Zita Krūmiņa - Publications, H-index & Citations

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Zita Krūmiņa

Riga Stradiņš University

10H-index

42Paper Count

762Citation Count

Published Papers 9

Publication Date

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency

Brain

IF11.7

2025-11-14

OAAI

Kajus Merkevicius; Dmitrii Smirnov; Lea D Schlieben; Rebecca Ganetzky; René G Feichtinger; Huafang Jiang; Fang Fang; Tomohiro Ebihara; Kei Murayama; Giulia Ferrera; Anna Ardissone; Dariusz Rokicki; Dorota Wesol-Kucharska; Sabine Schröder; Peter Bauer; Aida Bertoli-Avella; Elsebeth Østergaard; Peter Freisinger; Mirian C H Janssen; Matias Wagner; Omar Abouyousef; Bader Alhaddad; Lama AlAbdi; Fowzan Alkuraya; Charlotte L Alston; Anna Baghdasaryan; Diana Barca; Ivo Barić; Marcello Bellusci; Andrea Bevot; Eugen Boltshauser; Ingo Borggraefe; Juliette Bouchereau; Claudio Bruno; Birute Burnyte; Amy Calhoun; Kari Casas; Mahmut Coker; Ellen Crushell; Pascal De Lonlay; Carlo Dionisi-Vici; Felix Distelmaier; Marni J Falk; Ana Cristina Ferreira; Carlos R Ferreira; Can Ficicioglu; Gulden Fatma Gokçay; Johannes Häberle; Oliver Heath; Albrecht Hellenschmidt; Julia Hoefele; Georg F Hoffmann; Tomas Honzik; Martina Huemer; Patrícia Janeiro; Amel Karaa; Çiğdem Seher Kasapkara; Ilse Kern; Joerg Klepper; Thomas Klopstock; Ina Knerr; Johannes Koch; Zita Krumina; Costanza Lamperti; Elise Lebigot; Zhimei Liu; Esther M Maier; Diego Martinelli; Robert McFarland; Bryce Mendelsohn; Maria Judit Molnar; Helen Mundy; Marie Cecile Nassogne; Anabela Oliveira; Katrin Õunap; Chiara Panicucci; Sumit Parikh; Heidi Peters; Samia Pichard; Barbara Plecko; Danijela P Ramadža; Gabriela M Repetto; Isabel Rivera; Richard J Rodenburg; Alessandro Rossi; Manuel Schiff; Kathrin Seidemann; Wendy E Smith; Sérgia Soares; Barbara Siri; Katja Steinbrucker; Pasquale Striano; Jolanta Sykut-Cegielska; Galit Tal; Robert W Taylor; Konstantinos Tsiakas; Sema Kalkan Ucar; Eva Hoytema van Konijnenburg; Mathias Woidy; Joy Yaplito-Lee; Yilmaz Yildiz; Martin Zenker; Petra Zsidegh; Dominik Westphal; Wolfgang Sperl; Thomas Meitinger; Garry K Brown; Holger Prokisch; Johannes A Mayr; Saskia B Wortmann; null

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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

Molecular Genetics and Metabolism

IF3.5

2025-07-21

OAAI

Sebastian Roesch; Anna O'Sullivan; Stefan Tschani; Anna Baghdasaryan; Shanti Balasubramaniam; Ivo Barić; Lonneke de Boer; Sarah C. Grünert; Anna Guzek; Mirian Janssen; Zita Krumina; Mary Kay Koenig; Ashleigh M. Lewkowitz; Fanny Mochel; Arianne Monge Naldi; Barbara Plecko; Kerem Öztürk; Lauren O'Grady; Gillian Riordan; Daisy Rymen; Inderneel Sahai; René Santer; Manuel Schiff; Georg M. Stettner; Konstantinos Tsiakas; Sema Kalkan Uçar; Özlem Ünal Uzun; Corina Weigel; Peter Witters; Kajus Merkevicius; Johannes A. Mayr; Saskia B. Wortmann; Katarzyna Iwanicka-Pronicka

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Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

NEUROLOGY-GENETICS

IF3.7

2022-06-01

OAAI

Lace, Baiba; Micule, Ieva; Kenina, Viktorija; Setlere, Signe; Strautmanis, Jurgis; Kazaine, Inese; Taurina, Gita; Murmane, Daiga; Grinfelde, Ieva; Kornejeva, Liene; Krumina, Zita; Sterna, Olga; Radovica-Spalvina, Ilze; Vasiljeva, Inta; Gailite, Linda; Stavusis, Janis; Livcane, Diana; Kidere, Dita; Malniece, Ieva; Inashkina, Inna

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-08-01

OAAI

Murakami, Yoshiko; Thi Tuyet Mai Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmueller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M.

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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

ANNALS OF NEUROLOGY

IF7.7

2017-12-20

OAAI

Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B.

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

HUMAN MOLECULAR GENETICS

IF3.2

2014-01-08

137

OAAI

Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Gil-Rodriguez, Maria Concepcion; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillen-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Perez-Aytes, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pie, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A.

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

NATURE GENETICS

IF31.8

2012-06-10

172

PREAI

Wortmann, Saskia B.; Vaz, Frederic M.; Gardeitchik, Thatjana; Vissers, Lisenka E. L. M.; Renkema, G. Herma; Schuurs-Hoeijmakers, Janneke H. M.; Kulik, Wim; Lammens, Martin; Christin, Christin; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Nijtmans, Leo G. J.; Gruenewald, Anne; Klein, Christine; Gerhold, Joachim M.; Kozicz, Tamas; van Hasselt, Peter M.; Harakalova, Magdalena; Kloosterman, Wigard; Baric, Ivo; Pronicka, Ewa; Ucar, Sema Kalkan; Naess, Karin; Singhal, Kapil K.; Krumina, Zita; Gilissen, Christian; van Bokhoven, Hans; Veltman, Joris A.; Smeitink, Jan A. M.; Lefeber, Dirk J.; Spelbrink, Johannes N.; Wevers, Ron A.; Morava, Eva; de Brouwer, Arjan P. M.

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Mucopolysaccharidosis Type II in Females and Response to Enzyme Replacement Therapy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-02-01

PREAI

Jurecka, Agnieszka; Krumina, Zita; Zbigniewzuber; Rozdzynska-Swiatkowska, Agnieszka; Kloska, Anna; Tylki-Szymanska, Anna

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Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2009-07-02

102

OAAI

Mencarelli, M. A.; Spanhol-Rosseto, A.; Artuso, R.; Rondinella, D.; De Filippis, R.; Bahi-Buisson, N.; Nectoux, J.; Rubinsztajn, R.; Bienvenu, T.; Moncla, A.; Chabrol, B.; Villard, L.; Krumina, Z.; Armstrong, J.; Roche, A.; Pineda, M.; Gak, E.; Mari, F.; Ariani, F.; Renieri, A.

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Research Directions