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Number of items: 4.

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; VWM Research Group; van der Knaap, Marjo S; Boltshauser, Eugen (2018). Natural History of Vanishing White Matter. Annals of Neurology, 84(2):274-288.

Hamilton, Eline M C; Bertini, Enrico; Kalaydjieva, Luba; Morar, Bharti; Dojčáková, Dana; Liu, Judy; Vanderver, Adeline; Curiel, Julian; Persoon, Claudia M; Diodato, Daria; Pinelli, Lorenzo; van der Meij, Nathalie L; Plecko, Barbara; Blaser, Susan; Wolf, Nicole I; Waisfisz, Quinten; Abbink, Truus E M; van der Knaap, Marjo S; Recessive H-ABC Research Group (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89(17):1821-1828.

Wolf, Nicole I; Vanderver, Adeline; van Spaendonk, Rosalina M L; Schiffmann, Raphael; Brais, Bernard; Bugiani, Marianna; Sistermans, Erik; Catsman-Berrevoets, Coriene; Kros, Johan M; Pinto, Pedro Soares; Pohl, Daniela; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Fribourg, Sébastien; Demos, Michelle; Pizzino, Amy; Naidu, Sakkubai; Guerrero, Kether; van der Knaap, Marjo S; Bernard, Geneviève (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology, 83(21):1898-1905.

Kevelam, Sietske H; Bugiani, Marianna; Salomons, Gajja S; Feigenbaum, Annette; Blaser, Susan; Prasad, Chitra; Häberle, Johannes; Barić, Ivo; Bakker, Ingrid M C; Postma, Nienke L; Kanhai, Warsha A; Wolf, Nicole I; Abbink, Truus E M; Waisfisz, Quinten; Heutink, Peter; van der Knaap, Marjo S (2013). Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain : a journal of neurology, 136(5):1534-1543.

This list was generated on Thu Sep 19 04:56:09 2019 CEST.