Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

por Bugiardini, Enrico, Rossor, Alexander M., Lynch, David S., Swash, Michael, Pittman, Alan M., Blake, Julian C., Hanna, Michael G., Houlden, Henry, Holton, Janice L., Reilly, Mary M., Matthews, Emma
Publicado 2017

Loss-of-function variants of SCN8A in intellectual disability without seizures

por Wagnon, Jacy L., Barker, Bryan S., Ottolini, Matteo, Park, Young, Volkheimer, Alicia, Valdez, Purnima, Swinkels, Marielle E.M., Patel, Manoj K., Meisler, Miriam H.
Publicado 2017

Brainstem phenotype of cathepsin A–related arteriopathy with strokes and leukoencephalopathy

por Hwang, Yun Tae, Lakshmanan, Rahul, Davagnanam, Indran, Thompson, Andrew G.B., Lynch, David S., Houlden, Henry, Bajaj, Nin, Eriksson, Sofia H., Bamiou, Doris-Eva, Warren, Jason D.
Publicado 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

por Bennett, Caitlin A., Petrovski, Slavé, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2017

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma

por Wrzeszczynski, Kazimierz O., Frank, Mayu O., Koyama, Takahiko, Rhrissorrakrai, Kahn, Robine, Nicolas, Utro, Filippo, Emde, Anne-Katrin, Chen, Bo-Juen, Arora, Kanika, Shah, Minita, Vacic, Vladimir, Norel, Raquel, Bilal, Erhan, Bergmann, Ewa A., Moore Vogel, Julia L., Bruce, Jeffrey N., Lassman, Andrew B., Canoll, Peter, Grommes, Christian, Harvey, Steve, Parida, Laxmi, Michelini, Vanessa V., Zody, Michael C., Jobanputra, Vaidehi, Royyuru, Ajay K., Darnell, Robert B.
Publicado 2017

This variant alters protein function, but is it pathogenic?

por Pandolfo, Massimo
Publicado 2017

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

por McNeill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, Ghezzi, Daniele
Publicado 2017

UNC5C variants are associated with cerebral amyloid angiopathy

por Yang, Hyun-Sik, White, Charles C., Chibnik, Lori B., Klein, Hans-Ulrich, Schneider, Julie A., Bennett, David A., De Jager, Philip L.
Publicado 2017

Prevalence of spinocerebellar ataxia 36 in a US population

por Valera, Juliana M., Diaz, Tatyana, Petty, Lauren E., Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J., Gibbs, Richard, Lupski, James R., Geschwind, Daniel H., Perlman, Susan, Below, Jennifer E., Fogel, Brent L.
Publicado 2017

The effect of a lay-led, group-based self-management program for patients with chronic pain: a randomized controlled trial of the Danish version of the Chronic Pain Self-Management...

por Mehlsen, Mimi, Hegaard, Lea, Ørnbøl, Eva, Jensen, Jens Søndergaard, Fink, Per, Frostholm, Lisbeth
Publicado 2017

Stratifying patients with peripheral neuropathic pain based on sensory profiles: algorithm and sample size recommendations

por Vollert, Jan, Maier, Christoph, Attal, Nadine, Bennett, David L.H., Bouhassira, Didier, Enax-Krumova, Elena K., Finnerup, Nanna B., Freynhagen, Rainer, Gierthmühlen, Janne, Haanpää, Maija, Hansson, Per, Hüllemann, Philipp, Jensen, Troels S., Magerl, Walter, Ramirez, Juan D., Rice, Andrew S.C., Schuh-Hofer, Sigrid, Segerdahl, Märta, Serra, Jordi, Shillo, Pallai R., Sindrup, Soeren, Tesfaye, Solomon, Themistocleous, Andreas C., Tölle, Thomas R., Treede, Rolf-Detlef, Baron, Ralf
Publicado 2017

Paclitaxel-induced painful neuropathy is associated with changes in mitochondrial bioenergetics, glycolysis, and an energy deficit in dorsal root ganglia neurons

por Duggett, Natalie A., Griffiths, Lisa A., Flatters, Sarah J.L.
Publicado 2017

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

por Smogavec, Mateja, Zschüntzsch, Jana, Kress, Wolfram, Mohr, Julia, Hellen, Peter, Zoll, Barbara, Pauli, Silke, Schmidt, Jens
Publicado 2017

Updated nomenclature for human and mouse neurofibromatosis type 1 genes

por Anastasaki, Corina, Le, Lu Q., Kesterson, Robert A., Gutmann, David H.
Publicado 2017

Brain calcifications and PCDH12 variants

por Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R., Ferreira, Joana, Moura, Denis, Sobrido, Maria J., Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H., Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W., Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João R.M.
Publicado 2017

Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction

por Nishihara, Hideaki, Omoto, Masatoshi, Takao, Masaki, Higuchi, Yujiro, Koga, Michiaki, Kawai, Motoharu, Kawano, Hiroo, Ikeda, Eiji, Takashima, Hiroshi, Kanda, Takashi
Publicado 2017

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

por Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro
Publicado 2017

Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis

por Kuang, Lisha, Kamelgarn, Marisa, Arenas, Alexandra, Gal, Jozsef, Taylor, Deborah, Gong, Weiming, Brown, Martin, St. Clair, Daret, Kasarskis, Edward J., Zhu, Haining
Publicado 2017

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia

por Ng, Yi Shiau, Powell, Helen, Hoggard, Nigel, Turnbull, Doug M., Taylor, Robert W., Hadjivassiliou, Marios
Publicado 2017

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

por Accogli, Andrea, Iacomino, Michele, Pinto, Francesca, Orsini, Alessandro, Vari, Maria Stella, Selmi, Raed, Torella, Annalaura, Nigro, Vincenzo, Minetti, Carlo, Severino, Mariasavina, Striano, Pasquale, Capra, Valeria, Zara, Federico
Publicado 2017