Resultados de procura - Darius J. Adams

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  1. 1
    International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria por Ania C. Muntau, Darius J. Adams, Amaya Bélanger-Quintana, Т.V. Bushueva, R. Cerone, Yin‐Hsiu Chien, Ana Chiesa, Turgay Coşkun, Javier de las Heras, François Feillet, Rachel Katz, Florian B. Lagler, Flávia Piazzon, Fran Rohr, Francjan J. van Spronsen, Paula Vargas, Gisela Wilcox, Kaustuv Bhattacharya

    Publicado 2019
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  2. 2
    Newborn screening for Krabbe disease in New York State: the first eight years’ experience

    Newborn screening for Krabbe disease in New York State: the first eight years’ experience por Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra‐Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad K. Biski, Monica Martin, Lea M. Krein, Matthew Nichols, Joanne Kurtzberg, Maria L. Escolar, Darius J. Adams, Georgianne L. Arnold, Alejandro Iglesias, Patricia Galvin‐Parton, David F. Kronn, Jennifer M. Kwon, Paul A. Levy, Joan E. Pellegrino, Natasha Shur, Melissa Wasserstein, Michele Caggana

    Publicado 2016
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  3. 3
    An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

    An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phe... por Meena Upadhyaya, Susan Huson, D. M. Davies, N S Thomas, Nadia Chuzhanova, Sara Giovannini, D. Gareth Evans, Elizabeth Howard, Bronwyn Kerr, S. W. Griffiths, Claudia Consoli, Lucy Side, Darius J. Adams, Mary Ella Pierpont, Rachel K. Hachen, Angela Barnicoat, H. Li, P L Wallace, J.P. Van Biervliet, David A. Stevenson, David Viskochil, Diana Baralle, Eric Haan, Vincent M. Riccardi, Peter D. Turnpenny, Conxi Lázaro, Ludwine Messiaen

    Publicado 2006
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  4. 4
    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation por Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans J. P. M. Koenen, Darius J. Adams, Julia Vodopiutz, Susanne Greber‐Platzer, Thomas Müller, Gregor Dueckers, Éva Morava, Jolanta Sykut‐Cegielska, Gerard J.M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber

    Publicado 2016
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  5. 5
    Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

    Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia por Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw, Duyang Kim, Isabel Hubbard, Samantha Fennessey, Nadia Propp, Delphine Fagegaltier, Brent T. Harris, Lyle W. Ostrow, Hemali Phatnani, John Ravits, Josh Dubnau, Molly Hammell, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steven Finkbeiner, Efthimios Dardiotis, Jonathan Mill, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman‐Patterson, Molly Hammell, Nikolaos A. Patsopoulos, Oleg Butovsky, Josh Dubnau, Avindra Nath, Robert Bowser, Matt Harms, Eleonora Aronica, Mary Poss, Jennifer E. Phillips‐Cremins, John F. Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Robert W. Baloh, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent T. Harris

    Publicado 2019
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  6. 6
    Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

    Cell environment shapes TDP-43 function with implications in neuronal and muscle disease por Urša Šušnjar, Neva Škrabar, Anna‐Leigh Brown, Yasmine Abbassi, Hemali Phatnani, Hemali Phatnani, Pietro Fratta, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, E. B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, James Berry, Oleg Butovsky, Robert H. Baloh, Ophir Shalem, Terry Heiman‐Patterson, Leonidas Stefanis, Siddharthan Chandran, Suvankar Pal, Claire M. Smith, Andrea Malaspina, Molly Hammell, Nikolaos A. Patsopoulos, Josh Dubnau, Mary Poss, Boya Zhang, Noah Zaitlen, Eran Hornstein, Jonathan Mill, Efthimios Dardiotis, Robert Bowser, Vilas Menon, Matthew B. Harms, Nazem Atassi, Dale J. Lange, Daniel J. MacGowan, Corey T. McMillan, Eleonora Aronica, Brent T. Harris, John Ravits, John F. Crary, Leslie M. Thompson, Towfique Raj, Sabrina Paganoni, Darius J. Adams, Suma Babu, Vivian E. Drory, Marc Gotkine, Iris Broce, Jennifer E. Phillips‐Cremins, Avindra Nath, Steven Finkbeiner, Gregory A. Cox, Andrea Cortese, Cristina Cereda, Enrico Bugiardini, Rosanna Cardani, G. Meola, Michela Ripolone, Maurizio Moggio, Maurizio Romano, Maria Secrier, Pietro Fratta, Emanuele Buratti

