Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Maria Gabriela Otero"'
Publikováno v:
AIMS Cell and Tissue Engineering. 3:1-25
Intensive research has been performed to identify the pathological mechanisms of many pediatric neurogenetic disorders and to identify potential therapeutic targets. Although research into many pediatric neurological disorders has provided tremendous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0f007971f27c614f1732016a3462110
https://doi.org/10.3934/celltissue.2019.1.1
https://doi.org/10.3934/celltissue.2019.1.1
Autor:
Jenny Carmichael, Federico Zara, Konstantinos Ampatzis, Somayeh Bakhtiari, Sherifa A. Hamed, Roman Chrast, Rolf Stucka, Juliane Müller, Gudrun Nürnberg, Nihal Olgaç Dündar, Erik-Jan Kamsteeg, Shoji Tsuji, Maja Di Rocco, Shazia Maqbool, Francisca Millan, Jonathan Baets, Tine Deconinck, Hanan E. Shamseldin, Tim M. Strom, Marcello Scala, Elham Alehabib, Cara M. Skraban, Isabella Ceccherini, Vincenzo Salpietro, Mohammed Anter Abdelhameed, Filippo M. Santorelli, Michele Iacomino, Peter De Jonghe, Yasuhiro Suzuki, Rossella Pasquariello, Anna Uhrova Meszarosova, James T Peterson, Ahmed Alfares, Yoshihisa Takiyama, Rebecca Schüle, Hossein Darvish, Yinghong Wang, Marta Rusmini, Selina Deschner, Adriana P. Rebelo, Fatima Rahman, Tobias B. Haack, Manuela Wiessner, Changlian Zhu, Matthis Synofzik, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Frederic Tran Mau-Them, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Richard A. Lewis, Jin Yun Helen Chen, Meng-Yuan Ni, Michaela Auer-Grumbach, Andrea Català-Bordes, Ivana Ricca, Sheng Chih Jin, Dieter Gläser, Rita Horvath, Maryam Najafi, Jamileh Rezazadeh Varaghchi, Henry Houlden, Bart P.C. van de Warrenburg, Katheryn Grand, Gökhan Uyanik, Jan Senderek, Jean-Jacques Médard, Özgür Duman, Andrea Pedroni, Willem De Ridder, Reza Maroofian, Saghar Ghasemi Firouzabadi, Michael C. Kruer, H. Küpper, Emmanuelle Schmitt, Alistair T. Pagnamenta, Mary J H Willis, Kaya Bilguvar, Majid Alfadhel, Jonathan De Winter, Stephan Züchner, Saeed Al Tala, Hwei-Jen Lee, John M. Graham, Amy Goldstein, Ruben Portier, Stephanie Efthymiou, Yiran Xu, Ludger Schöls, Christian Beetz, Maria Gabriela Otero, Nicholas W. Wood, Najwa Anwar, Martin Kuchar, Fowzan S. Alkuraya, Tyler Mark Pierson, David Dredge, Nourelhoda A Haridy, Laetitia Lambert, Hiroyuki Ishiura, Peter Nürnberg, Luca Bartesaghi, Kishin Koh, Haitian Nan
Publikováno v:
Brain
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c62b3f0a5a44914619f38830ad9f5e
https://pubmed.ncbi.nlm.nih.gov/33970200
https://pubmed.ncbi.nlm.nih.gov/33970200
Autor:
Juliane S Müller, Adriana P. Rebelo, Fatima Rahman, Isabella Ceccherini, Shoji Tsuji, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Sherifa A. Hamed, Elham Alehabib, Vincenzo Salpietro, Hossein Darvish, Sheng Chih Jin, Katheryn Grand, Gökhan Uyanik, Henry Houlden, Rolf Stucka, Ahmed Alfares, Francisca Millan, Andrea Pedroni, Hanna Küpper, Najwa Anwar, Andrea Catala Bordes, Michele Iacomino, Dieter Gläser, Tine Deconinck, Maja Di Rocco, Federico Zara, Jin Yun Helen Chen, Shazia Maqbool, Martin Kuchar, Kishin Koh, Tim M. Strom, Filippo M. Santorelli, Nicholas W. Wood, Stephanie Efthymiou, Marcello Scala, Selina Deschner, Jenny Carmichael, Cara M. Skraban, Gudrun Nürnberg, Maria Gabriela Otero, Michael C. Kruer, Hanan E. Shamseldin, Bart P.C. van de Warrenburg, Yasuhiro Suzuki, Haitian Nan, Somayeh Bakhtiari, Willem De Ridder, Roman Chrast, Ivana Ricca, Changlian Zhu, Rebecca Schüle, Jonathan Baets, Rossella Pasquariello, Peter De Jonghe, Fowzan S. Alkuraya, Nihal Olgaç Dündar, Majid Alfadhel, Yinghong Wang, Jamileh Rezazadeh Varaghchi, Tyler Mark Pierson, David Dredge, Peter Nürnberg, Marta Rusmini, Nourelhoda A Haridy, Yoshihisa Takiyama, Manuela Wiessner, Maryam Najafi, Saghar Ghasemi Firouzabadi, Matthis Synofzik, Frederic Tran Mau-Them, Christian Beetz, Konstantinos Ampatzis, James T Peterson, Emmanuelle Schmitt, Laetitia Lambert, Erik-Jan Kamsteeg, Kaya Bilguvar, Richard A. Lewis, Jonathan De Winter, Hwei-Jen Lee, Hiroyuki Ishiura, Jean-Jacques Médard, Luca Bartesaghi, Mary J H Willis, Anna Uhrova Meszarosova, Rita Horvath, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Meng-Yuan Ni, Mohammed Anter Abdelhameed, Tobias B. Haack, Jan Senderek, Özgür Duman, Alistair T. Pagnamenta, John M. Graham, Yiran Xu, Amy Goldstein, Ruben Portier, Michaela Auer-Grumbach, Ludger Schöls, Reza Maroofian, Stephan Züchner, Saeed Al Tala
