Hoffnungsbaum e.V. promotes research into NBIA disorders financially, non-materially and organizationally and provides information for physicians and those affected. Below is an overview of scientific publications in which the support provided by Hoffnungsbaum is acknowledged in the "Acknowledgements" or under "Funding".



A Scale to Assess Activities of Daily Living in PKAN
Randall D. Marshall, Abigail Collins, Maria L. Escolar et al.
Wiley Online Library


7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous PANK2 Mutation Carriers.
Petr Dusek, MD, PhD, Elena Maria Tovar Martinez, MD,, Vince Istvan Madai, MD, Robert Jech, MD, PhD et al.
Movement Disorders, clinical Practice



Beta-propeller protein associated neurodegeneration: a new x-linked dominant disorder with brain iron accumulation.
Susan J. Hayflick, Michael C. Kruer, Allison Gregory et al.
Brain - A journal of Neurology


Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Tobias B. Haack, Penelope Hogarth, Michael C. Kruer et al.
American Journal of Human Genetics - Elsevier


Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration.
Rainer Prohaska, Ody C.M. Sibon, Dobrila D. Rudnicki et al.
Neurobiology of Disease-Elsevier

03/ 2012

Transcranial ultrasound in neurodegeneration with brain iron accumulation
Jan Liman, Andreas Wellmer, Kevin Rostasy et al.
European Paediatric Neurology Society - Elsevier


Genotypic and Phenotypic Spectrum of PANK 2 mutations in patients with Neurodegeneration with brain iron accumulation
Monika B. Hartig MD, Konstanze Hörtnagel MD, Barbara Garavaglia PhD, et al.
Wiley Interscience



Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.
Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider
Frontiers in Neurology



Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)
Penelope Hogarth, Manju A. Kurian, Allison Gregory et al.
Molecular Genetics and Metabolism-Elsevier


Defective pantothenate metabolism and neurodegeneration.
Susan J. Hayflick
Biochemical Society Transactions


Early application of deep brain stimulation: clinical and ethical aspects
C. Woopen, KA Pauls, A. Koy, E. Moro, L. Timmermann


Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
Lars Timmermann, K. Amande Pauls, Karolin Wieland et al.
Brain, Journal of Neurology

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