Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Tiiu Tomberg"'
Autor:
Nigul Ilves, Pilvi Ilves, Rael Laugesaar, Julius Juurmaa, Mairi Männamaa, Silva Lõo, Dagmar Loorits, Tiiu Tomberg, Anneli Kolk, Inga Talvik, Tiina Talvik
Publikováno v:
Neural Plasticity, Vol 2016 (2016)
Perinatal stroke is a leading cause of congenital hemiparesis and neurocognitive deficits in children. Dysfunctions in the large-scale resting-state functional networks may underlie cognitive and behavioral disability in these children. We studied re
Externí odkaz:
https://doaj.org/article/05f1af095bff4cadb6bbf464d39b8170
Autor:
Mairi Männamaa, Silva Lõo, Rael Laugesaar, Leena Haataja, Pilvi Ilves, Inga Talvik, Tiiu Tomberg, Tiina Talvik, Anneli Kolk, Dagmar Loorits
Publikováno v:
European Journal of Paediatric Neurology. 22:1006-1015
Background: Long-term follow-up data after different vascular types of ischemic perinatal stroke is sparse. Our aim was to study neurodevelopmental outcomes following neonatal and presumed perinatal ischemic middle cerebral artery territory stroke (a
Autor:
Audrey Ker Shin Soo, Sanna Puusepp, Niccolo E. Mencacci, Burcu Atasu, Joaquin Campos, Jinye Dai, Nicholas W. Wood, Javier Simón-Sánchez, Alan M. Pittman, Manju A Kurian, Ebba Lohmann, Katrin Õunap, Thomas Gasser, Dimitri Krainc, Liis Kadastik-Eerme, Karit Reinson, Thomas T. Warner, Arianna Tucci, Thomas C. Südhof, Bettina Balint, Christopher Patzke, Michael Schwake, Reet Rein, Apostolos Papandreou, Paulina Gonzalez-Latapi, Sarah Wiethoff, Claudio Acuna, Gemma L. Carvill, Sander Pajusalu, Hasmet Hanagasi, Christian Rosenmund, Tiiu Tomberg, Kailash P. Bhatia, Marisa M Brockmann, Gabriela Pino
Publikováno v:
J Clin Invest
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as
Autor:
Ebba Lohmann, Karit Reinson, Sanna Puusepp, Niccolo E. Mencacci, Michael Schwake, Christian Rosenmund, Marisa M Brockmann, Burcu Atasu, Hasmet Hanagasi, Katrin Õunap, Christopher Patzke, Thomas W Warner, Liis Kadastik-Eerme, Apostolos Papandreou, Alan Pittmann, Sarah Wiethoff, Thomas Gasser, Paulina Gonzalez-Latapi, Kailash P. Bhatia, Bettina Balint, Arianna Tucci, Reet Rein, Gemma L. Carvill, Sander Pajusalu, Nicholas W. Wood, Manju A. Kurian, Gabriela Pino, Audrey Ker Shin Soo, Javier Simón-Sánchez, Thomas C. Südhof, Joaquin Campos, Dimitri Krainc, Jinye Dai, Tiiu Tomberg, Claudio Acuna
Dystonia is a debilitating hyperkinetic movement disorder, frequently transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants inTSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1894dafc0a2d585a79b7dbf3199a239
https://doi.org/10.1101/2020.05.24.086215
https://doi.org/10.1101/2020.05.24.086215
Autor:
Andres Piirsoo, Margus Ennok, Ulvi Vaher, Ülle Murumets, Rita Teek, Anne Õunapuu, Eve Õiglane-Shlik, Sanna Puusepp, Tiiu Tomberg, Inga Talvik, Sander Pajusalu, Katrin Õunap, Tiia Reimand, Karit Reinson
Publikováno v:
American Journal of Medical Genetics Part A. 170:2173-2176
The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosi
Autor:
Toomas Hermlin, Helgi Padari, Maksim Zagura, Heleri Konik, Liis Salumae, Tuuli Metsvaht, Tiiu Tomberg
Publikováno v:
International Journal of Clinical Pediatrics. 4:162-165
Retroperitoneal arteriovenous malformations (AVMs) are rare lesions consisting of dysplastic vessels, which may produce diverse clinical features. We report a case of premature neonate born on the 29th week of gestation, who presented with heart fail
Autor:
Rael Laugesaar, Pilvi Ilves, K. Kepler, Joosep Kepler, Tiiu Tomberg, Mari-Liis Kaldoja, Anneli Kolk
Publikováno v:
Journal of Child Neurology
Plasticity of language function after brain damage can depend on maturation of the brain. Children with left-hemisphere perinatal (n = 7) or childhood stroke (n = 5) and 12 controls were investigated using functional magnetic resonance imaging. The v
Autor:
Mairi Männamaa, Silva Lõo, Anneli Kolk, Tiina Talvik, Dagmar Loorits, Rael Laugesaar, Julius Juurmaa, Pilvi Ilves, Nigul Ilves, Tiiu Tomberg, Inga Talvik
Publikováno v:
Neural Plasticity
Neural Plasticity, Vol 2016 (2016)
Neural Plasticity, Vol 2016 (2016)
Perinatal stroke is a leading cause of congenital hemiparesis and neurocognitive deficits in children. Dysfunctions in the large-scale resting-state functional networks may underlie cognitive and behavioral disability in these children. We studied re
Autor:
Julius, Juurmaa, Ricarda A L, Menke, Pierre, Vila, Andreas, Müürsepp, Tiiu, Tomberg, Pilvi, Ilves, Mait, Nigul, Heidi, Johansen-Berg, Michael, Donaghy, Charlotte J, Stagg, Ainārs, Stepens, Pille, Taba
Publikováno v:
Brain and Behavior
Background A permanent Parkinsonian syndrome occurs in intravenous abusers of the designer psychostimulant methcathinone (ephedrone). It is attributed to deposition of contaminant manganese, as reflected by characteristic globus pallidus hyperintensi
Autor:
Janika Kõrv, Mark Braschinsky, Tiiu Tomberg, U Linnamägi, Kristiina Rannikmäe, Toomas Asser, J Kepler, K. Kepler
Publikováno v:
Spinal Cord. 50:885-890
The study aimed to use functional magnetic resonance imaging to ascertain changes in sensorimotor system function in patients with hereditary spastic paraplegia and to correlate it with severity of spasticity and paresis.Tartu University Hospital, Ta