AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

nork Szczałuba, Krzysztof, Mierzewska, Hanna, Śmigiel, Robert, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Stawiński, Piotr, Pollak, Agnieszka, Rydzanicz, Małgorzata, Płoski, Rafał
Argitaratua izan da J Appl Genet (2020)

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

nork Smigiel, Robert, Landsberg, Gerd, Schilling, Maximilian, Rydzanicz, Małgorzata, Pollak, Agnieszka, Walczak, Anna, Stodolak, Anna, Stawinski, Piotr, Mierzewska, Hanna, Sasiadek, Maria M., Gruss, Oliver J., Ploski, Rafal
Argitaratua izan da Eur J Hum Genet (2018)

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy

nork Szczepanik, Elzbieta, Mierzewska, Hanna, Antczak-Marach, Dorota, Figiel-Dabrowska, Anna, Terczynska, Iwona, Tryfon, Jolanta, Krzesniak, Natalia, Noszczyk, Bartlomiej Henryk, Sawicka, Ewa, Domanska-Janik, Krystyna, Sarnowska, Anna
Argitaratua izan da Stem Cells Int (2020)

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

nork Ługowska, Agnieszka, Baydakova, Galina, Ilyushkina, Alex, Zakharova, Ekaterina, Mierzewska, Hanna, Szymańska, Krystyna, Wierzba, Jolanta, Kubalska, Jolanta, Graban, Ałła, Kmieć, Tomasz, Perkowska-Sumiła, Barbara, Tylki-Szymańska, Anna, Bednarska-Makaruk, Małgorzata
Argitaratua izan da Diagnostics (Basel) (2021)

Diffuse hypomyelination is not obligate for POLR3-related disorders

nork La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Argitaratua izan da Neurology (2016)

Natural History of Vanishing White Matter

nork Hamilton, Eline M. C., van der Lei, Hannemieke D. W., Vermeulen, Gerre, Gerver, Jan A. M., Lourenço, Charles M., Naidu, Sakkubai, Mierzewska, Hanna, Gemke, Reinoud J. B. J., de Vet, Henrica C. W., Uitdehaag, Bernard M. J., Lissenberg‐Witte, Birgit I., Research Group, VWM, van der Knaap, Marjo S.
Argitaratua izan da Ann Neurol (2018)

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

nork Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I., Bernard, Geneviève
Argitaratua izan da Am J Hum Genet (2018)

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

nork Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
Argitaratua izan da J Clin Endocrinol Metab (2020)