Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

por Tojima, Maya, Murakami, Gaku, Hikawa, Rie, Yamakado, Hodaka, Yamashita, Hirofumi, Takahashi, Ryosuke, Matsui, Masaru
Publicado 2018

Anti-inflammatory effects of dietary vitamin D(3) in patients with multiple sclerosis

por Hashemi, Reza, Morshedi, Mohammad, Asghari Jafarabadi, Mohammad, Altafi, Davar, Saeed Hosseini-Asl, Seyed, Rafie-Arefhosseini, Seyed
Publicado 2018

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype

por Montes-Chinea, Nataly I., Guan, Zhuo, Coutts, Marcella, Vidal, Cecilia, Courel, Steve, Rebelo, Adriana P., Abreu, Lisa, Zuchner, Stephan, Littleton, J. Troy, Saporta, Mario A.
Publicado 2018

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation

por Deeb, Reem, Veerapandiyan, Aravindhan, Tawil, Rabi, Treidler, Simona
Publicado 2018

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

por Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia
Publicado 2018

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

por Hewamadduma, Channa A., Hoggard, Nigel, O'Malley, Ronan, Robinson, Megan K., Beauchamp, Nick J., Segamogaite, Ruta, Martindale, Jo, Rodgers, Tobias, Rao, Ganesh, Sarrigiannis, Ptolemaios, Shanmugarajah, Priya, Zis, Panagiotis, Sharrack, Basil, McDermott, Christopher J., Shaw, Pamela J., Hadjivassiliou, Marios
Publicado 2018

Psychosocial factors associated with persistent pain in people with HIV: a systematic review with meta-analysis

por Scott, Whitney, Arkuter, Chinar, Kioskli, Kitty, Kemp, Harriet, McCracken, Lance M., Rice, Andrew S.C., de C. Williams, Amanda C.
Publicado 2018

Multi-OMICS analyses of frailty and chronic widespread musculoskeletal pain suggest involvement of shared neurological pathways

por Livshits, Gregory, Malkin, Ida, Bowyer, Ruth C.E., Verdi, Serena, Bell, Jordana T., Menni, Cristina, Williams, Frances M.K., Steves, Claire J.
Publicado 2018

Is There a Cardiotoxicity Associated With Metallic Head Hip Prostheses? A Cohort Study in the French National Health Insurance Databases

por Lassalle, Marion, Colas, Sandrine, Rudnichi, Annie, Zureik, Mahmoud, Dray-Spira, Rosemary
Publicado 2018

Mental health and wellbeing during the transition to fatherhood: a systematic review of first time fathers’ experiences

por Baldwin, Sharin, Malone, Mary, Sandall, Jane, Bick, Debra
Publicado 2018

Fine particle sources and cognitive function in an older Puerto Rican cohort in Greater Boston

por Wurth, Renee, Kioumourtzoglou, Marianthi-Anna, Tucker, Katherine L., Griffith, John, Manjourides, Justin, Suh, Helen
Publicado 2018

Risk effects of near-roadway pollutants and asthma status on bronchitic symptoms in children

por Urman, Robert, Eckel, Sandrah, Deng, Huiyu, Berhane, Kiros, Avol, Ed, Lurmann, Fred, McConnell, Rob, Gilliland, Frank
Publicado 2018

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

por Hemelsoet, Dimitri M., Vanlander, Arnaud V., Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy
Publicado 2018

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

por Beecham, Gary W., Vardarajan, Badri, Blue, Elizabeth, Bush, William, Jaworski, James, Barral, Sandra, DeStefano, Anita, Hamilton-Nelson, Kara, Kunkle, Brian, Martin, Eden R., Naj, Adam, Rajabli, Farid, Reitz, Christiane, Thornton, Timothy, van Duijn, Cornelia, Goate, Allison, Seshadri, Sudha, Farrer, Lindsay A., Boerwinkle, Eric, Schellenberg, Gerard, Haines, Jonathan L., Wijsman, Ellen, Mayeux, Richard, Pericak-Vance, Margaret A.
Publicado 2018

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

por Houle, Gabrielle, Ambalavanan, Amirthagowri, Schmouth, Jean-François, Leblond, Claire S., Spiegelman, Dan, Laurent, Sandra B., Bourassa, Cynthia V., Grayson, Celene, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño-Güell, Carles, Rajput, Alex, Girard, Simon L., Dion, Patrick A., Rouleau, Guy A.
Publicado 2017

Amyloid- and tau-PET imaging in a familial prion kindred

por Jones, David T., Townley, Ryan A., Graff-Radford, Jonathan, Botha, Hugo, Knopman, David S., Petersen, Ronald C., Jack, Clifford R., Lowe, Val J., Boeve, Bradley F.
Publicado 2018

Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH

por Korhonen, Ville E., Helisalmi, Seppo, Jokinen, Aleksi, Jokinen, Ilari, Lehtola, Juha-Matti, Oinas, Minna, Lönnrot, Kimmo, Avellan, Cecilia, Kotkansalo, Anna, Frantzen, Janek, Rinne, Jaakko, Ronkainen, Antti, Kauppinen, Mikko, Junkkari, Antti, Hiltunen, Mikko, Soininen, Hilkka, Kurki, Mitja, Jääskeläinen, Juha E., Koivisto, Anne M., Sato, Hidenori, Kato, Takeo, Remes, Anne M., Eide, Per Kristian, Leinonen, Ville
Publicado 2018

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

por Pulit, Sara L., Weng, Lu-Chen, McArdle, Patrick F., Trinquart, Ludovic, Choi, Seung Hoan, Mitchell, Braxton D., Rosand, Jonathan, de Bakker, Paul I. W., Benjamin, Emelia J., Ellinor, Patrick T., Kittner, Steven J., Lubitz, Steven A., Anderson, Christopher D.
Publicado 2018

Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation

por Sim, Nam Suk, Seo, Youngsuk, Lim, Jae Seok, Kim, Woo Kyeong, Son, Hyeonju, Kim, Heung Dong, Kim, Sangwoo, An, Hyun Joo, Kang, Hoon-Chul, Kim, Se Hoon, Kim, Dong-Seok, Lee, Jeong Ho
Publicado 2018

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

por Dorboz, Imen, Dumay-Odelot, Hélene, Boussaid, Karima, Bouyacoub, Yosra, Barreau, Pauline, Samaan, Simon, Jmel, Haifa, Eymard-Pierre, Eleonore, Cances, Claude, Bar, Céline, Poulat, Anne-Lise, Rousselle, Christophe, Renaldo, Florence, Elmaleh- Bergès, Monique, Teichmann, Martin, Boespflug-Tanguy, Odile
Publicado 2018