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M

Monika Oláhová

newcastle university
H指数:24
被引数:2,222

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Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Clinical Genetics
IF2.3
2025-06-290
OA
Mahmoud R. Fassad; Sebastian Valenzuela; Monika Oláhová; Jack J. Collier; Charlotte V. Y. Knowles; Eleni Mavraki; Miriam Elbracht; Nergis Güzel; Thomas Herberhold; Ingo Kurth; Andrea Maier; Larissa Mattern; Carol Saunders; Helen McCullagh; Katrin Õunap; Saskia B. Wortmann; Andre Reis; Lei Zhang; Claes M. Gustafsson; Robert McFarland; Robert W. Taylor
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
OAAI
Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G.
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault- syndrome-spectrum phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-012
OAAI
Smith, Thomas B.; Kopajtich, Robert; Demain, Leigh A. M.; Rea, Alessandro; Thomas, Huw B.; Schiff, Manuel; Beetz, Christian; Joss, Shelagh; Conway, Gerard S.; Shukla, Anju; Yeole, Mayuri; Radhakrishnan, Periyasamy; Azzouz, Hatem; Ben Chehida, Amel; Elmaleh-Berges, Monique; Glasgow, Ruth I. C.; Thompson, Kyle; Olahova, Monika; He, Langping; Jenkinson, Emma M.; Jahic, Amir; Belyantseva, Inna A.; Barzik, Melanie; Urquhart, Jill E.; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Carrera, Samantha; Blakes, Alexander J. M.; Banka, Siddharth; Yue, Wyatt W.; Ellingford, Jamie M.; Houlden, Henry; DDD Study, D. D. D.; Munro, Kevin J.; Friedman, Thomas B.; Taylor, Robert W.; Prokisch, Holger; Keefe, Raymond T.; Newman, William G.
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO MOLECULAR MEDICINE
IF8.3
2024-11-201
PRE
Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-08-096
OAAI
Smith, Thomas B.; Rea, Alessandro; Thomas, Huw B.; Thompson, Kyle; Olahova, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava Shaul; Gilboa, Tal; Herman, Kristin C.; McCorvie, Thomas J.; Yue, Wyatt W.; Houlden, Henry; Taylor, Robert W.; Newman, William G.; O'Keefe, Raymond T.
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families
CELLS
IF5.2
2022-10-071
OAAI
Aldosary, Mazhor; Alsagob, Maysoon; AlQudairy, Hanan; Gonzalez-Alvarez, Ana C.; Arold, Stefan T.; Dababo, Mohammad Anas; Alharbi, Omar A.; Almass, Rawan; AlBakheet, AlBandary; AlSarar, Dalia; Qari, Alya; Al-Ansari, Mysoon M.; Olahova, Monika; Al-Shahrani, Saif A.; AlSayed, Moeenaldeen; Colak, Dilek; Taylor, Robert W.; AlOwain, Mohammed; Kaya, Namik
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms
LIFE SCIENCE ALLIANCE
IF2.9
2022-08-0113
OA
Nolden, Kelsey A.; Egner, John M.; Collier, Jack J.; Russell, Oliver M.; Alston, Charlotte L.; Harwig, Megan C.; Widlansky, Michael E.; Sasorith, Souphatta; Barbosa, Ines A.; Douglas, Andrew Gl; Baptista, Julia; Walker, Mark; Donnelly, Deirdre E.; Morris, Andrew A.; Tan, Hui Jeen; Kurian, Manju A.; Gorman, Kathleen; Mordekar, Santosh; Deshpande, Charu; Samanta, Rajib; McFarland, Robert; Hill, R. Blake; Taylor, Robert W.; Olahova, Monika
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2021-06-2498
OA
Collier, Jack J.; Guissart, Claire; Olahova, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; Suomi, Fumi; Zhang, David; Martinez-Lopez, Nuria; Leboucq, Nicolas; Bahr, Angela; Azzarello-Burri, Silvia; Reich, Selina; Schoels, Ludger; Polvikoski, Tuomo M.; Meyer, Pierre; Larrieu, Lise; Schaefer, Andrew M.; Alsaif, Hessa S.; Alyamani, Suad; Zuchner, Stephan; Barbosa, Ines A.; Deshpande, Charu; Pyle, Angela; Rauch, Anita; Synofzik, Matthis; Alkuraya, Fowzan S.; Rivier, Francois; Ryten, Mina; McFarland, Robert; Delahodde, Agnes; McWilliams, Thomas G.; Koenig, Michel; Taylor, Robert W.
POLRMT mutations impair mitochondrial transcription causing neurological disease
NATURE COMMUNICATIONS
IF15.7
2021-02-1829
OAAI
Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt; Diaz-Maldonado, Hector; Singh, Meenakshi; Sommerville, Ewen W.; Blakely, Emma L.; Collier, Jack J.; Hoberg, Emily; Stranecky, Viktor; Hartmannova, Hana; Bleyer, Anthony J.; McBride, Kim L.; Bowden, Sasigarn A.; Korandova, Zuzana; Pecinova, Alena; Ropers, Hans-Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Tarnopolsky, Mark A.; Brady, Lauren I.; Weaver, K. Nicole; Prada, Carlos E.; Ounap, Katrin; Wojcik, Monica H.; Pajusalu, Sander; Syeda, Safoora B.; Pais, Lynn; Estrella, Elicia A.; Bruels, Christine C.; Kunkel, Louis M.; Kang, Peter B.; Bonnen, Penelope E.; Mracek, Tomas; Kmoch, Stanislav; Gorman, Grainne S.; Falkenberg, Maria; Gustafsson, Claes M.; Taylor, Robert W.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
HUMAN MOLECULAR GENETICS
IF3.2
2018-10-0421
OAAI
Sommerville, Ewen W.; Zhou, Xiao-Long; Olahova, Monika; Jenkins, Janda; Euro, Liliya; Konovalova, Svetlana; Hilander, Taru; Pyle, Angela; He, Langping; Habeebu, Sultan; Saunders, Carol; Kelsey, Anna; Morris, Andrew A. M.; McFarland, Robert; Suomalainen, Anu; Gorman, Grainne S.; Wang, En-Duo; Thiffault, Isabelle; Tyynismaa, Henna; Taylor, Robert W.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
GENETICS IN MEDICINE
IF6.2
2018-10-0137
OAAI
Boczonadi, Veronika; King, Martin S.; Smith, Anthony C.; Olahova, Monika; Bansagi, Boglarka; Roos, Andreas; Eyassu, Filmon; Borchers, Christoph; Ramesh, Venkateswaran; Lochmueller, Hanns; Polvikoski, Tuomo; Whittaker, Roger G.; Pyle, Angela; Griffin, Helen; Taylor, Robert W.; Chinnery, Patrick F.; Robinson, Alan J.; Kunji, Edmund R. S.; Horvath, Rita
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
EMBO MOLECULAR MEDICINE
IF8.3
2018-09-1056
OAAI
Thompson, Kyle; Mai, Nicole; Olahova, Monika; Scialo, Filippo; Formosa, Luke E.; Stroud, David A.; Garrett, Madeleine; Lax, Nichola Z.; Robertson, Fiona M.; Jou, Cristina; Nascimento, Andres; Ortez, Carlos; Jimenez-Mallebrera, Cecilia; Hardy, Steven A.; He, Langping; Brown, Garry K.; Marttinen, Paula; McFarland, Robert; Sanz, Alberto; Battersby, Brendan J.; Bonnen, Penelope E.; Ryan, Michael T.; Chrzanowska-Lightowlers, Zofia M. A.; Lightowlers, Robert N.; Taylor, Robert W.
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-07-0140
OAAI
Xu, Zhiwen; Lo, Wing-Sze; Beck, David B.; Schuch, Luise A.; Olahova, Monika; Kopajtich, Robert; Chong, Yeeting E.; Alston, Charlotte L.; Seidl, Elias; Zhai, Liting; Lau, Ching-Fun; Timchak, Donna; LeDuc, Charles A.; Borczuk, Alain C.; Teich, Andrew F.; Juusola, Jane; Sofeso, Christina; Mueller, Christoph; Pierre, Germaine; Hilliard, Tom; Turnpenny, Peter D.; Wagner, Matias; Kappler, Matthias; Brasch, Frank; Bouffard, John Paul; Nangle, Leslie A.; Yang, Xiang-Lei; Zhang, Mingjie; Taylor, Robert W.; Prokisch, Holger; Griese, Matthias; Chung, Wendy K.; Schimmel, Paul
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-03-0164
OAAI
Olahova, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M.; Kyle, Jennifer E.; Grove, Megan E.; Fisk, Dianna G.; Kohler, Jennefer N.; Holmes, Matthew; Dries, Annika M.; Huang, Yong; Zhao, Chunli; Contrepois, Kevin; Zappala, Zachary; Fresard, Laure; Waggott, Daryl; Zink, Erika M.; Kim, Young-Mo; Heyman, Heino M.; Stratton, Kelly G.; Webb-Robertson, Bobbie-Jo M.; Snyder, Michael; Merker, Jason D.; Montgomery, Stephen B.; Fisher, Paul G.; Feichtinger, Rene G.; Mayr, Johannes A.; Hall, Julie; Barbosa, Ines A.; Simpson, Michael A.; Deshpande, Charu; Waters, Katrina M.; Koeller, David M.; Metz, Thomas O.; Morris, Andrew A.; Schelley, Susan; Cowan, Tina; Friederich, Marisa W.; McFarland, Robert; Van Hove, Johan L. K.; Enns, Gregory M.; Yamamoto, Shinya; Ashley, Euan A.; Wangler, Michael F.; Taylor, Robert W.; Bellen, Hugo J.; Bernstein, Jonathan A.; Wheeler, Matthew T.

研究方向

暂未获取到该数据
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万
L
Langping He
H 指数:35论文数:133被引数:4,286
R
Robert McFarland
H 指数:68论文数:370被引数:1.6万
C
Charlotte L. Alston
H 指数:48论文数:143被引数:7,672
J
Jack J. Collier
H 指数:10论文数:21被引数:851
H
Holger Prokisch
H 指数:100论文数:657被引数:4.9万
H 指数:0论文数:88被引数:1,657
Z
Zofia M. Chrzanowska‐Lightowlers
H 指数:46论文数:133被引数:5,956
R
Robert N. Lightowlers
H 指数:60论文数:187被引数:1.4万
A
Angela Pyle
H 指数:53论文数:170被引数:9,019