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Cachexia, chorea, and pain in chronic nonbacterial osteitis and inflammatory bowel disease: a case report
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Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias
Waugh, Jeff L, Kuster, John K, Levenstein, Jacob M, Makris, Nikos, Multhaupt-Buell, Trisha J, Sudarsky, Lewis R, Breiter, Hans C, Sharma, Nutan, Blood, Anne J
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Functional Neurological Symptom Disorders in a Pediatric Emergency Room: Diagnostic Accuracy, Features, and Outcome
de Gusmão, Claudio M., MD, Guerriero, Réjean M., DO, Bernson-Leung, Miya Elizabeth, MD, Pier, Danielle, MD, Ibeziako, Patricia I., MD, Bujoreanu, Simona, PhD, Maski, Kiran P., MD, Urion, David K., MD, Waugh, Jeff L., MD, PhD
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White Matter Changes in Cervical Dystonia Relate to Clinical Effectiveness of Botulinum Toxin Treatment
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Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
Dy, Marisela E., MD, Waugh, Jeff L., MD, PhD, Sharma, Nutan, MD, PhD, O’Leary, Heather, Kapur, Kush, PhD, D’Gama, Alissa M., PhD, Sahin, Mustafa, MD, PhD, Urion, David K., MD, Kaufmann, Walter E., MD, PhD
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Increased Pediatric Functional Neurological Symptom Disorders After the Boston Marathon Bombings: A Case Series
Guerriero, Réjean M., DO, Pier, Danielle B., MD, de Gusmão, Claudio M., MD, Bernson-Leung, Miya E., MD, Maski, Kiran P., MD, Urion, David K., MD, Waugh, Jeff L., MD, PhD
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Increased insula-putamen connectivity in X-linked dystonia-parkinsonism
Blood, Anne J., Waugh, Jeff L., Münte, Thomas F., Heldmann, Marcus, Domingo, Aloysius, Klein, Christine, Breiter, Hans C., Lee, Lillian V., Rosales, Raymond L., Brüggemann, Norbert
Published in NeuroImage clinical (01.01.2018)
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.
Published in Nature genetics (01.10.2020)
Published in Nature genetics (01.10.2020)
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Mercier, Sandra
Published in American journal of human genetics (02.11.2017)
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A network imaging biomarker of X-linked dystonia-parkinsonism
Niethammer, Martin, Tang, Chris C, Jamora, Roland Dominic G, Vo, An, Nguyen, Nha, Ma, Yilong, Peng, Shichun, Waugh, Jeff L, Westenberger, Ana, Eidelberg, David
Published in Annals of neurology (01.10.2023)
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer
Published in Brain (London, England : 1878) (01.11.2020)
Published in Brain (London, England : 1878) (01.11.2020)
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