Results 151 to 160 of about 754 (163)

P149 – 2652: Neuroimaging findings in two common NBIA subtypes, PKAN and MPAN

European Journal of Paediatric Neurology, 2015
Objective The two most common subtypes of NBIA (neurodegeneration with brain iron accumulation; formerly called as Hallervorden-Spatz syndrome) in Poland are PKAN and MPAN, caused by mutations in PANK2 and C19orf12, respectively. Characteristic findings in brain MRI are valuable to distinguish between different forms of NBIA and perform efficient ...
T. Kmiec, E. Jurkiewicz, K. Nowak, K. Malczyk, S. Chełstowska, M. Bilska, S. Jóźwiak, A. Turska-Kmieć, M. Hartig, A. Iuso, T.B. Haack, H. Prokisch, T. Meitinger, M. Sobstyl, T. Mandat   +14 more
openaire   +1 more source

A decision tree that can address connectivity in the design of Marine Protected Area Networks (MPAn)

Marine Policy, 2018
Abstract A marine protected area (MPA) is an area of the ocean designated for the conservation and protection of natural or cultural resources. MPAs are spatial tools used to preserve the ecological integrity and biodiversity of an area, protecting ecosystem functions, species and habitats for future generations.
Jenny Smith, Anna Metaxas
openaire   +1 more source

“Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN)

Brain and Development, 2016
Neurodegeneration with brain iron accumulation (NBIA) refers to an inherited heterogeneous group of disorders pathologically characterized by focal brain iron deposition. Clinical phenotype, imaging findings and genotype are variable among the different types of this disorder.
Sangeetha, Yoganathan, Sniya Valsa, Sudhakar, Maya, Thomas, Atanu Kumar, Dutta, Sumita, Danda   +4 more
openaire   +2 more sources

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA)

Biochimica Et Biophysica Acta - Molecular Basis of Disease
Mutations in the following genes: PANK2, PLA2G6, C19orf12, WDR45, CP, FA2H, ATP13A2, FTL, DCAF17, and CoASY are associated with the development of different subtypes of inherited rare disease Neurodegeneration with Brain Iron Accumulation (NBIA). Additionally, recently described mutations in FTH1, AP4M1, REPS1, SCP2, CRAT and GTPBP2 affecting iron and ...
Agata, Wydrych, Barbara, Pakuła, Patrycja, Jakubek-Olszewska, Justyna, Janikiewicz, Aneta M, Dobosz, Agnieszka, Cudna, Marcel, Rydzewski, Karolina, Pierzynowska, Lidia, Gaffke, Zuzanna, Cyske, Estera, Rintz, Iwona, Kurkowska-Jastrzębska, Maciej, Cwyl, Paolo, Pinton, Grzegorz, Węgrzyn, Werner J H, Koopman, Agnieszka, Dobrzyń, Marta, Skowrońska, Magdalena, Lebiedzińska-Arciszewska, Mariusz R, Wieckowski   +19 more
exaly   +5 more sources

A novel C19ORF12 mutation in a MPAN family with the treatment of deferiprone

Parkinsonism & Related Disorders, 2023
openaire   +1 more source

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

Movement Disorders, 2023
Anne Vital, Patrice Menegon, Victoria Gonzalez   +2 more
exaly  

A late-onset mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) case with Parkinsonism

Parkinsonism & Related Disorders, 2023
T. Saltoğlu, F. Erdoğan Küçükdağli, Y. Sücüllü Karadağ   +2 more
openaire   +1 more source

Very late-onset MPAN presenting with rapid cognitive deterioration

Neurological Sciences
Hatice Yuksel, Cansu Kostakoglu Duman, Ibrahim Kamaci, Zuhal Yapici   +3 more
openaire   +2 more sources

Rate coefficient for the reaction of OH with CH2C(CH3)C(O)OONO2 (MPAN)

Atmospheric Environment, 2002
John J Orlando, Geoffrey S Tyndall, James B Burkholder   +2 more
exaly  

Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease

Neuropediatrics, 2015
M. Nickel, U. Löbel, R. Grosse, M. Hartig, A. Bley, A. Schulz, A. Kohlschütter   +6 more
openaire   +1 more source