Publikováno v:
Brain
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain, 144, 1422-1434
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain, 144, 1422-1434
Contains fulltext : 237881.pdf (Publisher’s version ) (Open Access) Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032194096789f9a56cdf70372f329787
https://doi.org/10.1093/brain/awab041
https://doi.org/10.1093/brain/awab041
Autor:
Lisa Ohden, Jenny Morton, M. J. Hajianpour, Geoffrey Beek, Rebecca C. Spillmann, Donald Basel, Christine Shieh, Joel P. Mackay, Richard S. Finkel, Stanley F. Nelson, Andrew Choi, Shane McKee, Thomas D. Challman, Karen E. Wain, Loren D M Pena, Rosemarie Smith, David R. FitzPatrick, Natasha Jones, John M. Graham, Brigitte Vanle, Samantha A. Vergano, Kay Metcalfe, Julian A. Martinez, Ana Berta Sousa, Luis O Rohena, Usha Kini, Alden Y. Huang, Andrew Dauber, Maria Gabriela Otero, Karen W. Gripp, Mauricio R. Delgado, Roman Yusupov, Judith D. Ranells, Miranda Splitt, David Chitayat, Mary-Louise Freckmann, Juan I. Young, Emilie D. Douine, Eric D. Marsh, Helen Cox, Sunita Venkateswaran, Jane A. Hurst, Ingrid P. Taff, Margaret G. Au, Katheryn Grand, Laura Davis-Keppen, Hilary J. Vernon, Andrea H. Seeley, Tyler Mark Pierson, Hane Lee, Ana P. G. Silva, Katherine Lachlan, Sakkubai Naidu, Sonal Mahida, James J. Dowling
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Genet Med
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Genet Med
Copyright © 2020, American College of Medical Genetics and Genomics
Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). Methods: Fifty GAND subjects were evaluated to determine consi
Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). Methods: Fifty GAND subjects were evaluated to determine consi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ff8e5070bc30442280c26cec65f877
Autor:
Renkui Bai, John M. Graham, Margaret G. Au, Maria Gabriela Otero, Emmanuelle Tiongson, Jaemin Kim, Francisca Millian Zamora, Tyler Mark Pierson, Katherine D. Mathews, Hong Cui, Ashley Collier, Katrina Haude, Cynthia J. Tifft, Frank Diaz, David H. Adams, Camilo Toro, Lesley Turner, David Buckley, Karin Panzer, Richard A. Lewis, William A. Gahl
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 6, iss 1
Annals of clinical and translational neurology, vol 6, iss 1
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families. We report four subjects with features th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21960007f9bc794a0f0712fc2e254f40
http://europepmc.org/articles/PMC6331954
http://europepmc.org/articles/PMC6331954
Autor:
Tyler Mark Pierson, Phillip J. Kenny, Maria Gabriela Otero, Jaemin Kim, Yogesh K. Kushwaha, Fabian David Nonis
Publikováno v:
Molecular Genetics and Metabolism. 132:S86-S87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5163295b7f8946a1964075e0325b5b80
https://doi.org/10.1016/j.ymgme.2020.12.206
https://doi.org/10.1016/j.ymgme.2020.12.206
Autor:
Katheryn Grand, Maria Gabriela Otero, John M. Graham, Andrew Choi, Juan I. Young, Joel P. Mackay, Tyler Mark Pierson
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 181(4)
The nucleosome remodeling and deacetylase (NuRD) complex is a major regulator of gene expression involved in pluripotency, lineage commitment, and corticogenesis. This important complex is composed of seven different proteins, with mutations in CHD3,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326d16ebe535549f437d56516abfd71d
https://pubmed.ncbi.nlm.nih.gov/31737996
https://pubmed.ncbi.nlm.nih.gov/31737996
Publikováno v:
Molecular Genetics and Metabolism. 132:S72
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3244ec508b4c6aedcbbb37a500fe296f
https://doi.org/10.1016/s1096-7192(21)00189-x
https://doi.org/10.1016/s1096-7192(21)00189-x
Publikováno v:
Alzheimer's & Dementia. 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ec3ee45cb5c2ce1a46cb5a6293f91f3
https://doi.org/10.1016/j.jalz.2012.05.1162
https://doi.org/10.1016/j.jalz.2012.05.1162
P3‐147: Axonal transport of the ubiquitin‐proteasome system and it relevance for protein degradation
Publikováno v:
Alzheimer's & Dementia. 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b8fa273205f6fd3b653017aa9b0fae2
https://doi.org/10.1016/j.jalz.2011.05.1587
https://doi.org/10.1016/j.jalz.2011.05.1587