Not logged in Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia Alecu, Julian E.; Saffari, Afshin; Ziegler, Marvin; Jordan, Catherine; Tam, Amy; Kim, Soyoung; Leung, Edward; Szczaluba, Krzysztof; Mierzewska, Hanna; King, Staci D.; Santorelli, Filippo M.; Yoon, Grace; Trombetta, Bianca; Kivisaekk, Pia; Zhang, Bo; Sahin, Mustafa; Ebrahimi-Fakhari, Darius Share Save
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha Share Save
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases Lugowska, Agnieszka; Baydakova, Galina; Ilyushkina, Alex; Zakharova, Ekaterina; Mierzewska, Hanna; Szymanska, Krystyna; Wierzba, Jolanta; Kubalska, Jolanta; Graban, Alla; Kmiec, Tomasz; Perkowska-Sumila, Barbara; Tylki-Szymanska, Anna; Bednarska-Makaruk, Malgorzata Share Save
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C Pelletier, Felixe; 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; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-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, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; 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; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, 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 A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve Share Save
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Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy 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 Share Save
Natural History of Vanishing White Matter Hamilton, Eline M. C.; van der Lei, Hannemieke D. W.; Vermeulen, Gerre; Gerver, Jan A. M.; Lourenco, Charles M.; Naidu, Sakkubai; Mierzewska, Hanna; Gemke, Reinoud J. B. J.; de Vet, Henrica C. W.; Uitdehaag, Bernard M. J.; Lissenberg-Witte, Birgit I.; van der Knaap, Marjo S. Share Save
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs Smigiel, Robert; Landsberg, Gerd; Schilling, Maximilian; Rydzanicz, Malgorzata; Pollak, Agnieszka; Walczak, Anna; Stodolak, Anna; Stawinski, Piotr; Mierzewska, Hanna; Sasiadek, Maria M.; Gruss, Oliver J.; Ploski, Rafal Share Save
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy Mendes, Marisa I.; Salazar, Mariana Gutierrez; 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, Genevieve Share Save
Diffuse hypomyelination is not obligate for POLR3-related disorders La Piana, Roberta; Cayami, Ferdy K.; Tran, Luan T.; Guerrero, Kether; van Spaendonk, Rosalina; Ounap, Katrin; Pajusalu, Sander; Haack, Tobias; Wassmer, Evangeline; Timmann, Dagmar; Mierzewska, Hanna; Poll-The, Bwee T.; Patel, Chirag; Cox, Helen; Atik, Tahir; Onay, Huseyin; Ozkinay, Ferda; Vanderver, Adeline; van der Knaap, Marjo S.; Wolf, Nicole I.; Bernard, Genevieve Share Save
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females Bartnik, Magdalena; Derwinska, Katarzyna; Gos, Monika; Obersztyn, Ewa; Kolodziejska, Katarzyna E.; Erez, Ayelet; Szpecht-Potocka, Agnieszka; Fang, Ping; Terczynska, Iwona; Mierzewska, Hanna; Lohr, Naomi J.; Bellus, Gary A.; Reimschisel, Tyler; Bocian, Ewa; Mazurczak, Tadeusz; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency Böhm, M; Pronicka, E; Karczmarewicz, E; Pronicki, M; Piekutowska-Abramczuk, D; Sykut-Cegielska, J; Mierzewska, H; Hansikova, H; Vesela, K; Tesarova, M; Houstkova, H; Houstek, J; Zeman, J Share Save
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