Results 61 to 70 of about 682,074 (360)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Women – Trade – Cultural Interactions in the Late Iron Age [PDF]

, 2023
Milena Teska, Martin Kuča, Jan Jílek
openalex   +1 more source

Missing Lactase Persistence in Late Iron Age Central Europe

, 2022
Pas de persistance de la lactase en Europe centrale au second Âge du Fer La capacité de digérer le lactose, même après la période d’allaitement, est une propriété relativement récente chez les humains. L’âge calculé pour la mutation déterminante correspond en grande partie à l’introduction de l’économie laitière.
Warnberg, O., Knipper, C., Röder, B., Lassau, G., Spichtig, N., Ramsl, P., Novotny, F., Teschler-Nicola, M., Marion, S., Schönfelder, M., Pare, C., Szécsényi-Nagy, A., Schibler, J., Schiffels, S. ; https://orcid.org/0000-0002-1017-9150, Alt, K., Pichler, S.   +15 more
openaire   +3 more sources

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 more
wiley   +1 more source

BALEY: New Discoveries

Българско е-Списание за Археология, 2011
The village of Baley, NW Bulgaria, is located on the Timok river, 3 km away from the Danube river. Rumen Katincharov (NAIM-BAS) and Anna Iotsova (RIM-Vidin) excavated a prehistoric settlement with remnants of the Late Bronze and Early Iron Age between ...
Stefan Alexandrov, Georgi Ivanov, Tania Hristova   +2 more
doaj  

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source

Обекти и находки от ранната и късната желязна епоха в района на гр. Козлодуй

Българско е-Списание за Археология, 2018
This article presents pottery from the Еarly and Late Iron Age discovered some time ago in the region of Kozloduy. The Еarly Iron Age is better represented with materials from five sites. The Late Iron Age was registered at two sites.
Ventzislav Dintchev
doaj  

Invitation systems and identification in Late Iron Age southern Scandinavia?

Danish Journal of Archaeology, 2015
The ability to identify oneself has always been important, because people in all periods entered into relationships in which their role depended upon their identity.
Maria Panum Baastrup
doaj   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

To fish or not to fish? Evidence for the possible avoidance of fish consumption during the Iron Age around the North Sea [PDF]

, 2007
Accounts of the Late Iron Age economy of the areas around the southern part of the North Sea typically do not refer to fishing as an important contribution to subsistence (e.g.
Dobney, K., Ervynck, A.
core