Publications
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".
Acknowledgements
10/2019
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.
Movement Disorders
07/2019
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
01/2019
A Scale to Assess Activities of Daily Living in PKAN
Randall D. Marshall, Abigail Collins, Maria L. Escolar et al.
Wiley Online Library
10/2014
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
10/2014
Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management
Penelope Hogarth
Journal of Movement Disorders
02/2013
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
02/2013
Mitochondrial membrane protein associated neurodegenerration: a novel variant of neurodegeneration with brain iron accumulation.
Eva C. Schulte, Malte C. Claussen et al.
Wiley Online Library
12/2012
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
06/2012
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
01/2006
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
Funding
04/2021
Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider
Frontiers in Neurology
12/2020
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
03/2017
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)
Penelope Hogarth, Manju A. Kurian, Allison Gregory et al.
Molecular Genetics and Metabolism-Elsevier
08/2014
Defective pantothenate metabolism and neurodegeneration
Susan J. Hayflick
Biochemical Society Transactions
04/2013
Early application of deep brain stimulation: clinical and ethical aspects
C. Woopen, KA Pauls, A. Koy, E. Moro, L. Timmermann
Elsevier
03/2010
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
