Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Manju A. Kurian"'
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/be41af8128154b17bae7590996d85f93
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Publikováno v:
The Lancet Neurology. 20:956-968
Manganese is an essential trace metal. The dysregulation of manganese seen in a broad spectrum of neurological disorders reflects its importance in brain development and key neurophysiological processes. Historically, the observation of acquired mang
Autor:
Sandhya Kortagere, Maarten E. A. Reith, Zhicheng Lin, Hui Sun, Aurelio Galli, Corinde E. Wiers, Nora D. Volkow, Manju A. Kurian
Publikováno v:
Molecular Psychiatry. 27:1031-1046
The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis, we have concluded that SLC6A3 represents an increasingly recognized ri
Autor:
David A. Koolen, Yue Si, Benjamin Cogné, Pamela Trapane, Eric W. Klee, Manju A. Kurian, Miel Theunis, Eva Morava, Shekeeb S. Mohammad, Oguz Kanca, Matthew J. Moulton, Paulien A Terhal, Peggy Kulch, Queenie K.-G. Tan, An-Chi Tien, Shenzhao Lu, Erica L. Macke, Hugo J. Bellen, Katy Barwick, Bryan E. Hainline, Russell C. Dale, Lindsey D. Goodman, Katherine Sapp, Hermine E. Veenstra-Knol, Eric Legius, Amber Begtrup, Dora Steel, D. Dutta, Victoria H. Klee, Christopher J. Spencer, Bethany Robinette, Ellen van Binsbergen, Michael F. Wangler, Laurence E. Walsh, Shinya Yamamoto, Thomas A. Ravenscroft, Brian Kirmse, Bertrand Isidor, Marijke R. Wevers, Zelha Nil, Heidi Cope, Theresa A. Grebe, Melissa Jones, Wu Lin Charng, Rolph Pfundt, Jolien S. Klein Wassink-Ruiter, Charlotte A. Haaxma
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691
Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented wit
Publikováno v:
Movement Disorders. 36:1104-1114
Adenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much remains to be understood about the underlying pathogenic mechanisms of the disease. ADCY5-related disease comprises a spectrum of hyperkinetic disorders i
Publikováno v:
Developmental Medicine & Child Neurology. 63:925-933
Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing of existing treatments for specifi
Autor:
Giada Rossignoli, Simon Pope, Eleonora Lugarà, Joanne Ng, Mariarita Bertoldi, Simon Heales, John R. Counsell, Haya Alrashidi, Serena Barral, Carmen De La Fuente Barrigon, Giovanni Bisello, Manju A Kurian, Gabriele Lignani, Katy Barwick, Karolin Krämer
Publikováno v:
Brain
Aromatic l-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often severe cogn
Autor:
Manju A. Kurian, Joanna M. Flowers, Kishore R. Kumar, Glenn Anderson, Sniya Sudhakar, Matej Skorvanek, Bernhard Haslinger, Kshitij Mankad, Martje E. van Egmond, Corien Verschuuren, Rauan Kaiyrzhanov, Nicholas W. Wood, Arianna Ferrini, Nardo Nardocci, Riccardo Berutti, Arcangela Iuso, Barbara Plecko, Juliane Winkelmann, Matias Wagner, P. Darveniza, Philippe Coubes, Arianna Tucci, Paulina Gonzalez-Latapi, Ryan L. Davis, Diane Demailly, Katy Barwick, Erik-Jan Kamsteeg, Kai Bötzel, Tomasz Kmieć, Ján Necpál, Giovanna Zorzi, Derek Burke, Sylvia Boesch, Dora Steel, Barbara Garavaglia, Steven J. Lubbe, Bernabé I. Bustos, Carolyn M. Sue, Chen Zhao, Meriel McEntagart, Stephen Tisch, Henry Houlden, Jan C. Koch, Robert Jech, Sarah Wiethoff, Michael Zech, Laura Cif, Niccolo E. Mencacci, Marina A. J. Tijssen, Suvasini Sharma, Kathryn J. Peall, Paul Gissen, Kathleen M. Gorman
Publikováno v:
Annals of Neurology. 88:867-877
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses. Methods We un
Autor:
Manju A. Kurian, Dora Steel
Publikováno v:
Current Opinion in Neurology. 33:500-507
Purpose of review The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering arra