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| 37867374 | Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management. | | 2024 |
| 37096298 | A Brief History of NBIA Gene Discovery. | | 2023 |
| 36270151 | Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder. | Pediatric Neurology | 2023 |
| 37745522 | Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency. | | 2023 |
| 37565733 | A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN? | | 2023 |
| 35662397 | Coenzyme A precursors flow from mother to zygote and from microbiome to host. | Molecular Cell | 2022 |
| 36240582 | PKAN pathogenesis and treatment. | Molecular Genetics and Metabolism | 2022 |
| 36351433 | EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. | Am J Hum Genet | 2022 |
| 35504872 | Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism. | Nature Communications | 2022 |
| 35379322 | Clinical implementation of RNA sequencing for Mendelian disease diagnostics. | Genome Med | 2022 |
| 34909266 | Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation. | | 2021 |
| 34347296 | Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. | Developmental Medicine and Child Neurology | 2021 |
| 33013674 | Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation. | Frontiers in Neurology | 2020 |
| 31823681 | Cannabis Use in Children With Pantothenate Kinase-Associated Neurodegeneration. | Journal of Child Neurology | 2020 |
| 33150406 | KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Brain | 2020 |
| 31202468 | Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. | Lancet Neurol | 2019 |
| 31660701 | 4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN. | EMBO Molecular Medicine | 2019 |
| 31701655 | CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases. | EMBO Molecular Medicine | 2019 |
| 30298423 | A new NBIA patient from Turkey with homozygous C19ORF12 mutation. | Acta Neurologica Belgica | 2019 |
| 31087512 | Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). | Molecular genetics & genomic medicine | 2019 |
| 29685658 | Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. | Mol Genet Metab | 2018 |
| 29556724 | De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. | Hum Genet | 2018 |
| 29371252 | Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration. | | 2018 |
| 29325618 | Neurodegeneration with brain iron accumulation. | Handbook of Clinical Neurology | 2018 |
| 28034613 | Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). | Molecular Genetics and Metabolism | 2017 |
| 28456385 | Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN. | Molecular Genetics and Metabolism | 2017 |
| 28900161 | Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency. | Scientific Reports | 2017 |
| 27817865 | MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. | Am J Hum Genet | 2016 |
| 27231142 | Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. | Nat Commun | 2016 |
| 27545679 | Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. | Am J Hum Genet | 2016 |
| 26322826 | Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis. | Nature Chemical Biology | 2015 |
| 30713886 | Mutation in Atypical Rett Syndrome with Brain Iron Accumulation. | Movement Disorders Clinical Practice | 2015 |
| 25973518 | Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. | Annual Review of Genomics and Human Genetics | 2015 |
| 26547561 | Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. | Molecular Genetics and Metabolism | 2015 |
| 26240209 | Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay. | Pediatrics | 2015 |
| 25110003 | Defective pantothenate metabolism and neurodegeneration. | Biochemical Society Transactions | 2014 |
| 25434005 | Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. | American Journal of Human Genetics | 2014 |
| 24360804 | Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. | Am J Hum Genet | 2014 |
| 24636010 | Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. | European Journal of Paediatric Neurology | 2014 |
| 24745848 | PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. | Molecular Genetics and Metabolism | 2014 |
| 23494994 | Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. | Movement Disorders | 2013 |
| 24209435 | BPAN: the only X-linked dominant NBIA disorder. | | 2013 |
| 24209433 | Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. | | 2013 |
| 24036495 | Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. | Circulation Research | 2013 |
| 23891537 | Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration. | Molecular Genetics and Metabolism | 2013 |
| 24098554 | Alterations of red cell membrane properties in neuroacanthocytosis. | PLoS ONE | 2013 |
| 23687123 | β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. | Brain | 2013 |
| 23644319 | Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration? | Neurology India | 2013 |
| 23269600 | New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. | Neurology | 2013 |
| 23096700 | Copy number variation analysis in 98 individuals with PHACE syndrome. | J Invest Dermatol | 2013 |