Results 191 to 200 of about 3,821,420 (285)
A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici +95 morewiley +1 more sourcePlasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.Manyue Hu, Oliver Robinson, Christina M. Lill, Anna Matton, Raquel Puerta, Pilar Sanz, Merce Boada, Agustín Ruiz, Lefkos Middleton, for the Alzheimer's Disease Neuroimaging Initiative +9 morewiley +1 more sourceLessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction
Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...Hadi Salih, Sara Samadzadeh, Charlotte Bereuter, Seyedamirhosein Motamedi, Claudia Chien, Pablo Villoslada, Hadas Stiebel‐Kalish, Nasrin Asgari, Yang Mao‐Draayer, Marius Ringelstein, Joachim Havla, Marco Aurélio Lana Peixoto, Ho Jin Kim, Jacqueline Palace, Maria Isabel Leite, Srilakshmi M. Sharma, Fereshteh Ashtari, Rahele Kafieh, Lekha Pandit, Orhan Aktas, Philipp Albrecht, Letizia Leocani, Itay Lotan, Sasitorn Siritho, Jérôme de Seze, Romain Marignier, Caroline Froment Tilikete, Denis Bernardi Bichuetti, Ivan Maynart Tavares, Ayse Altintas, Anu Jacob, Saif Huda, Ibis Soto de Castillo, Lawrence J. Cook, Michael R. Yeaman, Axel Petzold, Alexander U. Brandt, Friedemann Paul, Frederike C. Oertel, Hanna G. Zimmermann, with the Guthy Jackson Charitable Foundation—International Clinical Consortium and CROCTINO Collaborators +40 morewiley +1 more sourceDorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda +12 morewiley +1 more sourceExploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann +13 morewiley +1 more source
