Resultados da busca - Rahul Phadke

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  1. 1
    LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

    LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort por Alberto A. Zambon, Deborah Ridout, M. Main, R. Mein, Rahul Phadke, Francesco Muntoni, Anna Sárközy

    Publicado em 2020
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  2. 2
    Qualitative Ultrasound in Acute Critical Illness Muscle Wasting

    Qualitative Ultrasound in Acute Critical Illness Muscle Wasting por Zudin Puthucheary, Rahul Phadke, Jaikitry Rawal, Mark McPhail, Paul S. Sidhu, A Rowlerson, John Moxham, Stephen D. R. Harridge, Nicholas Hart, Hugh Montgomery

    Publicado em 2015
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  3. 3
    Congenital myopathies

    Congenital myopathies por Irene Colombo, Mariacristina Scoto, Adnan Y. Manzur, S. Robb, Lorenzo Maggi, Vasantha Gowda, Thomas Cullup, Michael Yau, Rahul Phadke, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    Publicado em 2014
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  4. 4
    GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)

    GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2) por M. Desikan, R. Scalco, Andreea Manole, A. Gardiner, Anthony H.V. Schapira, Robin Lachmann, Henry Houlden, Janice L. Holton, Rahul Phadke, Rosaline C. M. Quinlivan

    Publicado em 2018
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  5. 5
    Redefining the phenotype of ALSP and <i>AARS2</i> mutation–related leukodystrophy

    Redefining the phenotype of ALSP and <i>AARS2</i> mutation–related leukodystrophy por Rahul Lakshmanan, Matthew Adams, David S. Lynch, Justin Kinsella, Rahul Phadke, Jonathan M. Schott, Elaine Murphy, Jonathan D. Rohrer, Jeremy Chataway, Henry Houlden, Nick C. Fox, Indran Davagnanam

    Publicado em 2017
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  6. 6
    Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study

    Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study por Maria Thom, Joan Liu, Pam Thompson, Rahul Phadke, Marta Narkiewicz, Lillian Martinian, Derek Marsdon, Matthias J. Koepp, Luís Otávio Sales Ferreira Caboclo, Claudia B. Catarino, Sanjay M. Sisodiya

    Publicado em 2011
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  7. 7
    Diagnosis of Neuroinvasive Astrovirus Infection in an Immunocompromised Adult With Encephalitis by Unbiased Next-Generation Sequencing

    Diagnosis of Neuroinvasive Astrovirus Infection in an Immunocompromised Adult With Encephalitis by Unbiased Next-Generation Sequencing por Samia N. Naccache, Karl S. Peggs, Frank Mattes, Rahul Phadke, Jeremy A. Garson, Paul Grant, Erik Samayoa, Scot Federman, Steve Miller, Michael P. Lunn, Vanya Gant, Charles Y. Chiu

    Publicado em 2015
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  8. 8
    Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

    Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology por Annemieke Aartsma‐Rus, Jennifer E. Morgan, Pallavi Lonkar, Hendrik Neubert, Jane Owens, Michael Binks, Marisol Montolio, Rahul Phadke, Nicole A. Datson, J. van Deutekom, Glenn E. Morris, V. Ashutosh Rao, Eric P. Hoffman, Francesco Muntoni, Virginia Arechavala‐Gomeza

    Publicado em 2019
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  9. 9
    Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

    Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series por David S. Lynch, Zane Jaunmuktane, Una‐Marie Sheerin, Rahul Phadke, Sebastian Brandner, I. Milonas, Andrew Dean, Nin Bajaj, Nuala McNicholas, Daniel J. Costello, Simon Cronin, Chris McGuigan, Martin N. Rossor, Nick C. Fox, Elaine Murphy, Jeremy Chataway, Henry Houlden

    Publicado em 2015
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  10. 10
    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

    A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms por Marisol Sampedro Castañeda, Edmar Zanoteli, R. Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Umbertina Conti Reed, André Macedo Serafim Silva, Benjamin O’Callaghan, Rahul Phadke, Enrico Bugiardini, Richa Sud, Samuel McCall, Michael G. Hanna, Hanne Poulsen, Roope Männikkö, Emma Matthews

    Publicado em 2018
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  11. 11
    Analysis of Mutations in <i>AARS2</i> in a Series of <i>CSF1R</i>-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

