Results 131 to 140 of about 21,243 (259)
Corrigendum to: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy [PDF]
, 2021 Riedhammer, Korbinian M.;Stockler, Sylvia;Ploski, Rafal;Wenzel, Maren;Adis-Dutschmann, Burkhard;Ahting, Uwe;Alhaddad, Bader;Blaschek, Astrid;Haack, Tobias B.;Kopajtich, Robert;Lee, Jessica;Pienkowski, Victor Murcia;Pollak, Agnieszka;Szymanska, Krystyna;Tarailo-Graovac, Maja;van der Lee, Robin;van Karnebeek, Clara D.;Meitinger, Thomas;Krageloh-Mann, Ingeborg;Vill, Katharinaopenalex +1 more sourceFurther Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy
, 2021 Guy Helman, Ayelet Zerem, Marisa A. Jeffries, Julia Hacker, Sarah Woidill, Sunetra Sase, Alexandra LeFevre, Josef Ekstein, Martin M. Johansson, Chloe Stutterd, Ryan J. Taft, Cas Simons, Judith B. Grinspan, Amy Pizzino, Johanna Schmidt, Brian Harding, Yoel Hirsch, Angela N. Viaene, Aviva Fattal‐Valevski, Adeline Vanderver +19 moreopenalex +2 more sourcesFour New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary [PDF]
, 2021 Z Szücs, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon, István Balogh +9 moreopenalex +1 more sourceAssessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies
Current Issues in Molecular BiologyLeukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still ...Paulo de Lima Serrano, Thaiane de Paulo Varollo Rodrigues, Leslyê Donato Pinto, Indiara Correia Pereira, Igor Braga Farias, Renan Brandão Rambaldi Cavalheiro, Patrícia Marques Mendes, Kaliny Oliveira Peixoto, João Paulo Barile, Daniel Delgado Seneor, Eduardo Gleitzmann Correa Silva, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Paulo Sgobbi +13 moredoaj +1 more sourceLentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
, 2022 Francesca Fumagalli, Valeria Calbi, Maria Grazia Natali Sora, Maria Sessa, Cristina Baldoli, Paola M. V. Rancoita, Francesca Ciotti, Marina Sarzana, Maddalena Fraschini, Alberto A. Zambon, Serena Acquati, Daniela Redaelli, Vanessa Attanasio, Simona Miglietta, Fabiola De Mattia, Federica Barzaghi, Francesca Ferrua, Maddalena Migliavacca, Francesca Tucci, Vera Gallo, Ubaldo Del Carro, Sabrina Canale, Ivana Spiga, Laura Lorioli, Salvatore Recupero, Elena Sophia Fratini, Francesco Morena, Paolo Silvani, Maria Rosa Calvi, Marcella Facchini, Sara Locatelli, Ambra Corti, Stefano Zancan, Gigliola Antonioli, Giada Farinelli, Michela Gabaldo, Jesus Garcia‐Segovia, Laetitia Schwab, Gerald Downey, Massimo Filippi, Maria Pia Cicalese, Sabata Martino, Clelia Di Serio, Fabio Ciceri, Maria Ester Bernardo, Luigi Naldini, Alessandra Biffi, Alessandro Aiuti +47 moreopenalex +1 more source