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K

Katarzyna Iwanicka-Pronicka

Children Memorial Health Institute
H指数:11
被引数:492

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Epilepsy as a Component of the Dysmorphic–Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants

癫痫作为具有复发性拷贝数变异的儿科患者中畸形-神经发育表型的一个组成部分

Genes
IF2.8
2026-02-270
OAAI
Marlena Młynek; Dorota Wicher; Agata Cieślikowska; Katarzyna Urbańska; Kamila Przywoźna-Zduńczyk; Urszula Zawadzka-Więch; Klaudia Markowska-Krawczyk; Aneta Bal; Sylwia Purwin; Danuta Sielska-Rotblum; Paulina Halat-Wolska; Piotr Iwanowski; Katarzyna Iwanicka-Pronicka; Maria Jędrzejowska; Monika Kowalczyk-Rusak; Justyna Pietrasik; Krystyna Chrzanowska; Dorota Domańska-Pakieła; Katarzyna Kotulska-Jóźwiak; Małgorzata Krajewska-Walasek; Agnieszka Madej-Pilarczyk
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease

从基因型到表型：63例CLPB相关线粒体疾病中合子特异性的见解

Molecular Genetics and Metabolism
IF3.5
2026-02-120
OAAI
Oliver Heath; Francisco Del Caño-Ochoa; Safa Baris; Rosalba Carrozzo; David Coman; Felix Distelmaier; Carolyn Ellaway; Rene G. Feichtinger; Andrea Finocchi; Sergio Guerrero-Castillo; Rebecca Halligan; Iris Hannibal; Amy Kritzer; Uta Lichter-Konecki; Kajus Merkevicius; Bianca Panis; Robert D.S. Pitceathly; Chiara Pizzamiglio; Katarzyna Iwanicka-Pronicka; Shamima Rahman
Pleiotropic effects of MORC2 derive from its epigenetic signature

MORC2的多种表型效应源于其表观遗传特征

BRAIN
IF11.7
2025-12-011
OAAI
Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
Rubinstein–Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants

鲁宾斯坦-塔比综合征：一项针对波兰队列的全面分析，其中大多数病例由新型CREBBP和EP300变异引起

Genes 2025, Vol. 16, Page 1206
IF0
2025-10-140
OAAI
Agata Cieślikowska; Agnieszka Madej-Pilarczyk; Piotr Iwanowski; Katarzyna Iwanicka-Pronicka; Dorota Wicher; Maria Jędrzejowska; Dorota Jurkiewicz; Marzena Gawlik; Dorota Piekutowska-Abramczuk; Paulina Halat-Wolska; Jagoda Błaszkiewicz; Izabela Mendrek; Krystyna Chrzanowska; Marlena Młynek; Piotr Stawiński; Joanna Kosińska; Małgorzata Krajewska-Walasek; Elżbieta Ciara
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

SERAC1相关MEGD(H)EL综合征的听力康复——来自多中心回顾性队列研究的启示

Molecular Genetics and Metabolism
IF3.5
2025-07-210
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
Genetic landscape of pediatric acute liver failure of indeterminate origin
HEPATOLOGY
IF15.8
2023-11-168
OAAI
Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

DNAJC30缺陷: 隐性Leber遗传性视神经病变和Leigh综合征的常见原因

BRAIN
IF11.7
2022-02-1125
OAAI
Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank; Prokisch, Holger
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-03-0147
OAAI
Piekutowska-Abramczuk, Dorota; Assouline, Zahra; Matakovic, Lavinija; Feichtinger, Rene G.; Konarikova, Eliska; Jurkiewicz, Elzbieta; Stawinski, Piotr; Gusic, Mirjana; Koller, Andreas; Pollak, Agnieszka; Gasperowicz, Piotr; Trubicka, Joanna; Ciara, Elzbieta; Iwanicka-Pronicka, Katarzyna; Rokicki, Dariusz; Hanein, Sylvain; Wortmann, Saskia B.; Sperl, Wolfgang; Rotig, Agnes; Prokisch, Holger; Pronicka, Ewa; Ploski, Rafa; Barcia, Giulia; Mayr, Johannes A.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
ANNALS OF NEUROLOGY
IF7.7
2017-12-2055
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.
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

患有m.9185T>C MTATP6变体的个体的Leigh综合征。过度换气是开始其发展的一个因素吗？

METABOLIC BRAIN DISEASE
IF3.5
2017-11-078
OAAI
Piekutowska-Abramczuk, Dorota; Rutyna, Rafal; Czyzyk, Elzbieta; Jurkiewicz, Elzbieta; Iwanicka-Pronicka, Katarzyna; Rokicki, Dariusz; Stachowicz, Sylwia; Strzemecka, Joanna; Guz, Wiesaw; Gawronski, Michal; Kosierb, Aneta; Ligas, Joanna; Puchala, Mateusz; Drelich-Zbroja, Anna; Bednarska-Makaruk, Malgorzata; Dabrowski, Wojciech; Ciara, Elzbieta; Ksiazyk, Janusz B.; Pronicka, Ewa

研究方向

暂未获取到该数据
D
Dorota Piekutowska‐Abramczuk
H 指数:26论文数:95被引数:2,204
S
Saskia B. Wortmann
H 指数:50论文数:260被引数:7,744
J
Johannes A. Mayr
H 指数:68论文数:389被引数:1.2万
H
Holger Prokisch
H 指数:100论文数:657被引数:4.9万
E
Elżbieta Jurkiewicz
H 指数:29论文数:226被引数:3,517
E
Elżbieta Ciara
H 指数:25论文数:145被引数:2,515
P
Peter Freisinger
H 指数:52论文数:208被引数:8,542
E
Ewa Pronicka
H 指数:36论文数:207被引数:5,163
R
Rafał Płoski
H 指数:58论文数:630被引数:1.4万
R
René Santer
H 指数:52论文数:267被引数:1.0万