Electronic Poster Sessions

Electronic posters will be displayed on two separate screens in the poster area according to the ranking order in Groups A and B. The dates and times for the presentations are provided in the table below.

Presenter

Abstract Title

Poster Session I - NBIA General

October 18, 2024 (Friday) 10:00 - 10:30
Group A
EP1 Valeria Gioiosa NBIA Diagnosis: Lessons from Ten Year Experience in A French Reference Lab
EP2 Elahe Amini  Transcranial Sonography in Neurodegeneration with Brain Iron Accumulation Disorders
EP3 Mohammad Rohani Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders
EP4 Magdalena Żabińska Changes in Oxytocin and Oxytocin Receptor Levels in the NBIA Cell Model
EP5 Hasan Baş Evaluation of Carrier Frequency of Neurodegeneration with Brain İron Accumulation (NBIA) Disorders in A Middle Eastern Patient Population Based on Data from 17,868 Exome Sequences
Group B
EP6 Karolina Wiśniewska The Significance of Peroxisomal Dysfunction in the Pathogenesis of NBIA
EP7 Janani Ramamurthy  Survey of NBIA Caregiver Perspectives to Identify Relevant Qol Outcomes for Caregivers/Patients
EP8 Karolina Pierzynowska The Significance of Ferroptosis Dysregulation in The Pathogenesis of NBIA
EP9 Aneta Szulc Initiation and Elongation of the Autophagy Process in Different Types of NBIA
EP10 Özge Uygun Is There Any Correlation Between Amount of Iron Measured by Quantitative Susceptibility Mapping and the Clinical Features in NBIA?

Poster Sessino II - PKAN/CoPAN/NBIA Systemic

October 18, 2024 (Friday) 14:50 - 15:20
Group A
EP11 Jessica Regan   Pank Activators for the Treatment of Pantothenate Kinase-Associated Neurodegeneration. (Withdrawn)
EP12 Shoaib Ur Rehman Genetic Architecture of Neurodegenerative Disorder and Its Association with Consanguinity in Pashtoon Population
EP13 Jouke Jan Wedman The Identification of A 4'-Phosphopantetheine Transporter in S. Cerevisae
EP14 Chiara Cavestro Investigating Copan in Mice: From Patho-mechanisms to Therapeutic Approaches
Group B
EP15 Elahe Amini A Surprising Presentation of Atypical Pantothenate Kinase Associated Neurodegeneration Disorder: Metamorphopsia
EP16 Estera Rintz  The Effect of Genistein on the Autophagy Process in a Cellular Model of Pantothenate Kinase-Associated Neurodegeneration
EP17 Elahe Amini Neurodegeneration with Brain Iron Accumulation Disorders and Retinal Neurovascular Structure
EP18 Elahe Amini Olfactory Status in Neurodegeneration with Brain Iron Accumulation Disorders

Poster Session III - BPAN

October 18, 2024 (Friday) 16:30 - 17:00
Group A
EP19 Gemma Gasparini Investigating Respiratory Chain Complex I Deficiency in IPSCS-Derived Dopaminergic Neurons and Astrocytes from BPAN Individuals
EP20 Eleanor Attridge Characterizing the Molecular Mechanisms of Wipi2 and Wipi4 Mutations in BPAN and Neurodevelopmental Disorders
EP21 Zuzanna Cyske  Genistein as an Autophagy Stimulation in Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
EP22 Celle Marion Establishing of Drosophila Model for BPAN Disease
Group B
EP23 Hetavi Zaveri Autophagy and Neurodegeneration: Discovering Critical Insights and Innovative Therapeutic Strategies Using a Novel Human Neuron Model of BPAN
EP24 Alejandra Darling  Beta-Propeller Protein Associated Neurodegeneration (BPAN): Electroencephalographic Characterization of a Cohort Of 16 Patients
EP25 Alejandra Darling Altered Autophagy Involved in Neurodevelopment and Neurodegeneration: Study of A Cohort of Patients with BPAN (Beta-Propeller Protein-Associated Neurodegeneration), New Insights and Phenotypes

Poster Session IV - MPAN/KRS

October 19, 2024 (Saturday) 10:25 - 10:45
Group A
EP26 Barbara Gnutti  Modeling C19orf12 Deficiency in Zebrafish (Withdrawn)
EP27 Hatice Yuksel Early-Onset Dementia in a Case of Late-Onset MPAN
EP28 Grzegorz Wegrzyn  Autophagy Disturbation in Fibroblasts Derived from Patients Suffering from Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN), A Type of Neurodegeneration with Brain Iron Accumulation (NBIA)
EP29 Irem Aydin,  Mitochondrial Membrane-Protein Associated Neurodegeneration (MPAN) Presenting with Parkinsonism Findings: Case Report
Group B
EP30 Miray Erdem Mitochondrial Membrane Protein-Associated Neurodegeneration Presenting with Parkinsonism: A Case Report
EP31 Ibrahim Kamaci  Clinical Profile of Kufor-Rakeb Syndrome and Evaluation of Quantitative Sensitivity Analysis
EP32 Malika Egemberdiyeva  A Case of NBIA with Iron Accumulation Not Detected by Conventional Genetic Testing
EP33 Lidia Gaffke  First Close Look at Proteasome in Neurodegeneration with Brain Iron Accumulation Patients