Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Manju A. Kurian"'
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:
Manju A. Kurian, Simon Pope, Francesco Porta, Oya Kuseyri Hübschmann, Roser Pons, Jennifer Friedman, Birgit Assmann, Yilmaz Yildiz, Alberto Burlina, Kathrin Jeltsch, Toni S. Pearson, Helly Goez, Angeles Garcia-Cazorla, Rafael Artuch, Vincenzo Leuzzi, Simon Heales, Sabine Scholl-Bürgi, H. Serap Sivri, Thomas Opladen, Georg F. Hoffmann, Tessa Wassenberg, Marcel M. Verbeek, Eduardo López-Laso, Mario Mastrangelo, Tomas Honzik, Jan Kulhánek, Gabriella Horvath, Luc Régal, Elisenda Cortès-Saladelafont, Beat Thöny
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Tetrahydrobiopterin (BHAlthough the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH
Autor:
Simon Heales, Rafael Artuch, Cristina Sierra, Marta Batllori, Manju A. Kurian, Marta Molero-Luis, Aida Ormazabal, Mercedes Casado, Simon Pope, Angels García-Cazorla
Publikováno v:
Nature Protocols. 12:2359-2366
The presence of monoamines and their cofactors (the pterins and vitamin B6 (pyridoxal phosphate (PLP))) in human cerebrospinal fluid (CSF) can be used as indicators of the biosynthesis and turnover of dopamine and serotonin in the brain. In addition,
Autor:
Esther Meyer, Manju A. Kurian, Sanjay Bhate, Jean-Pierre Lin, Agnel Praveen Joseph, Angela Barnicoat, F. Lucy Raymond, Jonathan R. Chubb, Niklas Darin, Shibalik Misra, Lucinda Carr, Joanne Ng, Deborah Morrogh, Julia Rankin, Henry Houlden, Erik-Jan Kamsteeg, Martin Smith, Patricia Limousin, Shane McKee, David Arkadir, Sarah Wiethoff, Hilla Ben-Pazi, Patrick Rump, Wui K. Chong, John M.E. Nichols, Michèl A.A.P. Willemsen, William A. Gahl, Gregory Peters, Detelina Grozeva, S Heales, Camilo Toro, André Reis, Shekeeb S Mohammed, Simon Pope, Deciphering Developmental Disorders Study, Adeline Ngoh, Joost Nicolai, Zvi Israel, Russell C. Dale, Nicholas W. Wood, Serena Barral, Niccolo E. Mencacci, Dagmar Wieczorek, Hardev Pall, Gidon Winter, Vasiliki Nakou, Peter D. Turnpenny, Prab Prabhakar, Kailash P. Bhatia, Alan Pittman, Margje Sinnema, Christopher Wragg, Keren J. Carss, Maya Topf, Amber Boys, Apostolos Papandreou, Hagai Bergman, Reeval Segel, Jane A. Hurst, Susan M. White, Nicholas Gutowski, A. Hills, Margaret Kaminska, Daniel E. Lumsden, Belén Pérez-Dueñas, Nicola Foulds, Kathryn J. Peall, Paul Gissen, Miriam S. Reuter, Magnus Nilsson, Brian T. Wilson
Publikováno v:
Nature Genetics. 49:969-969
Nat. Genet. 49, 223–237 (2017); published online 19 December 2016; corrected after print 20 April 2017 Following publication of this article, the authors were asked to remove a clinical image and some video footage of one of the affected individual