Results 11 to 20 of about 754 (163)

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center [PDF]

Annals of Clinical and Translational Neurology
Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia.
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
doaj   +3 more sources

Mitochondrial membrane protein-associated neurodegeneration (MPAN): Two phenotypes—dystonia and spastic paraparesis [PDF]

Annals of Indian Academy of Neurology, 2022
Sruthi Kola, Sai S L. Meka, Syed T Fathima, Abdul Wahed, Rukmini M Kandadai, Rupam Borgohain   +5 more
doaj   +4 more sources

Eddy covariance fluxes of acyl peroxy nitrates (PAN, PPN and MPAN) above a Ponderosa pine forest [PDF]

Atmospheric Chemistry and Physics, 2009
During the Biosphere Effects on AeRosols and Photochemistry EXperiment 2007 (BEARPEX-2007), we observed eddy covariance (EC) fluxes of speciated acyl peroxy nitrates (APNs), including peroxyacetyl nitrate (PAN), peroxypropionyl nitrate (PPN) and ...
G. M. Wolfe, J. A. Thornton, R. L. N. Yatavelli, M. McKay, A. H. Goldstein, B. LaFranchi, K.-E. Min, R. C. Cohen   +7 more
doaj   +6 more sources

Novel Variant in C19orf12 Gene Causing Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) – Case Report and a Brief Review of Indian Literature on MPAN [PDF]

Annals of Indian Academy of Neurology
Jayaram Saibaba, Sandeep Sibi, Deepak Amalnath, Dharanipragada Krishna Suri Subrahmanyam   +3 more
doaj   +4 more sources

A Case of MPAN with “Eye of the Tiger Sign,” Mimicking PKAN [PDF]

Movement Disorders Clinical Practice, 2022
Masoumeh Dehghan Manshadi, Ali Rezaei, Omid Aryani   +2 more
exaly   +4 more sources

A 30-year history of MPAN case from Russia [PDF]

Clinical Neurology and Neurosurgery, 2017
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders ...
Selikhova, M, Fedotova, E, Wiethoff, S, Schottlaender, LV, Klyushnikov, S, Illarioshkin, SN, Houlden, H   +6 more
openaire   +5 more sources

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12

Stem Cell Research, 2023
Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN) is a lethal neurodegenerative disorder caused by mutations in the human gene C19orf12.
Enrica Zanuttigh, Ejona Rusha, Camille Peron, Dario Brunetti, Giovanna Zorzi, Anna Pertek, Polyxeni Nteli, Juliane Winkelmann, Valeria Tiranti, Arcangela Iuso   +9 more
doaj   +2 more sources

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

Neurologia i Neurochirurgia Polska, 2019
Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia.
Akcakaya, Nihan Hande, Haryanyan, Garen, Mercan, Sevcan, Sozer, Nejla, Ali, Asuman, Tombul, Temel, Ozbek, Ugur, Iseri, Sibel Aylin Ugur, Yapici, Zuhal   +8 more
core   +7 more sources

Importance of biogenic volatile organic compounds to acyl peroxy nitrates (APN) production in the southeastern US during SOAS 2013 [PDF]

Atmospheric Chemistry and Physics, 2019
Gas-phase atmospheric concentrations of peroxyacetyl nitrate (PAN), peroxypropionyl nitrate (PPN), and peroxymethacryloyl nitrate (MPAN) were measured on the ground using a gas chromatograph electron capture detector (GC-ECD) during the Southern Oxidants
S. Toma, S. Bertman, C. Groff, F. Xiong, P. B. Shepson, P. B. Shepson, P. Romer, K. Duffey, P. Wooldridge, R. Cohen, K. Baumann, E. Edgerton, A. R. Koss, A. R. Koss, A. R. Koss, J. de Gouw, A. Goldstein, W. Hu, W. Hu, J. L. Jimenez, J. L. Jimenez   +20 more
doaj   +4 more sources

Striking a balance between ecological, economic, governance, and social dimensions in marine protected area network evaluations

Conservation Science and Practice, 2023
Marine protected area networks (MPANs) are promised as tools for protecting biodiversity and contributing to sustainable development. The variety of expected social‐ecological outcomes associated with MPANs underscores a need to consider ecological ...
Mairi C. Meehan, Gerald G. Singh, Natalie C. Ban, Rodolphe Devillers, Joachim Claudet   +4 more
doaj   +2 more sources