Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

por Witting, Nanna, Werlauff, Ulla, Duno, Morten, Vissing, John
Publicado 2017

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

por Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo
Publicado 2017

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

por Hengel, Holger, Magee, Alex, Mahanjah, Muhammad, Vallat, Jean-Michel, Ouvrier, Robert, Abu-Rashid, Mohammad, Mahamid, Jamal, Schüle, Rebecca, Schulze, Martin, Krägeloh-Mann, Ingeborg, Bauer, Peter, Züchner, Stephan, Sharkia, Rajech, Schöls, Ludger
Publicado 2017

Use of Nanocrystalline Hydroxyapatite With Autologous BMA and Local Bone in the Lumbar Spine: A Retrospective CT Analysis of Posterolateral Fusion Results

por Robbins, Stephen, Lauryssen, Carl, Songer, Matthew N.
Publicado 2017

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation

por Jaffer, Fatima, Fawcett, Katherine, Sims, David, Heger, Andreas, Houlden, Henry, Hanna, Michael G., Kingston, Helen, Sisodiya, Sanjay M.
Publicado 2017

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

por Reimann, Jens, Lehmann, Diana, Hardy, Steven A., Falkous, Gavin, Knowles, Charlotte V.Y., Jones, Rachel L., Kunz, Wolfram S., Taylor, Robert W., Kornblum, Cornelia
Publicado 2017

SCA8 should not be tested in isolation for ataxia

por Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Publicado 2017

Neuron-restrictive silencer factor–mediated downregulation of μ-opioid receptor contributes to the reduced morphine analgesia in bone cancer pain

por Zhu, Chao, Tang, Jun, Ding, Tan, Chen, Lei, Wang, Wei, Mei, Xiao-Peng, He, Xiao-Tao, Wang, Wen, Zhang, Li-Dong, Dong, Yu-Lin, Luo, Zhuo-Jing
Publicado 2017

Burning pain: axonal dysfunction in erythromelalgia

por Farrar, Michelle A., Lee, Ming-Jen, Howells, James, Andrews, Peter I., Lin, Cindy S.-Y.
Publicado 2017

Primidone inhibits TRPM3 and attenuates thermal nociception in vivo

por Krügel, Ute, Straub, Isabelle, Beckmann, Holger, Schaefer, Michael
Publicado 2017

Spinal cord interneurons expressing the gastrin-releasing peptide receptor convey itch through VGLUT2-mediated signaling

por Aresh, Bejan, Freitag, Fabio B., Perry, Sharn, Blümel, Edda, Lau, Joey, Franck, Marina C.M., Lagerström, Malin C.
Publicado 2017

Does expecting more pain make it more intense? Factors associated with the first week pain trajectories after breast cancer surgery

por Sipilä, Reetta M., Haasio, Lassi, Meretoja, Tuomo J., Ripatti, Samuli, Estlander, Ann-Mari, Kalso, Eija A.
Publicado 2017

A novel inhibitor of active protein kinase G attenuates chronic inflammatory and osteoarthritic pain

por Sung, Ying-Ju, Sofoluke, Nelson, Nkamany, Mary, Deng, Shixian, Xie, Yuli, Greenwood, Jeremy, Farid, Ramy, Landry, Donald W., Ambron, Richard T.
Publicado 2017

African American exome sequencing identifies potential risk variants at Alzheimer disease loci

por N'Songo, Aurelie, Carrasquillo, Minerva M., Wang, Xue, Burgess, Jeremy D., Nguyen, Thuy, Asmann, Yan W., Serie, Daniel J., Younkin, Steven G., Allen, Mariet, Pedraza, Otto, Duara, Ranjan, Greig Custo, Maria T., Graff-Radford, Neill R., Ertekin-Taner, Nilüfer
Publicado 2017

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

por Bugiardini, Enrico, Poole, Olivia V., Manole, Andreea, Pittman, Alan M., Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Holton, Janice L., Taanman, Jan-Willem, Plant, Gordon T., Poulton, Joanna, Zeviani, Massimo, Ghezzi, Daniele, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A., Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J., Houlden, Henry, Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2017

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

por Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns
Publicado 2017

Biallelic TOR1A variants in an infant with severe arthrogryposis

por Reichert, Sara Chadwick, Gonzalez-Alegre, Pedro, Scharer, Gunter H.
Publicado 2017

Identifying brain nociceptive information transmission in patients with chronic somatic pain

por Davis, Don A., Ghantous, Mariam E., Farmer, Melissa A., Baria, Alexis T., Apkarian, A. Vania
Publicado 2016

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

por Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.
Publicado 2017

Pharmacoepidemiologic analyses of opioid use among OEF/OIF/OND veterans

por Hudson, Teresa J., Painter, Jacob T., Martin, Bradley C., Austen, Mark A., Williams, James S., Fortney, John C., Sullivan, Mark D., Edlund, Mark J.
Publicado 2017