
Dorn, Ryu;
Rosas, Nicolas;
Gomez, Eduardo Cortes;
Wilding, Gregory;
Jianmin, Wang

Publication type:

Article

Overcoming Recruitment Challenges and Increasing Representation and Diversity of Participation in Early MCI Clinical Trials: The MIND Study Experience.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.083080

By:

Lewandowski, Agnes;
Newhouse, Paul A;
Aisen, Paul S. S;
Ismail, Andalib;
Andrews, Patricia;
Brody, Mark;
Goldstein, Mark;
Li, Clara;
Mintzer, Jacobo E;
Scharre, Douglas W.;
Szigeti, Kinga;
Turner, R. Scott;
Raman, Rema

Publication type:

Article

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Published in:

Nature, 2007, v. 448, n. 7149, p. 68, doi. 10.1038/nature05876

By:

Chow, Clement Y.;
Yanling Zhang;
Dowling, James J.;
Jin, Natsuko;
Adamska, Maja;
Shiga, Kensuke;
Szigeti, Kinga;
Shy, Michael E.;
Li, Jun;
Xuebao Zhang;
Lupski, James R.;
Weisman, Lois S.;
Meisler, Miriam H.

Publication type:

Article

Charcot–Marie–Tooth disease.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 703, doi. 10.1038/ejhg.2009.31

By:

Szigeti, Kinga;
Lupski, James R

Publication type:

Article

iPSC model of CHRFAM7A effect on α7 nicotinic acetylcholine receptor function in the human context.

Published in:

Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0375-z

By:

Ihnatovych, Ivanna;
Nayak, Tapan K.;
Ouf, Aya;
Sule, Norbert;
Birkaya, Barbara;
Chaves, Lee;
Auerbach, Anthony;
Szigeti, Kinga

Publication type:

Article

iPSC-Derived Microglia for Modeling Human-Specific DAMP and PAMP Responses in the Context of Alzheimer's Disease.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9668, doi. 10.3390/ijms21249668

By:

Ihnatovych, Ivanna;
Birkaya, Barbara;
Notari, Emily;
Szigeti, Kinga

Publication type:

Article

Cognitive Profiles of Aging in Multiple Sclerosis.

Published in:

Frontiers in Aging Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnagi.2019.00105

By:

Jakimovski, Dejan;
Weinstock-Guttman, Bianca;
Roy, Shumita;
Jaworski III, Michael;
Hancock, Laura;
Nizinski, Alissa;
Srinivasan, Pavitra;
Fuchs, Tom A.;
Szigeti, Kinga;
Zivadinov, Robert;
Benedict, Ralph H. B.

Publication type:

Article

T118M PMP22 mutation causes partial loss of function and HNPP‐like neuropathy.

Published in:

Annals of Neurology, 2006, v. 59, n. 2, p. 358

By:

Michael E. Shy;
Mena T. Scavina;
Alisa Clark;
Karen M. Krajewski;
Jun Li;
John Kamholz;
Edwin Kolodny;
Kinga Szigeti;
Richard A. Fischer;
Gulam Mustafa Saifi;
Steven S. Scherer;
James R. Lupski

Publication type:

Article

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.

Published in:

Annals of Neurology, 2003, v. 54, n. 3, p. 398

By:

Kinga Szigeti;
Gulam Mustafa Saifi;
Dawna Armstrong

Publication type:

Article

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Published in:

Neurogenetics, 2007, v. 8, n. 4, p. 257, doi. 10.1007/s10048-007-0094-0

By:

Szigeti, Kinga;
Wiszniewski, Wojciech;
Saifi, Gulam;
Sherman, Diane;
Sule, Norbert;
Adesina, Adekunle;
Mancias, Pedro;
Papasozomenos, Sozos;
Miller, Geoffrey;
Keppen, Laura;
Daentl, Donna;
Brophy, Peter;
Lupski, James

Publication type:

Article

210 Preliminary Validation of the Arabic Global Neuropsychological Assessment.

Published in:

2023

By:

Strohmeier, Andy;
Olson, Lauren;
Almukhtar, Riam;
Szigeti, Kinga;
Schretlen, David;
Cadzow, Renee;
Benedict, Ralph

Publication type:

Abstract

177 Education and Its Effects on Barriers to Clinical Trial Participation in Alzheimer's Disease Studies by Underrepresented Communities.

Published in:

2023

By:

Ziegler, Mallory;
Adams, Alexandrea;
Zhu, Jingtao;
Case, Allison;
Argueta, Natalie;
Regling, Ashley;
Wilding, Gregory;
Szigeti, Kinga

Publication type:

Abstract

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 372, doi. 10.1002/humu.20153

By:

Saifi, Gulam Mustafa;
Szigeti, Kinga;
Wiszniewski, Wojciech;
Shy, Michael E.;
Krajewski, Karen;
Hausmanowa-Petrusewicz, Irena;
Kochanski, Andrzej;
Reeser, Suzanne;
Mancias, Pedro;
Butler, Ian;
Lupski, James R.

