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Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy Drovandi, Stefania; Lipska-Zietkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Zietkiewicz, Szymon; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schijvens, Anne M.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Deng, Fang; Rousset-Rouviere, Caroline; Stanczyk, Malgorzata; Balasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Serna Higuita, Lina Maria; Schaefer, Franz; Trautmann, Agnes; Tabatabaeifar, Mansoureh; Gheissari, Alaleh; Hooman, Nakysa; Benetti, Elisa; Emma, Francesco; Nigmatullina, Nazym; Tkaczyk, Marcin; Borzecka, Halina; Tsygin, Alexey N.; Prikhodina, Larisa; Bogdanovic, Radovan; Mir, Sevgi; Fomina, Svitlana; Klopstock, Thomas; Prokisch, Holger; Kornblum, Cornelia; Liu, Cui-Hua; Sun, Shu-Zhen; Dong, Yang; Wang, Xiao-Wen; Luan, Jiang-Wei; Schaefer, Franz Share Save
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stuelpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A. Share Save
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency (Jun, 10.1038/s41436-021-01194-x, 2021) Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; von Stulpnagel, Celina; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A.; Wevers, Ron A. Share Save
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder Wortmann, Saskia B.; Zietkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B.; Gersting, Soren W.; Muntau, Ania C.; Rakovic, Aleksandar; Renkema, G. Herma; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Rubio-Gozalbo, M. Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H.; van Karnebeek, Clara; Lillquist, Yolanda; Luecke, Thomas; Ounap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N.; Vaz, Frederic M.; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A. A. P.; de Brouwer, Arjan P. M.; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A. Share Save
Disruption of Ionic Interactions between the Nucleotide Binding Domain 1 (NBD1) and Middle (M) Domain in Hsp100 Disaggregase Unleashes Toxic Hyperactivity and Partial Independence from Hsp70 Lipinska, Natalia; Zietkiewicz, Szymon; Sobczak, Alicja; Jurczyk, Agnieszka; Potocki, Wojciech; Morawiec, Ewa; Wawrzycka, Aleksandra; Gumowski, Krzysztof; Slusarz, Magdalena; Rodziewicz-Motowidlo, Sylwia; Chrusciel, Elzbieta; Liberek, Krzysztof Share Save
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c.1810C>T Polymorphism of NTRK1 Gene is associated with reduced Survival in Neuroblastoma Patients Lipska-Zietkiewicz, Beata S.; Drozynska, Elzbieta; Scaruffi, Paola; Tonini, Gian Paolo; Izycka-Swieszewska, Ewa; Zietkiewicz, Szymon; Balcerska, Anna; Perek, Danuta; Chybicka, Alicja; Biernat, Wojciech; Limon, Janusz Share Save
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