Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Winnie W. Xin"'
Autor:
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine
Publikováno v:
Neuron, 97(6), 1268. Cell Press
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
© 2018 Elsevier Inc.
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb7ec307960d0e43e5575923f90d005
https://dspace.library.uu.nl/handle/1874/363799
https://dspace.library.uu.nl/handle/1874/363799
Autor:
Aurea Vera-Loaiza, Kendrick Goss, María Teresa Gorráez-de la Mora, Raul E. Piña-Aguilar, Yuritzi Santillán-Hernández, Winnie W Xin, Enory Almanza-Miranda
Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73b260b555bbaa8f7ad70570fc4597e
https://europepmc.org/articles/PMC4299316/
https://europepmc.org/articles/PMC4299316/
Autor:
Rosenblum LS; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts. Electronic address: lrosenbl@wakehealth.edu., Auger SM; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts., Zhu H; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts., Zhou Z; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts., Xin W; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts., Reiner J; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts., Wolf Z; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts., Leach NT; Molecular Diagnostics Laboratory, Labcorp, Westborough, Massachusetts.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Mar; Vol. 26 (3), pp. 202-212. Date of Electronic Publication: 2024 Jan 01.
Autor:
Reiner J; Labcorp, Westborough, MA. Electronic address: reinerj@labcorp.com., Rosenblum LS; Labcorp, Westborough, MA., Xin W; Labcorp, Westborough, MA., Zhou Z; Labcorp, Westborough, MA., Zhu H; Labcorp, Westborough, MA., Leach N; Labcorp, Westborough, MA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100317. Date of Electronic Publication: 2022 Dec 01.
Autor:
Maron MS; Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass. Electronic address: mmaron@tuftsmedicalcenter.org., Xin W; Neurogenetics DNA Diagnostic Laboratory and Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston., Sims KB; Neurogenetics DNA Diagnostic Laboratory and Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston., Butler R; Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass., Haas TS; Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, Minn., Rowin EJ; Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass., Desnick RJ; Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY., Maron BJ; Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass.
Publikováno v:
The American journal of medicine [Am J Med] 2018 Feb; Vol. 131 (2), pp. 200.e1-200.e8. Date of Electronic Publication: 2017 Sep 21.
Autor:
Sleat DE; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States.; Department of Biochemistry and Molecular Biology, Robert-Wood Johnson Medical School, Rutgers Biomedical Health Sciences , Piscataway, New Jersey 08854, United States., Tannous A; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States., Sohar I; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States., Wiseman JA; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States., Zheng H; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States., Qian M; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States., Zhao C; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States., Xin W; Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital, Harvard Medical School , Boston, Massachusetts 02115, United States., Barone R; Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital, Harvard Medical School , Boston, Massachusetts 02115, United States., Sims KB; Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital, Harvard Medical School , Boston, Massachusetts 02115, United States., Moore DF; Department of Biostatistics, School of Public Health, Rutgers - The State University of New Jersey , Piscataway, New Jersey 08854, United States., Lobel P; Center for Advanced Biotechnology and Medicine , Piscataway, New Jersey 08854, United States.; Department of Biochemistry and Molecular Biology, Robert-Wood Johnson Medical School, Rutgers Biomedical Health Sciences , Piscataway, New Jersey 08854, United States.
Publikováno v:
Journal of proteome research [J Proteome Res] 2017 Oct 06; Vol. 16 (10), pp. 3787-3804. Date of Electronic Publication: 2017 Aug 28.