    Publicado 2022
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  7. 7
    Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission

    Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission por Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P.A. Stegmann, Carlos E. Prada, Robert J. Hopkin, Joseph T.C. Shieh, Kirsty McWalter, Kristin G. Monaghan, Peter M. van Hasselt, Koen L.I. van Gassen, Ting Bai, Long Min, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A. Scott, Seema R. Lalani, Mahshid S. Azamian, Grazia M.S. Mancini, Darius J. Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa Osei‐Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gécz, Eric Haan, Judith D. Ranells, Melissa Racobaldo, Magnus Nordenskjöld, Suneeta Madan‐Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill A. Rosenfeld, Bert B.A. de Vries, Raphael Bernier, Qing Xu, Honghui Li, Wei Xie, Robert B. Hufnagel, Evan E. Eichler, Kun Xia

    Publicado 2019
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  8. 8
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects por Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Publicado 2017
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  9. 9
    An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

    An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients por Jonathan Li, Ryan G. Lim, Julia Kaye, Victoria Dardov, Alyssa N. Coyne, Jie Wu, Pamela Milani, Andrew T. Cheng, Terri G. Thompson, Loren Ornelas, Aaron P. Frank, Miriam Adam, Maria G. Bañuelos, Malcolm Casale, Veerle Cox, Renan Escalante-Chong, J. Gavin Daigle, Emilda Gomez, Lindsey R. Hayes, Ronald Holewenski, Susan Lei, Alex Lenail, Leandro de Araújo Lima, Berhan Mandefro, Andrea Matlock, Lindsay Panther, Natasha Leanna Patel-Murray, Jacqueline T. Pham, Divya Ramamoorthy, Karen Sachs, Brandon Shelley, Jennifer Stocksdale, Hannah Trost, Mark Wilhelm, Vidya Venkatraman, Brook T. Wassie, Stacia K. Wyman, Stephanie Yang, Jennifer E. Van Eyk, Thomas E. Lloyd, Steven Finkbeiner, Ernest Fraenkel, Jeffrey D. Rothstein, Dhruv Sareen, Clive N. Svendsen, Leslie M. Thompson, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steven Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman‐Patterson, Molly Hammell, Nikolaos A. Patsopoulos, Oleg Butovsky, Josh Dubnau, Avindra Nath, Robert Bowser, Matt Harms, Mary Poss, Jennifer E. Phillips‐Cremins, John F. Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Robert H. Baloh, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent T. Harris, Iris Broce, Vivian E. Drory, John Ravits, Corey T. McMillan, Vilas Menon

    Publicado 2021
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  10. 10
    TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

    TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A por Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora Lee, Laura Masino, Yue Qi, Sam Bryce-Smith, Ariana Gatt, Martina Hallegger, Delphine Fagegaltier, Hemali Phatnani, Hemali Phatnani, Justin Kwan, Dhruv Sareen, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Edward B. Lee, Vivianna M. Van Deerlin, Neil A. Shneider, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steven Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman‐Patterson, Molly Hammell, Nikolaos A. Patsopoulos, Oleg Butovsky, Josh Dubnau, Avindra Nath, Robert Bowser, Matthew B. Harms, Eleonora Aronica, Mary Poss, Jennifer E. Phillips‐Cremins, John F. Crary, Nazem Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, Marc Gotkine, Robert H. Baloh, Suma Babu, Towfique Raj, Sabrina Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent T. Harris, Iris Broce, Vivian E. Drory, John Ravits, Corey T. McMillan, Vilas Menon, Lani F. Wu, Steven J. Altschuler, Yossef Lerner, Rita Sattler, Kendall Van Keuren‐Jensen, Orit Rozenblatt–Rosen, Kerstin Lindblad‐Toh, Katharine Nicholson, Peter K. Gregersen, Jeong‐Ho Lee, Sulev Kõks, Stephen Muljo, Jia Newcombe, Emil K. Gustavsson, Sahba Seddighi, Joel F. Reyes, Steven L. Coon, Daniel M. Ramos, Giampietro Schiavo, Elizabeth Fisher, Towfique Raj, Maria Secrier, Tammaryn Lashley, Jernej Ule, Emanuele Buratti, Jack Humphrey, Michael E. Ward, Pietro Fratta

    Publicado 2022
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