Results 31 to 40 of about 2,944 (151)

Oral Communication abstracts

, 2022
Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley   +1 more source

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019
We report an unusual case of hypertrophic cardiomyopathy identified by combined advanced post resuscitation care and molecular autopsy in a young sudden cardiac death victim. The present study shows the relevance of implementing emergency medicine, forensic and molecular autopsy to unravel the cause of SCD cases.
Anna Gaertner‐Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann‐Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T. Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting   +12 more
wiley   +1 more source

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm [PDF]

, 2008
Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600 ...
Jungbluth, Heinz, Muntoni, Francesco, Treves, Susan, Zorzato, Francesco   +3 more
core   +1 more source

Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion

Behavioural Neurology, Volume 2019, Issue 1, 2019., 2019
Two clinically distinct diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), have recently been classified as two extremes of the FTD/ALS spectrum. The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau‐, TDP‐43‐, and FUS‐immunoreactive neuronal inclusions.
Mirjana Babić Leko, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof, Goran Šimić, Edoardo G. Spinelli   +7 more
wiley   +1 more source

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken [PDF]

, 2015
International ...
Baziel G. M. van Engelen, David Hilton-Jones, Marco Sandri, Olivier Benveniste, Olivier Boyer, Werner Stenzel   +5 more
core   +3 more sources

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Case Reports in Neurological Medicine, Volume 2016, Issue 1, 2016., 2016
Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene.
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan, Mathias Toft   +8 more
wiley   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration [PDF]

, 2014
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort
Alexopoulos, Panagiotis, Almeida, Maria Rosário, Archetti, Silvana, Bagnoli, Silvia, Benussi, Luisa, Binetti, Giuliano, Boada, Mercè, Bonvicini, Cristian, Borroni, Barbara, Chiang, Huei-Hsin, Clarimón, Jordi, Cras, Patrick, Cruts, Marc, De Deyn, Peter Paul, De Jonghe, Peter, De Mendonça, Alexandre, Dermaut, Bart, Deschamps, William, Diehl-Schmid, Janine, Dillen, Lubina, Dols Icardo, Oriol, Engelborghs, Sebastiaan, Fabrizi, Gian Maria, Frisoni, Giovanni B., Gelpi, Ellen, Ghidoni, Roberta, Graff, Caroline, Haack, Tobias B., Heneka, Michael, Hernández, Isabel, Jessen, Frank, Jordanova, Albena, Kovacs, Gabor G., Laureys, Annelies, Llado Plarrumani, Albert, Lleó, Alberto, Maetzler, Walter, Martin, Jean-Jacques, Matej, Radoslav, Mattheijssens, Maria, Merlin, Celine, Miltenberger-Miltényi, Gabriel, Nacmias, Benedetta, Ortega-Cubero, Sara, Padovani, Alessandro, Parobkova, Eva, Pastor, Pau, Peeters, Karin, Perneczky, Robert, Prokisch, Holger, Ramirez, Alfredo, Razquin, Cristina, Robberecht, Wim, Ruiz Laza, Agustín, Salmon, Eric, Sanchez-Valle, Raquel, Santana, Isabel, Santens, Patrick, Santiago, Beatriz, Sarafov, Stayko, Schöls, Ludger, Sieben, Anne, Simões do Couto, Frederico, Sleegers, Kristel, Smets, Katrien, Sorbi, Sandro, Strom, Tim M., Ströbel, Thomas, Synofzik, Matthis, Testi, Silvia, Thonberg, Hakan, Tournev, Ivailo, Universitat Autònoma de Barcelona. Departament de Medicina, Van Broeckhoven, Christine, Van Damme, Philip, Van Den Broeck, Marleen, Van der Zee, Julie, Van Langenhove, Tim, Vandenberghe, Rik, Vandenbulcke, Mathieu, Vom Hagen, Jennifer Müller   +80 more
core   +4 more sources

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

The consequences of nuclear transfer for mammalian foetal development and offspring survival : a mitochondrial DNA perspective [PDF]

, 2004
Review of the articleThe introduction of nuclear transfer (NT) and other technologies that involve embryo reconstruction require us to reinvestigate patterns of mitochondrial DNA (mtDNA) transmission, transcription and replication.
Anderson, Barrientos, Barrientos, Barritt, Barritt, Birky, Birky, Blok, Boiani, Bortvin, Boulet, Brenner, Campbell, Cibelli, Clark, Clayton, Cohen, Cormier, Cummins, Davis, Do, Dunbar, Evans, Fisher, Gaertig, Gahan, Giles, Goto, Gyllensten, Hauswirth, Hayakawa, Hiendleder, Hoeh, Holt, Howell, Hsieh, Huo, Inoue, Jansen, Jenuth, Kaneda, Kaukonen, King, King, Laipis, Larsson, Larsson, Lazzari, Magnusson, Maher, Mandel, Marchington, Michaels, Moraes, Moyes, Pik  , Poulton, Poulton, Reik, Reynier, Saada, Schon, Schutz, Schwartz, Shi, Shitara, Shoffner, Smith, St. John, Steinborn, Steinborn, Sutovsky, Takeda, Takeda, Torroni, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Zhang   +80 more
core   +1 more source