Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Raluca Ioana TELEANU"'
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Elena Catalina Petrov, Diana Anamaria Epure, Oana Aurelia Vladacenco, Daniela Dorina Vasile, Maria Lupu, Eugenia Roza, Raluca Ioana Teleanu
Publikováno v:
Romanian Journal of Pediatrics, Vol 72, Iss 2, Pp 91-94 (2023)
Morvan syndrome is a rare immune-mediated pathology involving the central, peripheral and autonomic nervous systems. Although it was described in adults, mostly as a paraneoplastic syndrome, it is rarely seen in pediatric patients. In this report, we
Externí odkaz:
https://doaj.org/article/b42db871f74243d49104f834821fa038
Autor:
Marta Maria-Monica, Dan Nitoi, Raluca Ioana Teleanu, Daniel Mihai Teleanu, Oana Roxana Chivu, Stefan Milicescu
Publikováno v:
Journal of Research and Innovation for Sustainable Society, Vol 5, Iss 1, Pp 51-57 (2023)
The problem of mineralization of bone structures has been a subject of research and discussion for a long time due to the influence it has on the functioning of the entire human system. In practice, to improve the concentration of minerals in the b
Externí odkaz:
https://doaj.org/article/bbf8ec4047624dee8581b1ca2847c7aa
Autor:
Ioana Roșca, Andrei Gheorghe Preda, Andreea Teodora Constantin, Ciprian Coroleucă, Emilia Severin, Raluca Ioana Teleanu, Alina Turenschi
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Background and objectivesThe premature birth of a newborn can present a complex challenge for healthcare providers, particularly in cases of extreme prematurity combined with intrauterine growth restriction and multiple metabolic deficiencies. In thi
Externí odkaz:
https://doaj.org/article/3f140c94d6404e059a583777c5a7b30a
Publikováno v:
Modern Medicine, Vol 29, Iss 2, Pp 149-153 (2022)
Objectives: Electrical status epilepticus during sleep (ESES) is a type of EEG pattern seen in children with childhood-onset epileptic seizures and cognitive, language and motor regression. ESES has been associated with different etiologies, with or
Externí odkaz:
https://doaj.org/article/c06b0776a6b04f6b93eb820afec37867
Autor:
Raluca Ioana Teleanu, Marlene Alexandra Sarman, Diana Anamaria Epure, Margarita Matei, Ioana Roşca, Eugenia Roza
Publikováno v:
Children, Vol 10, Iss 6, p 1011 (2023)
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hyp
Externí odkaz:
https://doaj.org/article/5d94eae5784945d3ab3dc1cce2734248
Autor:
Ioana Gheța, Raluca Ioana Teleanu, Eugenia Roza, Evelina Carapancea, Oana Vladacenco, Daniel Mihai Teleanu
Publikováno v:
Neurology International, Vol 13, Iss 2, Pp 184-189 (2021)
Glutamate, the major excitatory neurotransmitter, plays a ubiquitous role in most aspects of normal brain functioning. Its indispensable position is paradoxically doubled by a high excitotoxic potential following disruption of its dynamic equilibrium
Externí odkaz:
https://doaj.org/article/a9775993e0f946298d5286b78b5de2d9
Publikováno v:
Romanian Journal of Neurology, Vol 20, Iss 1, Pp 21-27 (2021)
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a sm
Externí odkaz:
https://doaj.org/article/b8b4c4c170a84d759f13c0068211a9d3
Autor:
Maria Lupu, Mihaela Ioghen, Radu-Ștefan Perjoc, Andra-Maria Scarlat, Oana Aurelia Vladâcenco, Eugenia Roza, Diana Ana-Maria Epure, Raluca Ioana Teleanu, Emilia Maria Severin
Publikováno v:
Children, Vol 10, Iss 6, p 959 (2023)
Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase in the life expectancy of patients. The challenge of transitioning from pediatric to adult
Externí odkaz:
https://doaj.org/article/15a40ba5b81546159c18e8243b9ee39b
Autor:
Raluca Ioana Teleanu, Adelina-Gabriela Niculescu, Oana Aurelia Vladacenco, Eugenia Roza, Radu-Stefan Perjoc, Daniel Mihai Teleanu
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8251 (2023)
Multiple sclerosis (MS) represents a chronic immune-mediated neurodegenerative disease of the central nervous system that generally debuts around the age of 20–30 years. Still, in recent years, MS has been increasingly recognized among the pediatri
Externí odkaz:
https://doaj.org/article/6bbcceea51d04d8e929bc72ced27da4e