Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Daniela T. Pilz"'
Autor:
Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson
Publikováno v:
Cell Reports, Vol 25, Iss 10, Pp 2729-2741.e6 (2018)
Summary: The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric condi
Externí odkaz:
https://doaj.org/article/d95a7e66dd6f4400b94ec2e97ad2e7b3
Autor:
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants.
Externí odkaz:
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec
Autor:
Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry
Publikováno v:
Brain Sciences, Vol 8, Iss 8, p 145 (2018)
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functi
Externí odkaz:
https://doaj.org/article/9b32537b1afc4d558b6ef3e1937522ca
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
Autor:
Julian C. Knight, Elma Stephen, Houman Ashrafian, Andreas Brunklaus, Ioana Cutcutache, Shelagh Joss, Alice Jollands, Liam Dorris, Martin Armstrong, Elizabeth Pilley, Jay Shetty, Joseph D. Symonds, Katherine S. Elliott, Kirsty Stewart, Daniela T. Pilz, Mary O'Regan, Sarah L. Gardiner, Martin Kirkpatrick, Sameer M. Zuberi, Matthew Page, S. MacLeod, Louise A Diver, Ailsa McLellan
Publikováno v:
Symonds, J D, Elliott, K S, Shetty, J, Armstrong, M, Brunklaus, A, Cutcutache, I, Diver, L A, Dorris, L, Gardiner, S, Jollands, A, Joss, S, Kirkpatrick, M, McLellan, A, MacLeod, S, O'Regan, M, Page, M, Pilley, E, Pilz, D T, Stephen, E, Stewart, K, Ashrafian, H, Knight, J C & Zuberi, S M 2021, ' Early childhood epilepsies : Epidemiology, classification, aetiology, and socio-economic determinants ', Brain, vol. 144, no. 9, pp. 2879-2891 . https://doi.org/10.1093/brain/awab162
Brain
Brain
Epilepsies of early childhood are frequently resistant to therapy and often associated with cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene-based therapies, may prevent seizures and comorbidities. Epidemiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf64056f1798d4da80c199c7cbb189b
https://eprints.gla.ac.uk/243667/2/243667.pdf
https://eprints.gla.ac.uk/243667/2/243667.pdf
Autor:
Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska
Publikováno v:
Ann Neurol
Objective\ud \ud Pathogenic variants in SCN3A , encoding the voltage‐gated sodium channel subunit Nav1.3, cause severe childhood‐onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdf
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdf
Autor:
Daniela T. Pilz, Katrien Stouffs, Orly Reiner, Anna Jansen, Eleonora Aronica, Edith Said, Renske Oegema, WB Dobyns, Richard J. Leventer, David Gomez Andres, Nadia Bahi-Buisson, Martina Wilke, Ivana Pogledic, Dina Amrom, Ute Hehr, Ghayda Mirzaa, Elena Parrini, Luis M Valor, Renzo Guerrini, Valerio Conti, Andrew E. Fry, Doriette Soler, Tahsin Stefan Barakat, Grazia M.S. Mancini, Nataliya Di Donato, Maha S. Zaki, T. Geis
Publikováno v:
Nature reviews. Neurology
Nature Reviews Neurology, 16(11), 618-635. Nature Publishing Group
Nature Reviews. Neurology
Nature reviews. Neurology, 16(11), 618-635. Nature Publishing Group
Nature Reviews Neurology, 16(11), 618-635. Nature Publishing Group
Nature Reviews. Neurology
Nature reviews. Neurology, 16(11), 618-635. Nature Publishing Group
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391fb74cf7cabbac024a26d2073c5fb8
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/313050
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/313050
Autor:
Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod
Publikováno v:
American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet
Am J Hum Genet
The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation and dendritic and axonal growth. The relevance of endoplasmic reticulum (ER)-associated oxidoreductases in these processes is largely unexplo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977
https://urn.nsk.hr/urn:nbn:hr:105:093095
https://urn.nsk.hr/urn:nbn:hr:105:093095
Autor:
Sonal Mahida, Elliott H. Sherr, Elodie Lacaze, William B. Dobyns, Kosuke Izumi, Hilde Peeters, Marielle Alders, Catherine Nowak, Dawn L. Earl, Richard M. Gronostajski, Ryan J. Dean, Megan T. Cho, Anouck Schneider, Siren Berland, Patricia Blanchet, Laurence Faivre, Martin Zenker, Ina Schanze, Caitlin J. Bridges, Daniela T. Pilz, Sangamitra Boppudi, Ilse Wieland, Jens Bunt, Avni Santani, Jessica Douglas, Elaine H. Zackai, Muriel Holder-Espinasse, Linda J. Richards, Jean Baptiste Rivière, Tania Attié-Bitach, Timothy J. Edwards, Vincent Gatinois, Jacques Puechberty, Jonathan W. C. Lim, Ghayda Mirzaa, Sian Morgan, Phillis Lakeman, Steven Boogert, Samuel Huth, Marion Gérard, Denny Schanze, Florence Petit, Xiaonan Zhao, Eyal Reinstein, David Geneviève, Bronwyn Kerr, Dian Donnai, Constance Smith-Hicks, Brieana Fregeau
Publikováno v:
American journal of human genetics, 103(5), 752-768. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American journal of human genetics, vol 103, iss 5
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American journal of human genetics, vol 103, iss 5
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX,
Autor:
Alan Fryer, Rolph Pfundt, Lori A. Carpenter, Susan M. White, Kirsten P. Forbes, Daniela T. Pilz, Nava Shaul-Lotan, Andrew E. Fry, Anthonie J. van Essen, Amy E. Roberts, A. Micheil Innes, Katherine A. Fawcett, Beatriz Paumard-Hernández, Michael Wright, Peter D. Turnpenny, Blanca Gener, Richard Caswell, Lindsay B. Henderson, Romana Gjergja-Juraski, Melissa Sloman, Wendy K. Chung, Karen E. Heath, G. Bradley Schaefer, Heather M. McLaughlin, Erica H. Gerkes
Publikováno v:
American Journal of Human Genetics, 103(5), 786-793. CELL PRESS
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103, 786-793
American Journal of Human Genetics, 103, 5, pp. 786-793
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103, 786-793
American Journal of Human Genetics, 103, 5, pp. 786-793
PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive complex 1 (PRC1), a multiprotein complex which con
Autor:
Daniela T. Pilz, Anna De Burca, David R. FitzPatrick, Ddd Study, Pedro Louro, Jill Clayton Smith, Mira Kharbanda, Victoria McKay, Susan Tomkins, Kate Chandler, Usha Kini, Anand Saggar, John Burn, Esther Kinning, Alan Fryer
Publikováno v:
Kharbanda, M, Pilz, D T, Tomkins, S, Chandler, K, Saggar, A, Fryer, A, McKay, V, Louro, P, Smith, J C, Burn, J, Kini, U, De Burca, A & FitzPatrick, D R & Kinning, E 2017, ' Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals ', European journal of medical genetics, vol. 60, no. 2, pp. 130-135 . https://doi.org/10.1016/j.ejmg.2016.11.008
Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsu