Search Results - Andreea Manole

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  1. 1
    Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases

    Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases by Tamilarasan Udhayabanu, Andreea Manole, Mohan Rajeshwari, Perumal Varalakshmi, Henry Houlden, Balasubramaniem Ashokkumar

    Published 2017
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  2. 2
    Crossover randomized controlled trial of Bumetanide to rescue an attack of exercise induced hand weakness in Hypokalaemic Periodic Paralysis

    Crossover randomized controlled trial of Bumetanide to rescue an attack of exercise induced hand weakness in Hypokalaemic Periodic Paralysis by R. Scalco, Jasper M. Morrow, Andreea Manole, Iwona Skorupinska, Federico Ricciardi, Emma Matthews, Michael G. Hanna, Doreen Fialho

    Published 2024
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  3. 3
    Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients

    Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients by Idan Rosh, Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Jose Djamus, Boris Shklyar, Andreea Manole, Henry Houlden, Jürgen Winkler, Fred H. Gage, Shani Stern

    Published 2024
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  4. 4
    Upregulated ECM genes and increased synaptic activity in Parkinson’s human DA neurons with PINK1/ PRKN mutations

    Upregulated ECM genes and increased synaptic activity in Parkinson’s human DA neurons with PINK1/ PRKN mutations by Utkarsh Tripathi, Idan Rosh, Ran Ben Ezer, Ritu Nayak, Yara Hussein, Ashwani Choudhary, Jose Djamus, Andreea Manole, Henry Houlden, Fred H. Gage, Shani Stern

    Published 2024
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  5. 5
    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) by 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

    Published 2018
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  6. 6
    <scp>LETM</scp> 1 couples mitochondrial <scp>DNA</scp> metabolism and nutrient preference

    <scp>LETM</scp> 1 couples mitochondrial <scp>DNA</scp> metabolism and nutrient preference by Romina Durigon, Alice Mitchell, Aleck W.E. Jones, Andreea Manole, Mara Mennuni, Elizabeth Hirst, Henry Houlden, Giuseppe Maragni, Serena Lattante, Paolo Niccolò Doronzio, Ilaria Dalla Rosa, Marcella Zollino, Ian Holt, Antonella Spinazzola

    Published 2018
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  7. 7
    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea

    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea by Vincenzo Salpietro, Belén Pérez‐Dueñas, Kosuke Nakashima, Victoria San Antonio‐Arce, Andreea Manole, Stéphanie Efthymiou, Jana Vandrovcová, Conceição Bettencourt, Niccolò E. Mencacci, Christine Klein, Michy P. Kelly, Ceri H. Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden

    Published 2018
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  8. 8
    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function

    A loss-of-function homozygous mutation in <i>DDX59</i> implicates a conserved DEAD-box RNA helicase in nervous system development and function by Vincenzo Salpietro, Stéphanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botía, Mina Ryten, Jana Vandrovcová, Oscar D. Bello, Conceição Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden

    Published 2017
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  9. 9
    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome by Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stéphanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

    Published 2017
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  10. 10
    Mitochondrial impairment and rescue in riboflavin responsive neuropathy

    Mitochondrial impairment and rescue in riboflavin responsive neuropathy by Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Amelie Pandraud, Vincenzo Salpietro, Simon Pope, Marthe H. R. Ludtmann, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    Published 2017
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  11. 11
    Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Genetic and phenotypic characterization of complex hereditary spastic paraplegia by Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceição Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucía Schottlaender, Christos Proukakis, Huw R. Morris, Thomas T. Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew Singleton, John Hardy, Nicholas Wood, Patrick A. Lewis, Henry Houlden

    Published 2016
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  12. 12
    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy by Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar D. Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    Published 2017
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  13. 13
    Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients

    Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson’s disease patients by Shani Stern, Shong Lau, Andreea Manole, Idan Rosh, Menachem Mendel Percia, Ran Ben Ezer, Maxim N. Shokhirev, Fan Qiu, Simon T. Schafer, Abed AlFatah Mansour, Kile P. Mangan, Tchelet Stern, Polina Ofer, Yam Stern, Ana Paula Diniz Mendes, Jose Djamus, Lynne Randolph Moore, Ritu Nayak, Sapir Havusha Laufer, Aidan Aicher, Amanda Rhee, Thomas L. Wong, Thao H. Nguyen, Sara B. Linker, Beate Winner, Beatriz Freitas, Eugenia Jones, Irit Sagi, Cédric Bardy, Alexis Brice, Jürgen Winkler, Maria C. Marchetto, Fred H. Gage

    Published 2022
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  14. 14
    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome by Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon‐Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al‐Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Valentina Stanley, Andreea Manole, Uğur Akpulat, Marjan M. Weiss, Stéphanie Efthymiou, Michael G. Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Lisa Weixler, Peter Nürnberg, Hölger Thiele, Uluç Yiş, Tuncay Derya Okur, Ayşe Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran Beiraghi Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M. van Hagen, Nicole I. Wolf, Reza Maroofian, Henry Houlden, Sebahattin Çırak, Joseph G. Gleeson

    Published 2018
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  15. 15
    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment by Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden

    Published 2019
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  16. 16
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    Published 2019
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  17. 17
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects by Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Published 2020
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