Autor:
Gluchowski NL; Division of Gastroenterology and Nutrition, Boston Children's Hospital, Boston, MA 02115.; Department of Genetics and Complex Diseases, Harvard T. H. Chan School of Public Health, Boston, MA 02115.; Harvard Medical School, Boston, MA 02115., Chitraju C; Department of Genetics and Complex Diseases, Harvard T. H. Chan School of Public Health, Boston, MA 02115.; Harvard Medical School, Boston, MA 02115., Picoraro JA; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Columbia University Medical Center, New York, NY 10027., Mejhert N; Department of Genetics and Complex Diseases, Harvard T. H. Chan School of Public Health, Boston, MA 02115.; Harvard Medical School, Boston, MA 02115., Pinto S; Merck & Co., Inc., Kenilworth, NJ 07033., Xin W; Harvard Medical School, Boston, MA 02115.; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114., Kamin DS; Division of Gastroenterology and Nutrition, Boston Children's Hospital, Boston, MA 02115.; Harvard Medical School, Boston, MA 02115., Winter HS; Harvard Medical School, Boston, MA 02115.; Division of Gastroenterology, MassGeneral Hospital for Children, Boston, MA 02114., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10027., Walther TC; Department of Genetics and Complex Diseases, Harvard T. H. Chan School of Public Health, Boston, MA 02115 twalther@hsph.harvard.edu robert@hsph.harvard.edu.; Harvard Medical School, Boston, MA 02115.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142.; Howard Hughes Medical Institute, Boston, MA 02115., Farese RV Jr; Harvard Medical School, Boston, MA 02115 twalther@hsph.harvard.edu robert@hsph.harvard.edu.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142.
Publikováno v:
Journal of lipid research [J Lipid Res] 2017 Jun; Vol. 58 (6), pp. 1230-1237. Date of Electronic Publication: 2017 Apr 03.
Autor:
Fietz M; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Australia., AlSayed M; Department of Medical Genetics, Alfaisal University, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Burke D; Chemical Pathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, London, UK., Cohen-Pfeffer J; BioMarin Pharmaceutical Inc., Novato, CA, USA., Cooper JD; Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Dvořáková L; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic., Giugliani R; Medical Genetics Service, HCPA, Department of Genetics, UFRGS, INAGEMP, Porto Alegre, Brazil., Izzo E; BioMarin Pharmaceutical Inc., Novato, CA, USA., Jahnová H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic., Lukacs Z; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, Hamburg, Germany., Mole SE; MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, University College London, London, UK., Noher de Halac I; Facultad de Ciencias Médicas, Universidad Nacional de Córdoba and National Research Council-CONICET, Córdoba, Argentina., Pearce DA; Sanford Children's Health Research Center, Sioux Falls, SD, USA., Poupetova H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic., Schulz A; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Specchio N; Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy., Xin W; Neurogenetics DNA Diagnostic Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Miller N; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: NMiller@bmrn.com.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2016 Sep; Vol. 119 (1-2), pp. 160-7. Date of Electronic Publication: 2016 Jul 25.
Autor:
Bastepe M; Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.; Genetics Training Program, Harvard Medical School, Boston, Massachusetts.; Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts., Xin W; Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.; Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Publikováno v:
Current protocols in human genetics [Curr Protoc Hum Genet] 2015 Oct 06; Vol. 87, pp. 9.26.1-9.26.23. Date of Electronic Publication: 2015 Oct 06.
Autor:
Kohan R; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: kohanromina@gmail.com., Pesaola F; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: favio.pesaola@gmail.com., Guelbert N; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: nguelbert@arnet.com.ar., Pons P; Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Haya de la Torre esq. Enrique Barros, 1º piso, 5000 Córdoba, Argentina. Electronic address: ppons@cmefcm.uncor.edu., Oller-Ramírez AM; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: ramirezoller@gmail.com., Rautenberg G; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: giselarautenberg@hotmail.com., Becerra A; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina. Electronic address: dra.adrianabecerra@hotmail.com., Sims K; Massachussets General Hospital, Neurology Department, Center for Genetic Research [CHGR], Boston, MA 02114, USA. Electronic address: sims@helix.mgh.harvard.edu., Xin W; Massachussets General Hospital, Neurology Department, Center for Genetic Research [CHGR], Boston, MA 02114, USA. Electronic address: xin@helix.mgh.harvard.edu., Cismondi IA; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina. Electronic address: ines.adriana.cismondi@unc.edu.ar., Noher de Halac I; Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Ferroviarios 1250, 5014 Córdoba, Argentina; Facultad de Odontología, Universidad Nacional de Córdoba, Haya de la Torre s/n, 5000 Córdoba, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Av. Rivadavia 1917, C1033AAJ CABA, Argentina. Electronic address: nclcemeco1789@gmail.com.
Publikováno v:
Biochimica et biophysica acta [Biochim Biophys Acta] 2015 Oct; Vol. 1852 (10 Pt B), pp. 2301-11. Date of Electronic Publication: 2015 May 11.