Zobrazeno 1 - 10
of 351
pro vyhledávání: '"Rady Children's Institute for Genomic Medicine"'
Autor:
Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detaili
Externí odkaz:
https://doaj.org/article/211965e9a0db43ff95c127867f618eb6
Autor:
Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Abou Jamra, Rami, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna CE, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Rady Children's Institute for Genomic Medicine, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Undiagnosed Disease Network, Qebibo, Leila, Wieczorek, Dagmar, Cravatt, Benjamin, Haricharan, Svasti, Torkamani, Ali, Friedman, Jennifer
Publikováno v:
Brain : a journal of neurology, vol 145, iss 10
The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine childre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::7c134c70b4c7309d0cc1dbc2664d87c2
https://escholarship.org/uc/item/1tp7967m
https://escholarship.org/uc/item/1tp7967m
Autor:
Ng, Andrew, Galosi, Serena, Salz, Lisa, Wong, Terence, Schwager, Caitlin, Amudhavalli, Shivarajan, Gelineau-Morel, Rose, Chowdhury, Shimul, Friedman, Jennifer, Rady Children’s Institute for Genomic Medicine Investigators
Publikováno v:
BMC Neurology; 6/16/2020, Vol. 20 Issue 1, p1-6, 6p, 2 Black and White Photographs, 1 Diagram, 1 Chart
Publikováno v:
Business Wire (English). 05/16/2017.
Autor:
Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I, International Working Group on Neurotransmitter Related Disorders
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia
RM; Trastornos hereditarios de neurotransmisores; Monoaminas; Deficiencia de tetrahidrobiopterina RM; Trastorns dels neurotransmissors heretats; Monoamines; Deficiència de tetrahidrobiopterina MRI; Inherited neurotransmitter disorders; Monoamines; T
Autor:
Lluis Quintana-Murci, Etienne Patin, Jean-Laurent Casanova, Laurent Abel, Anne Puel, Jérémie Rosain, Shen-Ying Zhang, Vivien Béziat, Joseph G. Gleeson, Anne Gregor, Emmanuelle Jouanguy, Franck Rapaport, Stéphanie Boisson-Dupuis, Qian Zhang, Bertrand Boisson, Jacinta Bustamante
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (3), pp.e2001248118. ⟨10.1073/pnas.2001248118⟩
Proc Natl Acad Sci U S A
International audience; Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection. We study the determinants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::332643eea3ed76761b7b3dd8b898b419
https://hal.archives-ouvertes.fr/hal-03372676
https://hal.archives-ouvertes.fr/hal-03372676
Autor:
David Dimmock, Marisa W. Friederich, Kenneth N. Maclean, Austin Larson, Jaclyn Haven, Johan L.K. Van Hove, Jonathan Schoof, Tobias B. Haack, Katie Styren, Logan Ellwood‐Digel, Maike Friederich, Aaron P. Landry, Alice Kuster, Hua Jiang, Lucia Laugwitz, David M. Mirsky, Thomas Lefrancois, Curtis R. Coughlin, Abdallah F. Elias, Ruma Banerjee, Louise Goujon
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2020, 43 (5), pp.1024-1036. ⟨10.1002/jimd.12232⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2020, 43 (5), pp.1024-1036. ⟨10.1002/jimd.12232⟩
International audience; Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (geneSQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17685134fb2de24c6c211fbf607675ff
https://hal.inrae.fr/hal-03209219
https://hal.inrae.fr/hal-03209219
Autor:
Georg F. Hoffmann, Toni S. Pearson, Birgit Assmann, Yilmaz Yildiz, Beat Thöny, Roser Pons, Elisenda Cortès-Saladelafont, Helly Goez, Francesco Porta, Marcel M. Verbeek, H. Serap Sivri, Sabine Scholl-Bürgi, Gabriella Horvath, Simon Heales, Tessa Wassenberg, Manju A. Kurian, Kathrin Jeltsch, Eduardo López-Laso, Thomas Opladen, Angeles Garcia-Cazorla, Oya Kuseyri Hübschmann, Jennifer Friedman, Jan Kulhánek, Rafael Artuch, Vincenzo Leuzzi, Mario Mastrangelo, Luc Régal, Simon Pope, Tomas Honzik, Alberto Burlina
Publikováno v:
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
BackgroundTetrahydrobiopterin (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 BH4biosynthesis or recycl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0605a6e02a35c8c305cd624486cf4ef
Autor:
Wong NR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD., Klomhaus A; Department of General Internal Medicine and Health Services Research, University of California, Los Angeles, CA., Adams DJ; University of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA., Schneider BN; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, CA., Mehta S; PrairieCare Medical Group, Rochester, MN., DiStefano C; Children's Hospital Los Angeles, Department of Psychiatry, Los Angeles, CA; University of Southern California, Department of Psychiatry and The Biobehavioral Sciences, Los Angeles, CA., Wilson RB; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, CA., Martinez-Agosto JA; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, CA; University of California Los Angeles, Department of Human Genetics, Los Angeles, CA., Jeste SS; Children's Hospital Los Angeles, Division of Neurology, Los Angeles, CA; University of Southern California, Departments of Pediatrics and Neurology, Los Angeles, CA., Besterman AD; University of California San Diego Department of Psychiatry, Division of Child and Adolescent Psychiatry, San Diego, CA; Rady Children's Hospital of San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA. Electronic address: abesterman@health.ucsd.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 10, pp. 101252. Date of Electronic Publication: 2024 Oct 10.
Autor:
Stehr AM; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany., Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California, La Jolla, California, USA.; Department of Pediatrics, University of California, La Jolla, California, USA., Dobbelaere D; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Hospital, Lille, France.; RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364 CHRU Lille, Lille, France., Imbard A; Laboratoire de Biochimie Métabolique, Hôpital Necker-Enfants Malades and Faculty of Pharmacy, Université Paris-Saclay, Paris, France.; Laboratoire de Biologie médicale Multisites Seqoia - FMG2025, Paris, France., Levy J; Laboratoire de Biologie médicale Multisites Seqoia - FMG2025, Paris, France.; Genetics Department, Robert Debré Hospital, APHP, Paris, France., Donoghue S; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia., Derive N; Laboratoire de Biologie médicale Multisites Seqoia - FMG2025, Paris, France., Stoeva R; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France., Gueguen P; Laboratoire de Biologie médicale Multisites Seqoia - FMG2025, Paris, France.; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Zech M; School of Medicine and Health, Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Oct 05. Date of Electronic Publication: 2024 Oct 05.