Результаты поиска - Anirban Majumdar

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  1. 1
    Men with Duchenne muscular dystrophy and end of life planning

    Men with Duchenne muscular dystrophy and end of life planning по David Abbott, Helen Prescott, Karen Forbes, John F. Fraser, Anirban Majumdar

    Опубликовано 2016
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    Artigo
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  2. 2
    A study to evaluate the prevalence of hypogonadism in Indian males with Type-2 diabetes mellitus

    A study to evaluate the prevalence of hypogonadism in Indian males with Type-2 diabetes mellitus по Raeesuddin Syed, PankajKumar Agarwal, Parminder Singh, Subhankar Chowdhury, SK Sharma, Anirban Majumdar, Parag Shah, Rakesh Sahay, SVageesh Ayyar, Hemant Phatale, ChandarM Batra, P. S. Shetty

    Опубликовано 2016
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    Artigo
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  3. 3
    Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain

    Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain по Nikki Cornell, Anne‐Marie Childs, Elizabeth Wraige, Pinki Munot, Gautam Ambegaonkar, Gabriel Chow, Imelda Hughes, Marjorie Illingworth, Anirban Majumdar, Chiara Marini‐Bettolo, Deepak Parasuraman, Stefan Spinty, Tracey Willis, Mariacristina Scoto, Giovanni Baranello

    Опубликовано 2024
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    Artigo
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  4. 4
    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies по Karen W. Gripp, Sarah Smithson, Ingrid Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather M. McLaughlin, Lisette Leeuwen, Marleen Simon, Ellen van Binsbergen, Mary Beth Dinulos, Julie Kaplan, Anne McRae, Andrea Superti‐Furga, Jean‐Marc Good, Kerstin Kutsche

    Опубликовано 2021
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    Artigo
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  5. 5
    Recurrent de novo<i>SPTLC2</i>variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

    Recurrent de novo<i>SPTLC2</i>variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis по Safoora Syeda, Museer A. Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot, Marcondes C. França, Juan Eli Galarza-Brito, Matthias Eckenweiler, Alexander Asamoah, Kenneth Gable, Anirban Majumdar, Anke Schumann, Sita D. Gupta, Arpita Lakhotia, Perry B. Shieh, A. Reghan Foley, Kelly E. Jackson, Katherine R. Chao, Thomas Winder, Francesco Catapano, Lucy Feng, Janbernd Kirschner, Francesco Muntoni, Teresa Dunn, Thorsten Hornemann, Carsten G. Bönnemann

    Опубликовано 2023
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    Artigo
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  6. 6
    Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

    Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies по Ann E. Davidson, Fazeel Siddiqui, Michael A. Lopez, Peter Lunt, Heather A. Carlson, Brian E. Moore, Seth Love, Donald E. Born, Helen Roper, Anirban Majumdar, Suman Jayadev, Hunter R. Underhill, Corrine O. Smith, Maja von der Hagen, Angela Hübner, Philip Jardine, Andria Merrison, Elizabeth Curtis, Thomas Cullup, Heinz Jungbluth, Mary O. Cox, Thomas Winder, Hossam Abdel Salam, Jun Z. Li, Steven A. Moore, James J. Dowling

    Опубликовано 2013
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    Artigo
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  7. 7
    Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom

    Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom по Vasantha Gowda, Mark Atherton, Archana Murugan, Laurent Servais, Jennie Sheehan, Emma Standing, Adnan Manzur, Mariacristina Scoto, Giovanni Baranello, Pinki Munot, Gary McCullagh, Tracey Willis, Sandya Tirupathi, Iain Horrocks, Anil Dhawan, Michael Eyre, Maria Vanegas, Miguel Ángel Fernández-García, Amy Wolfe, Laura Pinches, Marjorie Illingworth, Marion Main, Lianne Abbott, Hayley Smith, Emily Milton, Sarah D’Urso, Kayal Vijayakumar, Silvia Sanchez Marco, Sinead Warner, Emily Reading, Isobel Douglas, Francesco Muntoni, Min Ong, Anirban Majumdar, Imelda Hughes, Heinz Jungbluth, Elizabeth Wraige

    Опубликовано 2023
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    Artigo
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  8. 8
    Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations

    Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations по Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt, Gina O’Grady, Leigh B. Waddell, Frances J. Evesson, Sandra B. T. Cooper, Christian Turner, Jennifer Duff, Ana Töpf, Dèlia Yubero, Cristina Jou, A. Nascimento, C. Ortez, Àngels García‐Cazorla, Claudia Groß, María del Mar O’Callaghan, Saikat Santra, M A Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Anirban Majumdar, Germaine Pierre, Daniel McArthur, Kyle Thompson, Plácido Navas, Antònia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Geòrgia Sarquella-Brugada, Hanns Lochmüller, C. Jimenez‐Mallebrera, Robert W. Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C. Grünert, Andreas Roos, Rita Horváth

    Опубликовано 2019
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    Artigo
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  9. 9
    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    Clinical presentation and proteomic signature of patients with TANGO2 mutations по Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita

