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Dokumenttyp:
journal article 
Autor(en):
Dallabona, Cristina; Diodato, Daria; Kevelam, Sietske H; Haack, Tobias B; Wong, Lee-Jun; Salomons, Gajja S; Baruffini, Enrico; Melchionda, Laura; Mariotti, Caterina; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Chapman, Kim; Colley, Alison; Rocha, Helena; Ounap, Katrin; Schiffmann, Raphael; Salsano, Ettore; Savoiardo, Mario; Hamilton, Eline M; Abbink, Truus E M; Wolf, Nicole I; Ferrero, Ileana; Lamperti, Costanza; Zeviani, Massimo; Vanderver, Adeline; Ghezzi, Daniele; van der Knaap, Marjo...    »
 
Titel:
Novel (ovario) leukodystrophy related to AARS2 mutations. 
Abstract:
The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared by patients with this phenotype.Independent next-generation exome-sequencing studies were performed in 2 unrelated patients with a leukoencephalopathy. MRI findings in these patients were compared with available MRIs in a database of unclassified leukoencephalop...    »
 
Zeitschriftentitel:
Neurology 
Jahr:
2014 
Band / Volume:
82 
Heft / Issue:
23 
Seitenangaben Beitrag:
2063-71 
Sprache:
eng 
Print-ISSN:
0028-3878 
TUM Einrichtung:
Institut für Humangenetik