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Pantothenate kinase-associated neurodegeneration

Hartig, Monika B. ; Prokisch, Holger ; Meitinger, Thomas ; Klopstock, Thomas

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Hartig, Monika b ; Iuso, Arcangela ; Haack, Tobias ; Kmiec, Tomasz ; Jurkiewicz, Elzbieta ; Heim, Katharina ; Roeber, Sigrun ; Tarabin, Victoria ; Dusi, Sabrina ; Krajewska-Walasek, Malgorzata ; Jozwiak, Sergiusz ; Hempel, Maja ; Winkelmann, Juliane ; Elstner, Matthias ; Oexle, Konrad ; Klopstock, Thomas ; Mueller-Felber, Wolfgang ; Gasser, Thomas ; Trenkwalder, Claudia

The American Journal of Human Genetics, 2011, Vol.89(4), pp.543-550 [Rivista Peer Reviewed]

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Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Hartig, Monika B. ; Hörtnagel, Konstanze ; Garavaglia, Barbara ; Zorzi, Giovanna ; Kmiec, Tomasz ; Klopstock, Thomas ; Rostasy, Kevin ; Svetel, Marina ; Kostic, Vladimir S. ; Schuelke, Markus ; Botz, Evelyn ; Weindl, Adolf ; Novakovic, Ivana ; Nardocci, Nardo ; Prokisch, Holger ; Meitinger, Thomas

Annals of Neurology, February 2006, Vol.59(2), pp.248-256 [Rivista Peer Reviewed]

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