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Number of items: 6.

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.

Poretti, Andrea; Wolf, Nicole I; Boltshauser, Eugen (2015). Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Neuropediatrics, 46(6):359-370.

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.

Dulac, Olivier; Plecko, Barbara; Gataullina, Svetlana; Wolf, Nicole I (2014). Occasional seizures, epilepsy, and inborn errors of metabolism. Lancet Neurology, 13(7):727-739.

Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T (2014). Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain, 137(5):1350-1360.

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 Mon Mar 18 16:59:11 2019 CET.