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

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

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

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

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

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