Hoffnungsbaum e.V. promotes research into NBIA diseases financially, ideally, and organizationally, and provides information for physicians and those affected. Below you will find an overview of scientific publications in which the support, Hoffnungsbaum is recognized in the "Acknowledgements" or under "Funding".
Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration
Petr Dusek, Ralf Mekle, Marta Skowronska et al.
Safety and efficacy of Deferiprone for pantothenate kinase-associated neurodegeneration: a randomized, double-blind, controlled trial and an open-label extension study
Thomas Klopstock, Fernando Tricta, Lynne Neumayr, Ivan Karin et al.
The Lancet Neurology
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
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.
The Convergence of Alpha-Synuclein, Mitochondrial, and Lysosomal Pathways in Vulnerability of Midbrain Dopaminergic Neurons in Parkinson's Disease
Georgia Minakaki, Dimitri Krainc, Lena F Burbulla
Frontiers in Cell and Developmental Biology
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)
Penelope Hogarth, Manju A. Kurian, Allison Gregory et al.
Molecular Genetics and Metabolism-Elsevier