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8 results on '"Menezes, Manoj P"'

1. Reply: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy

Author

Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzales, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., and North, Kathryn N.

Published
2015
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2. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Author

Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzalez, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., and North, Kathryn N.

Published
2015
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3. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Author

Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, and Houlden, Henry

Published
2014
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4. Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Author

Mandarakas, Melissa R, primary, Menezes, Manoj P, additional, Rose, Kristy J, additional, Shy, Rosemary, additional, Eichinger, Kate, additional, Foscan, Maria, additional, Estilow, Timothy, additional, Kennedy, Rachel, additional, Herbert, Karen, additional, Bray, Paula, additional, Refshauge, Kathryn, additional, Ryan, Monique M, additional, Yiu, Eppie M, additional, Farrar, Michelle, additional, Sampaio, Hugo, additional, Moroni, Isabella, additional, Pagliano, Emanuela, additional, Pareyson, Davide, additional, Yum, Sabrina W, additional, Herrmann, David N, additional, Acsadi, Gyula, additional, Shy, Michael E, additional, Burns, Joshua, additional, and Sanmaneechai, Oranee, additional

Published
2019
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5. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Author

Mandarakas, Melissa R, primary, Menezes, Manoj P, additional, Rose, Kristy J, additional, Shy, Rosemary, additional, Eichinger, Kate, additional, Foscan, Maria, additional, Estilow, Timothy, additional, Kennedy, Rachel, additional, Herbert, Karen, additional, Bray, Paula, additional, Refshauge, Kathryn, additional, Ryan, Monique M, additional, Yiu, Eppie M, additional, Farrar, Michelle, additional, Sampaio, Hugo, additional, Moroni, Isabella, additional, Pagliano, Emanuela, additional, Pareyson, Davide, additional, Yum, Sabrina W, additional, Herrmann, David N, additional, Acsadi, Gyula, additional, Shy, Michael E, additional, Burns, Joshua, additional, and Sanmaneechai, Oranee, additional

Published
2018
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6. Reply: The p.Ser107Leu inBICD2is a mutation ‘hot spot’ causing distal spinal muscular atrophy

Author

Rossor, Alexander M., primary, Oates, Emily C., additional, Salter, Hannah K., additional, Liu, Yang, additional, Murphy, Sinead M., additional, Schule, Rebecca, additional, Gonzales, Michael A., additional, Scoto, Mariacristina, additional, Phadke, Rahul, additional, Sewry, Caroline A., additional, Houlden, Henry, additional, Jordanova, Albena, additional, Tournev, Iyailo, additional, Chamova, Teodora, additional, Litvinenko, Ivan, additional, Zuchner, Stephan, additional, Herrmann, David N., additional, Blake, Julian, additional, Sowden, Janet E., additional, Acsadi, Gyuda, additional, Rodriguez, Michael L., additional, Menezes, Manoj P., additional, Clarke, Nigel F., additional, Auer Grumbach, Michaela, additional, Bullock, Simon L., additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, and North, Kathryn N., additional

Published
2015
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7. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Author

Rossor, Alexander M., primary, Oates, Emily C., additional, Salter, Hannah K., additional, Liu, Yang, additional, Murphy, Sinead M., additional, Schule, Rebecca, additional, Gonzalez, Michael A., additional, Scoto, Mariacristina, additional, Phadke, Rahul, additional, Sewry, Caroline A., additional, Houlden, Henry, additional, Jordanova, Albena, additional, Tournev, Iyailo, additional, Chamova, Teodora, additional, Litvinenko, Ivan, additional, Zuchner, Stephan, additional, Herrmann, David N., additional, Blake, Julian, additional, Sowden, Janet E., additional, Acsadi, Gyuda, additional, Rodriguez, Michael L., additional, Menezes, Manoj P., additional, Clarke, Nigel F., additional, Auer Grumbach, Michaela, additional, Bullock, Simon L., additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, and North, Kathryn N., additional

Published
2014
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8. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Author

Foley, A. Reghan, primary, Menezes, Manoj P., additional, Pandraud, Amelie, additional, Gonzalez, Michael A., additional, Al-Odaib, Ahmad, additional, Abrams, Alexander J., additional, Sugano, Kumiko, additional, Yonezawa, Atsushi, additional, Manzur, Adnan Y., additional, Burns, Joshua, additional, Hughes, Imelda, additional, McCullagh, B. Gary, additional, Jungbluth, Heinz, additional, Lim, Ming J., additional, Lin, Jean-Pierre, additional, Megarbane, Andre, additional, Urtizberea, J. Andoni, additional, Shah, Ayaz H., additional, Antony, Jayne, additional, Webster, Richard, additional, Broomfield, Alexander, additional, Ng, Joanne, additional, Mathew, Ann A., additional, O’Byrne, James J., additional, Forman, Eva, additional, Scoto, Mariacristina, additional, Prasad, Manish, additional, O’Brien, Katherine, additional, Olpin, Simon, additional, Oppenheim, Marcus, additional, Hargreaves, Iain, additional, Land, John M., additional, Wang, Min X., additional, Carpenter, Kevin, additional, Horvath, Rita, additional, Straub, Volker, additional, Lek, Monkol, additional, Gold, Wendy, additional, Farrell, Michael O., additional, Brandner, Sebastian, additional, Phadke, Rahul, additional, Matsubara, Kazuo, additional, McGarvey, Michael L., additional, Scherer, Steven S., additional, Baxter, Peter S., additional, King, Mary D., additional, Clayton, Peter, additional, Rahman, Shamima, additional, Reilly, Mary M., additional, Ouvrier, Robert A., additional, Christodoulou, John, additional, Züchner, Stephan, additional, Muntoni, Francesco, additional, and Houlden, Henry, additional

Published
2013
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