    Опубликовано 2019
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    Текст
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  10. 10
    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing по Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P. Badrock, Mathieu P. Rodero, Marie‐Thérèse El‐Daher, Gillian Rice, Somdutta Dhir, Ann P. Wheeler, Ashish Dhir, Waad Albawardi, Marie‐Louise Frémond, Luís Seabra, Jennifer Doig, Natalie Blair, Maria José Martin-Niclós, Erika Della Mina, Alejandro Rubio-Roldán, José L. García-Pérez, Duncan Sproul, Jan Rehwinkel, Jonny Hertzog, Anne Boland, Robert Olaso, Jean‐François Deleuze, Julien Baruteau, Karine Brochard, Jonathan D. Buckley, Vanessa Cavallera, Cristina Cereda, Liesbeth M. H. De Waele, Angus Dobbie, Diane Doummar, Frances Elmslie, Margarete Koch‐Hogrebe, Ram Kumar, Kate Lamb, John H. Livingston, Anirban Majumdar, Charles Marques Lorenço, Simona Orcesi, Sylviane Peudenier, Kevin Rostásy, Caroline A. Salmon, Christiaan Scott, Davide Tonduti, Guy Touati, Marialuisa Valente, Hélio van der Linden, Hilde Van Esch, Marie Vermelle, Kate Webb, Andrew P. Jackson, Martin A.M. Reijns, Nick Gilbert, Yanick J. Crow

    Опубликовано 2020
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    Artigo
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  11. 11
    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project по Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carlos Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Hussein, Sarah Lindsay, Fiona Lalloo, Benito Banos‐Pinero, David M. Evans, Lucy Mallin, Adrian J. Waite, Julie Evans, Andrew G. Newman, Zoe Allen, Cristina Perez‐Becerril, Gavin Ryan, Rachel Hart, John‐Stephen Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw‐Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily E. Anderson, Rajesh Madhu, Helen V. Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise C. Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig, Jenny C. Taylor

    Опубликовано 2024
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  12. 12
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness по Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina England, Kristen M. Laricchia, T. Mullen, Elise Valkanas, Liwen Xu, Marta Bértoli, A. Blain, Ana Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso‐Pérez, Jonathan Baets, Nina Barišić, Alexandra Bastian, S. Borell, Teodora Chamova, Kristl G. Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem De Ridder, Jordi Díaz‐Manera, Cristina Domínguez‐González, Alexis E. Duncan, Hacer Durmuş, Nagia Fahmy, Maria Elena Farrugia, Roberto Fernández‐Torrón, Lídia González-Quereda, Jana Haberlová, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, I. Jericó Pascual, Solange Kapetanovic, Viktorija Ķēniņa, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera‐Pruszczyk, R. Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munaín, Wolfgang N. Löscher, Anna Łusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, A. Nascimento, Shahriar Nafissi, Shirin Jamal Omidi, C. Ortez, Stéphanie Paquay, Yann Péréon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, I Sánchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang‐Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan J. Vílchez, Katharina Vill, John Vissing, Carina Wallgren‐Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

    Опубликовано 2020
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  13. 13
    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy по Jean K. Mah, Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, M. Tulinius, Yoram Nevo, Monique M. Ryan, Richard Webster, Diana Castro, Nancy L. Kuntz, Craig M. McDonald, Jesse M. Damsker, Benjamin D. Schwartz, L. Mengle-Gaw, Stefan A. Jackowski, Georgia Stimpson, Deborah Ridout, Vandana Ayyar Gupta, Giovanni Baranello, Adnan Y. Manzur, Francesco Muntoni, Heather Gordish‐Dressman, Mika Leinonen, Leanne M. Ward, Eric P. Hoffman, Utkarsh J. Dang, Francesco Muntoni, Adnan Manzur, Giovanni Baranello, S. Robb, Rosaline C. M. Quinlivan, Anna Sárközy, Pinki Munot, Marion Main, Lianne Abbot, Volker Straub, Michela Guglieri, Chiara Bertolli, Anna Mayhew, Robert Muni‐Lofra, M. James, Jassi Sodhi, Deepak Parasuraman, Z. Alhaswani, Heather McMurchie, Rosanna Rabb, Anne‐Marie Childs, Karen Pysden, Lindsey Pallant, Tiffany Small, Stefan Spinty, R Madhu, Alison Shillington, Sarah Gregson, Elizabeth Wraige, Heinz Jungbluth, Vasantha Gowda, Jennie Sheehan, Imelda Hughes, Sinead Warner, Emily Davies, Tracey Willis, R. Kulshrestha, N. Emery, Kate Strachan, Min Ong, Kay White, Kate Skone, Frances Gibbon, Bethan Parsons, Anirban Majumdar, Kayal Vijaykumar, Faye Mason, Claire Frimpong-Ansah, Karen Naismith, Julie Burslem, Iain Horrocks, Marina Di Marco, Sarah M. Brown, Sarah Williamson, Kirstie Spencer, Gabby Chow, Christian de Goede, Andrea Selley, Neil Thomas, Marjorie Illingworth, Michelle Greary, Jenni Palmer, Cathy White, Kate Greenfield, Grainne Nic Fhirleinn, Melanie Douglas, Sandya Tiraputhi, Nahin Hussain, Yvonne Julien, Gautam Ambegaonkar, Deepa Krishnakumar, Jacqui Taylor, Jane Tewnion

    Опубликовано 2022
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