Canlyniadau Chwilio - Ortiz-González, Xilma R

Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders? gan Ortiz-González, Xilma R

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Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy gan Tintos-Hernández, Jesus A, Santana, Adrian, Keller, Kierstin N, Ortiz-González, Xilma R

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Focal cortical dysplasia is more common in boys than girls gan Ortiz-González, Xilma R., Poduri, Annapurna, Roberts, Colin M., Sullivan, Joseph E., Marsh, Eric D., Porter, Brenda E.

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Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy gan King, Martin S., Thompson, Kyle, Hopton, Sila, He, Langping, Kunji, Edmund R.S., Taylor, Robert W., Ortiz-Gonzalez, Xilma R.

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NIPBL(+/−) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states gan Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.

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βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy gan Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, Matthew N.

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Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy gan Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha-Goebel, Diana X, Kessler, Sudha K, Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Douglas C, Bönnemann, Carsten G.

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Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature gan Cuddapah, Vishnu Anand, Dubbs, Holly A., Adang, Laura, Kugler, Steven L., McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Ortiz-González, Xilma R., McCormack, Shana, Zackai, Elaine, Licht, Daniel J., Falk, Marni J., Marsh, Eric D.

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup gan Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.

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De novo GABRG2 mutations associated with epileptic encephalopathies gan Shen, Dingding, Hernandez, Ciria C, Shen, Wangzhen, Hu, Ningning, Poduri, Annapurna, Shiedley, Beth, Rotenberg, Alex, Datta, Alexandre N, Leiz, Steffen, Patzer, Steffi, Boor, Rainer, Ramsey, Kerri, Goldberg, Ethan, Helbig, Ingo, Ortiz-Gonzalez, Xilma R, Lemke, Johannes R, Marsh, Eric D, Macdonald, Robert L

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A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity gan Beck, David B., Subramanian, T., Vijayalingam, S., Ezekiel, Uthayashankar R., Donkervoort, Sandra, Yang, Michele L., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Lakhani, Shenela, Segal, Devorah, Au, Margaret, Graham, John M., Verma, Sumit, Waggoner, Darrel, Shinawi, Marwan, Bönnemann, Carsten G., Chung, Wendy K., Chinnadurai, G.

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy gan Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S... gan Gustafson, Margaret A., McCormick, Elizabeth M., Perera, Lalith, Longley, Matthew J., Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C., McCormack, Shana E., Laskin, Benjamin L., Leroy, Bart P., Ortiz-Gonzalez, Xilma R., Ellington, Meredith G., Copeland, William C., Falk, Marni J.

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Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements gan Abdelmoumen, Imane, Jimenez, Sandra, Valencia, Ignacio, Melvin, Joseph, Legido, Agustin, Diaz-Diaz, Mayela M., Griffith, Christopher, Massingham, Lauren J., Yelton, Melissa, Rodríguez-Hernández, Janice, Schnur, Rhonda E., Walsh, Laurence E., Cristancho, Ana G., Bergqvist, Christina A., McWalter, Kirsty, Mathieson, Iain, Belbin, Gillian M., Kenny, Eimear E., Ortiz-Gonzalez, Xilma R., Schneider, Michael C.

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KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients gan Millichap, John J., Park, Kristen L., Tsuchida, Tammy, Ben-Zeev, Bruria, Carmant, Lionel, Flamini, Robert, Joshi, Nishtha, Levisohn, Paul M., Marsh, Eric, Nangia, Srishti, Narayanan, Vinodh, Ortiz-Gonzalez, Xilma R., Patterson, Marc C., Pearl, Phillip L., Porter, Brenda, Ramsey, Keri, McGinnis, Emily L., Taglialatela, Maurizio, Tracy, Molly, Tran, Baouyen, Venkatesan, Charu, Weckhuysen, Sarah, Cooper, Edward C.

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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers gan Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila gan Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder gan Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome gan Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients gan Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

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