Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

por Hardy, Steven A., Blakely, Emma L., Purvis, Andrew I., Rocha, Mariana C., Ahmed, Syeda, Falkous, Gavin, Poulton, Joanna, Rose, Michael R., O'Mahony, Olivia, Bermingham, Niamh, Dougan, Charlotte F., Ng, Yi Shiau, Horvath, Rita, Turnbull, Doug M., Gorman, Grainne S., Taylor, Robert W.
Publicado 2016

Rare disease clinical trials: Power in numbers

por Wicklund, Matthew P.
Publicado 2016

A new dawn for genetic association studies in multiple sclerosis

por Kantarci, Orhun H.
Publicado 2016

Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies

por George, Michaela F., Briggs, Farren B.S., Shao, Xiaorong, Gianfrancesco, Milena A., Kockum, Ingrid, Harbo, Hanne F., Celius, Elisabeth G., Bos, Steffan D., Hedström, Anna, Shen, Ling, Bernstein, Allan, Alfredsson, Lars, Hillert, Jan, Olsson, Tomas, Patsopoulos, Nikolaos A., De Jager, Philip L., Oturai, Annette B., Søndergaard, Helle B., Sellebjerg, Finn, Sorensen, Per S., Gomez, Refujia, Caillier, Stacy J., Cree, Bruce A.C., Oksenberg, Jorge R., Hauser, Stephen L., D'Alfonso, Sandra, Leone, Maurizio A., Boneschi, Filippo Martinelli, Sorosina, Melissa, van der Mei, Ingrid, Taylor, Bruce V., Zhou, Yuan, Schaefer, Catherine, Barcellos, Lisa F.
Publicado 2016

Efficacy of mirtazapine for the treatment of fibromyalgia without concomitant depression: a randomized, double-blind, placebo-controlled phase IIa study in Japan

por Miki, Kenji, Murakami, Masato, Oka, Hiroshi, Onozawa, Kaname, Yoshida, Sadahiro, Osada, Kenichi
Publicado 2016

Nonpainful wide-area compression inhibits experimental pain

por Honigman, Liat, Bar-Bachar, Ofrit, Yarnitsky, David, Sprecher, Elliot, Granovsky, Yelena
Publicado 2016

Pharmacologic attenuation of cross-modal sensory augmentation within the chronic pain insula

por Harte, Steven E., Ichesco, Eric, Hampson, Johnson P., Peltier, Scott J., Schmidt-Wilcke, Tobias, Clauw, Daniel J., Harris, Richard E.
Publicado 2016

Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome

por Veerapandiyan, Aravindhan, Chaudhari, Amit, Traba, Christin M., Ming, Xue
Publicado 2016

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A

por Lynch, David S., Wood, Nicholas W., Houlden, Henry
Publicado 2016

MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)

por Depondt, Chantal, Donatello, Simona, Rai, Myriam, Wang, François Charles, Manto, Mario, Simonis, Nicolas, Pandolfo, Massimo
Publicado 2016

Pub-Med-dot-com, here we come!

por Pulst, Stefan M.
Publicado 2016

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

por Harris, Elizabeth, Bladen, Catherine L., Mayhew, Anna, James, Meredith, Bettinson, Karen, Moore, Ursula, Smith, Fiona E., Rufibach, Laura, Cnaan, Avital, Bharucha-Goebel, Diana X., Blamire, Andrew M., Bravver, Elena, Carlier, Pierre G., Day, John W., Díaz-Manera, Jordi, Eagle, Michelle, Grieben, Ulrike, Harms, Matthew, Jones, Kristi J., Lochmüller, Hanns, Mendell, Jerry R., Mori-Yoshimura, Madoka, Paradas, Carmen, Pegoraro, Elena, Pestronk, Alan, Salort-Campana, Emmanuelle, Schreiber-Katz, Olivia, Semplicini, Claudio, Spuler, Simone, Stojkovic, Tanya, Straub, Volker, Takeda, Shin'ich, Rocha, Carolina Tesi, Walter, M.C., Bushby, Kate
Publicado 2016

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

por 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.
Publicado 2016

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

por Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Publicado 2016

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

por Mallett, Victoria, Ross, Jay P., Alcalay, Roy N., Ambalavanan, Amirthagowri, Sidransky, Ellen, Dion, Patrick A., Rouleau, Guy A., Gan-Or, Ziv
Publicado 2016

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

por Engel, Andrew G., Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C. Michel
Publicado 2016

Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk

por Rhead, Brooke, Bäärnhielm, Maria, Gianfrancesco, Milena, Mok, Amanda, Shao, Xiaorong, Quach, Hong, Shen, Ling, Schaefer, Catherine, Link, Jenny, Gyllenberg, Alexandra, Hedström, Anna Karin, Olsson, Tomas, Hillert, Jan, Kockum, Ingrid, Glymour, M. Maria, Alfredsson, Lars, Barcellos, Lisa F.
Publicado 2016

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

por Steinrücke, Sofia, Lohmann, Katja, Domingo, Aloysius, Rolfs, Arndt, Bäumer, Tobias, Spiegler, Juliane, Hartmann, Corinna, Münchau, Alexander
Publicado 2016

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

por Termglinchan, Thanes, Hisamatsu, Seito, Ohmori, Junko, Suzumura, Hiroshi, Sumitomo, Noriko, Imataka, George, Arisaka, Osamu, Murakami, Nobuyuki, Minami, Narihiro, Akihiko, Ishiyama, Sasaki, Masayuki, Goto, Yuichi, Noguchi, Satoru, Nonaka, Ikuya, Mitsuhashi, Satomi, Nishino, Ichizo
Publicado 2016

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

por van der Zee, Julie, Mariën, Peter, Crols, Roeland, Van Mossevelde, Sara, Dillen, Lubina, Perrone, Federica, Engelborghs, Sebastiaan, Verhoeven, Jo, D'aes, Tine, Ceuterick-De Groote, Chantal, Sieben, Anne, Versijpt, Jan, Cras, Patrick, Martin, Jean-Jacques, Van Broeckhoven, Christine
Publicado 2016