Measuring Diet Intake and Gastrointestinal Symptoms in Irritable Bowel Syndrome: Validation of the Food and Symptom Times Diary

por Wright-McNaughton, Morag, ten Bokkel Huinink, Sebastiaan, Frampton, Christopher M.A., McCombie, Andrew M., Talley, Nicholas J., Skidmore, Paula M.L., Gearry, Richard B.
Publicado 2019

Three Cases of Alcohol-Induced Acute-On-Chronic Liver Failure With Successful Support by Adipose-Derived Stem Cells

por Götze, Tobias, Krueger, Michael, Meutsch, Juliane, Dörfel, Max, Born, Stephan, Sowa, Jan-Peter, Canbay, Ali
Publicado 2019

Sex Differences in the Association Between Frailty and Sarcopenia in Patients With Cirrhosis

por Fozouni, Laila, Wang, Connie W., Lai, Jennifer C.
Publicado 2019

Pain in persons who are marginalized by social conditions

por Craig, Kenneth D., Holmes, Cindy, Hudspith, Maria, Moor, Gregg, Moosa-Mitha, Mehmoona, Varcoe, Colleen, Wallace, Bruce
Publicado 2020

A randomized controlled trial of 5 daily sessions and continuous trial of 4 weekly sessions of repetitive transcranial magnetic stimulation for neuropathic pain

por Hosomi, Koichi, Sugiyama, Kenji, Nakamura, Yusaku, Shimokawa, Toshio, Oshino, Satoru, Goto, Yuko, Mano, Tomoo, Shimizu, Takeshi, Yanagisawa, Takufumi, Saitoh, Youichi
Publicado 2020

Experimentally induced spinal nociceptive sensitization increases with migraine frequency: a single-blind controlled study

por De Icco, Roberto, Perrotta, Armando, Grillo, Valentina, Cosentino, Giuseppe, Sances, Grazia, Sandrini, Giorgio, Tassorelli, Cristina
Publicado 2020

Splitting vs lumping: Does the phenotype matter anymore?

por Pavlakis, Steven
Publicado 2020

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

por Hedberg-Oldfors, Carola, Macao, Bertil, Basu, Swaraj, Lindberg, Christopher, Peter, Bradley, Erdinc, Direnis, Uhler, Jay P., Larsson, Erik, Falkenberg, Maria, Oldfors, Anders
Publicado 2020

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

por Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Publicado 2020

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis

por Keith, Julia L., Swinkin, Emily, Gao, Andrew, Alminawi, Samira, Zhang, Ming, McGoldrick, Philip, McKeever, Paul, Robertson, Janice, Rogaeva, Ekaterina, Zinman, Lorne
Publicado 2020

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

por Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas
Publicado 2020

HSAN-VI: A spectrum disorder based on dystonin isoform expression

por Lynch-Godrei, Anisha, Kothary, Rashmi
Publicado 2020

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

por Wadman, Renske I., Jansen, Marc D., Curial, Chantall A.D., Groen, Ewout J.N., Stam, Marloes, Wijngaarde, Camiel A., Medic, Jelena, Sodaar, Peter, van Eijk, Kristel R., Huibers, Manon M.H., van Kuik, Joyce, Lemmink, Henny H., van Rheenen, Wouter, Veldink, Jan Herman, van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2019

Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia

por Matsuda, Yukiko, Morino, Hiroyuki, Miyamoto, Ryosuke, Kurashige, Takashi, Kume, Kodai, Mizuno, Noriyoshi, Kanaya, Yuhei, Tada, Yui, Ohsawa, Ryosuke, Yokota, Kazunori, Shimozawa, Nobuyuki, Maruyama, Hirofumi, Kawakami, Hideshi
Publicado 2020

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

por Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
Publicado 2020

Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort

por Roggenbuck, Jennifer, Palettas, Marilly, Vicini, Leah, Patel, Radha, Quick, Adam, Kolb, Stephen J.
Publicado 2020

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

por Rudakou, Uladzislau, Ruskey, Jennifer A., Krohn, Lynne, Laurent, Sandra B., Spiegelman, Dan, Greenbaum, Lior, Yahalom, Gilad, Desautels, Alex, Montplaisir, Jacques Y., Fahn, Stanley, Waters, Cheryl H., Levy, Oren, Kehoe, Caitlin M., Narayan, Sushma, Dauvilliers, Yves, Dupré, Nicolas, Hassin-Baer, Sharon, Alcalay, Roy N., Rouleau, Guy A., Fon, Edward A., Gan-Or, Ziv
Publicado 2020

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

por Bugiardini, Enrico, Bottani, Emanuela, Marchet, Silvia, Poole, Olivia V., Beninca, Cristiane, Horga, Alejandro, Woodward, Cathy, Lam, Amanda, Hargreaves, Iain, Chalasani, Annapurna, Valerio, Alessandra, Lamantea, Eleonora, Venner, Kerrie, Holton, Janice L., Zeviani, Massimo, Houlden, Henry, Quinlivan, Rosaline, Lamperti, Costanza, Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2020

Cemented or Uncemented Hemiarthroplasty for Femoral Neck Fracture? Data from the Norwegian Hip Fracture Register

por Kristensen, Torbjørn B, Dybvik, Eva, Kristoffersen, Målfrid, Dale, Håvard, Engesæter, Lars Birger, Furnes, Ove, Gjertsen, Jan-Erik
Publicado 2020

Does Kyphectomy Improve the Quality of Life of Patients With Myelomeningocele?

por Petersen, Pedro Araujo, Marcon, Raphael Martus, Letaif, Olavo Biraghi, Mello Santos, Marcus Alexandre, Oliveira, Rafael Garcia, Passos de Barros Filho, Tarcísio Eloy, Cristante, Alexandre Fogaça
Publicado 2020