    Analysis of Mutations in <i>AARS2</i> in a Series of <i>CSF1R</i>-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia por David S. Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin Kinsella, Güneş Altıokka Uzun, Merih Karbay, Zeynep Tüfekçıoğlu, Haşmet Hanağası, Georgina Burke, Nicola Foulds, Simon Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A. R. Nicoll, Jeremy Chataway, Nick C. Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden

    Publicado em 2016
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  12. 12
    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia por Alessia Nasca, C. Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Ólafur Þ. Magnússon, Anikó Gál, David T. Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sárközy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, Gyӧrgy Hajnόczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi

    Publicado em 2017
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  13. 13
    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss

    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss por Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sárközy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    Publicado em 2022
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  14. 14
    263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

    263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Net... por Anna Sárközy, Rosaline C. M. Quinlivan, John Bourke, Alessandra Ferlini, Inès Barthélémy, John Bourke, Linda Cripe, Emily Reuben, Teresinha Evangelista, Alessandra Ferlini, Anca Florian, Josh Gribnau, Lídia González-Quereda, Michela Guglieri, Erik H. Niks, Rahul Phadke, Luisa Politano, Rosaline C. M. Quinlivan, Anna Sárközy, John Vissing, Nicol C. Voermans, Elizabeth Vroom, A. Pietrusz, F. Fortunato, Saskia L.S. Houwen

    Publicado em 2023
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  15. 15
    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies por R. Scalco, A. Gardiner, Robert D. S. Pitceathly, David Hilton‐Jones, Anthony H.V. Schapira, Chris Turner, Matt Parton, M. Desikan, Rita Barresi, Julie Marsh, Adnan Y. Manzur, Anne‐Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J. Lamont, Gianina Ravenscroft, William Wallefeld, Mark R. Davis, Nigel G. Laing, Janice L. Holton, Doreen Fialho, Kate Bushby, Michael G. Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Rosaline C. M. Quinlivan

    Publicado em 2016
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  16. 16
    Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

    Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 por Alexander M. Rossor, Emily C. Oates, Hannah K. Salter, Yang Liu, Sinéad M. Murphy, Rebecca Schüle, Michael Gonzalez, Mariacristina Scoto, Rahul Phadke, Caroline A. Sewry, Henry Houlden, Albena Jordanova, Iyailo Tournev, Teodora Chamova, Ivan Litvinenko, Stephan Züchner, David N. Herrmann, Julian Blake, Janet E. Sowden, Gyuda Acsadi, Michael Rodriguez, Manoj P. Menezes, Nigel F. Clarke, Michaela Auer Grumbach, Simon L. Bullock, Francesco Muntoni, Mary M. Reilly, Kathryn N. North

    Publicado em 2014
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  17. 17
    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants

    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants por Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer Friedman, Stephen R. Braddock, Sarah Neuhaus, Denise Malicki, Matthew N. Bainbridge, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Timothy Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

    Publicado em 2025
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  18. 18
    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

    <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility por Irina Zaharieva, Anna Sárközy, Pinki Munot, Adnan Manzur, Gina O’Grady, John Rendu, E. Malfatti, Helge Amthor, Laurent Servais, Jon Andoni Urtizberea, Osório Lopes Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A. Reghan Foley, Chris Holmes, Glyn D. Williams, Muriel Holder, Sabrina W. Yum, Līvija Medne, Susana Quijano‐Roy, Norma B. Romero, Julien Fauré, Lucy Feng, Lailá Bastaki, Mark R. Davis, Rahul Phadke, Caroline A. Sewry, Carsten G. Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, Francesco Muntoni

    Publicado em 2018
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  19. 19
    Novel mutations expand the clinical spectrum of <i>DYNC1H1</i> -associated spinal muscular atrophy

    Novel mutations expand the clinical spectrum of <i>DYNC1H1</i> -associated spinal muscular atrophy por Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms, Sebahattin Çırak, Mattia Calissano, S. Robb, Adnan Y. Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, I Hadjikoumi, Andrea Klein, Michele Yang, Marjolein Visser, W. C. G. Overweg‐Plandsoen, Frank Baas, J. Paul Taylor, Michael Benatar, Anne M. Connolly, Muhammad Al‐Lozi, John Nixon, Christian de Goede, A. Reghan Foley, Catherine McWilliam, Matthew Pitt, Caroline A. Sewry, Rahul Phadke, Majid Hafezparast, W.K. Chong, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Francesco Muntoni

    Publicado em 2015
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  20. 20
    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling por Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan

    Publicado em 2013
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