Results 61 to 70 of about 2,944 (151)

UEG Week 2016 Poster Presentations

, 2016
United European Gastroenterology Journal, Volume 4, Issue S5, Page A157-A720, October 2016.
wiley   +1 more source

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome [PDF]

, 2017
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene,
Baudis, Michael, Bauer, Peter, Benedicenti, Francesco, Bornemann, Antje, Claeys, Kristl G., de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Inzana, Francesca, Kingston, Helen, Kirschner, Janbernd, Krieger, Michael, Lia Taratuto, Ana, Medne, Livija, Muschke, Petra, Pirra, Laura, Rivier, François, Roos, Andreas, Rudnik-Schöneborn, Sabine, Senderek, Jan, Sonmez, Fatma Mujgan, Spengler, Sabrina, Stanzial, Franco, Stendel, Claudia, Synofzik, Matthis, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Weis, Joachim, Williams, Denise, Zerres, Klaus   +33 more
core  

Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy [PDF]

, 2016
BACKGROUND: Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches remain elusive.
Carsten Lundby, Christina M. Spengler, Hans H. Jung, Jens A. Petersen, Maria Ligon-Auer, Sandro Manuel Mueller, Saskia Maria Gehrig, Sebastian Frese, Violeta Mihaylova   +8 more
core   +1 more source

UEG Week 2015 Poster Presentations

, 2015
United European Gastroenterology Journal, Volume 3, Issue S5, Page 146-687, October 2015.
wiley   +1 more source

Multi-minicore Disease [PDF]

, 2007
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth, AG Engel, C Wallgren-Pettersson, MI Hughes, N Darin, Y Zhang, H Jungbluth, H Jungbluth, A Ferreiro, A Shuaib, H Bonnette, AM Magliocco, AZJ Zeman, A Ferreiro, RB Fitzsimons, KP Rimmer, PW Rowe, H Jungbluth, M Swash, GK van Wijngaarden, PH Gordon, H Jungbluth, N Monnier, A Ferreiro, H Jungbluth, H Jungbluth, E Mercuri, MA Denborough, BM Koch, H Osada, V Barone, S Guis, J Bethlem, AN Bender, AKW Brownell, JA Vanneste, L Paljaervi, T Yoshida, B Moghadaszadeh, RC McKenzie, N Petit, M Deniziak, H Zhou, NB Romero, MS Phillips, G Meissner, T Wagenknecht, S Treves, S Wu, J Tong, RT Dirksen, S Ducreux, H Zhou, F Zorzato, V Dubowitz, CA Sewry, S Jongpiputvanich, CA Sewry, CG Bonnemann, M Herasse, H Jungbluth, P Nurenberg, JF Pellissier, I Tein, M Ohkubo, AE Chudley, YS Lee, N Hulsmann, JM Vallat, C Thomas, PC Scacheri, N Monnier, H Jungbluth, AM Kaindl, V Carmignac, E Bertini, SL Maidment, MAAP Willemsen, UJM Hagberg, C Wallgren-Pettersson, MA Denborough, S Messina   +81 more
core   +1 more source

UEG Week 2014 Poster Presentations

, 2014
United European Gastroenterology Journal, Volume 2, Issue S1, Page A132-A605, October 2014.
wiley   +1 more source

Sporadic inclusion body myositis : an acquired mitochondrial disease with extras [PDF]

, 2019
The sporadic form of inclusion body myositis (IBM) is the most common late-onset myopathy. Its complex pathogenesis includes degenerative, inflammatory and mitochondrial aspects.
De Paepe, Boel
core   +1 more source

Abstracts

Cancer Science, Volume 115, Issue S1, Page 1-2243, March 2024.
wiley   +1 more source

UEG Week 2013 Poster Presentations

, 2013
United European Gastroenterology Journal, Volume 1, Issue S1, Page A135-A587, October 2013.
wiley   +1 more source