Publication type:

Article

Role of Pharmacogenomics in Individualizing Treatment for Alzheimer's Disease.

Published in:

CNS Drugs, 2022, v. 36, n. 4, p. 365, doi. 10.1007/s40263-022-00915-3

By:

Argueta, Natalie;
Notari, Emily;
Szigeti, Kinga

Publication type:

Article

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Published in:

NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 243, doi. 10.1385/NMM:8:1-2:243

By:

Szigeti, Kinga;
Nelis, Eva;
Lupski, James

Publication type:

Article

Timing of Wnt Inhibition Modulates Directed Differentiation of Medial Ganglionic Eminence Progenitors from Human Pluripotent Stem Cells.

Published in:

Stem Cells International, 2018, p. 1, doi. 10.1155/2018/3983090

By:

Ihnatovych, Ivanna;
Lew, Alexandra;
Lazar, Evelyn;
Sheng, Anna;
Kellermayer, Timot;
Szigeti, Kinga

Publication type:

Article

Human restricted CHRFAM7A gene increases brain efficiency.

Published in:

Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1359028

By:

Jakimovski, Dejan;
Dorn, Ryu P.;
Del Regno, Megan;
Bartnik, Alexander;
Bergsland, Niels;
Ramanathan, Murali;
Dwyer, Michael G.;
Benedict, Ralph H. B.;
Zivadinov, Robert;
Szigeti, Kinga

Publication type:

Article

A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo.

Published in:

PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014346

By:

Antonellis, Anthony;
Dennis, Megan Y.;
Burzynski, Grzegorz;
Huynh, Jimmy;
Maduro, Valerie;
Hodonsky, Chani J.;
Khajavi, Mehrdad;
Szigeti, Kinga;
Mukkamala, Sandeep;
Bessling, Seneca L.;
Pavan, William J.;
McCallion, Andrew S.;
Lupski, James R.;
Green, Eric D.

Publication type:

Article

Fatigue in Family Caregivers of Individuals With Dementia: Associations of Sleep, Depression, and Care Recipients' Functionality.

Published in:

Journal of Gerontological Nursing, 2020, v. 46, n. 9, p. 14, doi. 10.3928/00989134-20200527-01

By:

Chang, Yu-Ping;
Lorenz, Rebecca A.;
Phillips, Meg;
Peng, Hsi-Ling;
Szigeti, Kinga

Publication type:

Article

P4‐675: CHOLINESTERASE INHIBITORS HAVE A DISEASE MODIFYING EFFECT IN AD RELATIVE TO CHRFAM7A GENOTYPE, SUGGESTING AN A7NACHR DEPENDENT MECHANISM.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1590, doi. 10.1016/j.jalz.2019.09.041

By:

Szigeti, Kinga;
Chen, Ziqiang;
Ouf, Aya;
Reisch, Joan;
Pavlik, Valory;
Wilding, Gregory

Publication type:

Article

P3‐203: FUNCTIONAL CHARACTERIZATION OF STRUCTURAL VARIANTS OF CHRFAM7A.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1007, doi. 10.1016/j.jalz.2019.06.3233

By:

Ihnatovych, Ivanna;
Nayak, Tapan;
Ouf, Aya;
Sule, Norbert;
Birkaya, Barbara;
Boyi, Trinithas;
Chaves, Lee;
Auerbach, Anthony;
Szigeti, Kinga

Publication type:

Article

Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease

Published in:

2012

By:

Szigeti, Kinga;
Li, Yanchun;
Shaw, Chad;
Sheffer, Irene;
Sule, Norbert;
Powell, Suzanne;
Zaidi, Noman;
Lupski, James;
Wilhelmsen, Kirk;
Doody, Rachelle

Publication type:

Abstract

Combined SNP and copy number variation haplotypes at the MAPT locus

Published in:

2009

By:

Sule, Norbert;
Li, Yanchun;
Szigeti, Kinga

Publication type:

Abstract

Olfactory receptor cluster copy number is associated with age at onset of Alzheimer's disease

Published in:

2009

By:

Szigeti, Kinga;
Shaw, Chad;
Li, Yanchun;
Lupski, James R.;
Belmont, John;
Doody, Rachelle S.

Publication type:

Abstract

Apolipoprotein E genotype impact on memory and attention in older persons: the moderating role of personality phenotype.

Published in:

2018

By:

Chapman, Benjamin P.;
Benedict, Ralph H. B.;
Lin, Feng;
Roy, Shumita;
Porteinsson, Antoine;
Szigeti, Kinga;
Federoff, Howard;
Mapstone, Mark

Publication type:

journal article

Should persons with autosomal dominant AD be included in clinical trials? Authors' response.

Published in:

2011

By:

Szigeti, Kinga;
Doody, Rachelle S.

Publication type:

Letter

Should EOAD patients be included in clinical trials?

Published in:

Alzheimer's Research & Therapy, 2011, v. 3, n. 1, p. 1, doi. 10.1186/alzrt63

By:

Szigeti, Kinga;
Doody, Rachelle S.

Publication type:

Article