What does phenotype have to do with it?

por Pulst, Stefan M.
Publicado 2017

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

por Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Publicado 2017

Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease

por Vardarajan, Badri N., Tosto, Giuseppe, Lefort, Roger, Yu, Lei, Bennett, David A., De Jager, Philip L., Barral, Sandra, Reyes-Dumeyer, Dolly, Nagy, Peter L., Lee, Joseph H., Cheng, Rong, Medrano, Martin, Lantigua, Rafael, Rogaeva, Ekaterina, St George-Hyslop, Peter, Mayeux, Richard
Publicado 2017

Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study

por Giese, Anne-Katrin, Schirmer, Markus D., Donahue, Kathleen L., Cloonan, Lisa, Irie, Robert, Winzeck, Stefan, Bouts, Mark J.R.J., McIntosh, Elissa C., Mocking, Steven J., Dalca, Adrian V., Sridharan, Ramesh, Xu, Huichun, Frid, Petrea, Giralt-Steinhauer, Eva, Holmegaard, Lukas, Roquer, Jaume, Wasselius, Johan, Cole, John W., McArdle, Patrick F., Broderick, Joseph P., Jimenez-Conde, Jordi, Jern, Christina, Kissela, Brett M., Kleindorfer, Dawn O., Lemmens, Robin, Lindgren, Arne, Meschia, James F., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Thijs, Vincent, Woo, Daniel, Worrall, Bradford B., Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Golland, Polina, Wu, Ona, Rost, Natalia S.
Publicado 2017

Ataxia-pancytopenia syndrome with SAMD9L mutations

por Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas
Publicado 2017

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

por Ishiyama, Akihiko, Sakai, Chika, Matsushima, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Endo, Yukari, Hayashi, Yukiko K., Saito, Yoshiaki, Nakagawa, Eiji, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Sato, Noriko, Nonaka, Ikuya, Goto, Yu-ichi, Nishino, Ichizo
Publicado 2017

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

por Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
Publicado 2017

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations

por Lynch, David S., Loh, Samantha H.Y., Harley, Jasmine, Noyce, Alastair J., Martins, L. Miguel, Wood, Nicholas W., Houlden, Henry, Plun-Favreau, Helene
Publicado 2017

Children with 5′-end NF1 gene mutations are more likely to have glioma

por Anastasaki, Corina, Morris, Stephanie M., Gao, Feng, Gutmann, David H.
Publicado 2017

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome

por Dad, Rubina, Walker, Susan, Scherer, Stephen W., Hassan, Muhammad Jawad, Kang, Suk Yun, Minassian, Berge A.
Publicado 2017

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus

por Barrett, Matthew J., Williams, Eli S., Chambers, Chelsea, Dhamija, Radhika
Publicado 2017

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion

por Farhan, Sali M.K., Gendron, Tania F., Petrucelli, Leonard, Hegele, Robert A., Strong, Michael J.
Publicado 2017

Moderate blast exposure alters gene expression and levels of amyloid precursor protein

por Gill, Jessica, Cashion, Ann, Osier, Nicole, Arcurio, Lindsay, Motamedi, Vida, Dell, Kristine C., Carr, Walter, Kim, Hyung-Suk, Yun, Sijung, Walker, Peter, Ahlers, Stephen, LoPresti, Matthew, Yarnell, Angela
Publicado 2017

Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier

por Wiener, Emmanuel, Martin, Peter, Mehta, Sarju, Markus, Hugh Stephen
Publicado 2017

Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities

por Beecham, Ashley, Dong, Chuanhui, Wright, Clinton B., Dueker, Nicole, Brickman, Adam M., Wang, Liyong, DeCarli, Charles, Blanton, Susan H., Rundek, Tatjana, Mayeux, Richard, Sacco, Ralph L.
Publicado 2017

Nocebo and pain: an overview of the psychoneurobiological mechanisms

por Blasini, Maxie, Corsi, Nicole, Klinger, Regine, Colloca, Luana
Publicado 2017

Checklist for the preparation and review of pain clinical trial publications: a pain-specific supplement to CONSORT

por Gewandter, Jennifer S., Eisenach, James C., Gross, Robert A., Jensen, Mark P., Keefe, Francis J., Lee, David A., Turk, Dennis C.
Publicado 2018

Nocebo effects in clinical studies: hints for pain therapy

por Klinger, Regine, Blasini, Maxie, Schmitz, Julia, Colloca, Luana
Publicado 2017

Genomic links between blast exposure, brain injury, and Alzheimer disease

por Conley, Yvette P., Diaz-Arrastia, Ramon
Publicado 2017

Age-dependent plasticity in endocannabinoid modulation of pain processing through postnatal development

por Kwok, Charlie H-T., Devonshire, Ian M., Imraish, Amer, Greenspon, Charles M., Lockwood, Stevie, Fielden, Catherine, Cooper, Andrew, Woodhams, Stephen, Sarmad, Sarir, Ortori, Catherine A., Barrett, David A., Kendall, David, Bennett, Andrew J., Chapman, Victoria, Hathway, Gareth J.
Publicado 2017