Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Correction: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (2017)
Published in Nature genetics (2017)
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Journal Article