Results 91 to 100 of about 26,826 (219)

Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report [PDF]

, 2013
BACKGROUND: It is well known that myotonic dystrophy type 1 (DM1) - Curschmann-Steinert disease - is associated with white matter lesions in the brain. Further, DM1 patients may suffer from cardiac involvement and cardioembolic strokes.
Jens D Rollnik, Olaf Lenz, Ute Heinz
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Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Myotonic Dystrophy Initially Presenting as Tachycardiomyopathy Successful Catheter Ablation of Atrial Flutter

Cardiology Research and Practice, 2010
Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias.
S. Asbach, K. J. Gutleben, P. Dahlem, J. Brachmann, G. Nölker   +4 more
doaj   +1 more source

A trigger-happy soldier with bilateral ptosis and dysphagia

Biomedical Journal, 2015
Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj   +1 more source

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]

, 2014
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M, Clayton, EL, Cleverley, K, Devoy, A, Dols, J, Fisher, EMC, Fratta, P, Grönke, S, Hendrich, O, Isaacs, AM, Mizielinska, S, Moens, T, Niccoli, T, Nicoll, AJ, Norona, FE, Partridge, L, Pickering-Brown, S, Pietrzyk, J, Ridler, CE, Woollacott, IOC   +19 more
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Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Super‐Response to Guselkumab Treatment in Patients With Moderate‐to‐Severe Psoriasis: Real‐World Data With Up to Five Years of Follow‐Up in The Czech Republic

International Journal of Dermatology, Volume 65, Issue 5, Page 980-990, May 2026.
Super‐response to Guselkumab. ABSTRACT Background Guselkumab, a selective interleukin (IL)‐23 inhibitor, is approved for the treatment of moderate‐to‐severe plaque psoriasis. While randomized clinical trials have introduced the concept of “super‐responders” (SRe)—patients achieving complete skin clearance (Psoriasis Area and Severity Index [PASI] 100 ...
Martina Kojanova, Daniela Pejrilova, Jorga Fialova, Petra Cetkovska, Spyridon Gkalpakiotis, Alena Machovcova, Petr Arenberger, Jiri Stork, Tomas Dolezal, Martin Tichy, the BIOREP study group, Zdenek Antal, Monika Balaz, Jirina Bartonova, Gabriela Behrami, Linda Blahova, Petr Bohac, Martin Cetkovsky, Dominika Diamantova, Magdalena Dobiasova, Olga Filipovska, Jana Foldesova, Martina Grycova, Eduard Hrnciř, Jiri Horazdovsky, Katerina Hrazdirova, Monika Hudymacova, Marie Jandova, Hana Janatova, Lucie Jaresova, Ludmila Kajtmanova, Frantisek Keznikl, Peter Kicko, Zuzana Kondasova, Sarka Kozojedova, Jiri Korda, Jana Kreisslova, Anezka Kreisslova, Silvie Krchova, Lenka Kulmanova, Natalie Kunesova, Zdenka Kysilka, Iva Lomicova, Romana Machackova, Barbora Machackova, Lukas Mericko, Miroslav Necas, Helena Nemcova, Radka Neumannova, Michaela Novakova, Jitka Osmerova, Veronika Pallova, Veronika Patavova, Lucie Petrů, Marie Policarova, Tomas Pospisil, Simona Risianova, Filip Rob, Marcela Rozkosova, Libuse Sazmova, Jaroslav Sevcik, Iva Schmidtmayerova, Martin Sicha, Kristyna Sokolova, Eliska Stankova, Jan Sternbersky, Ivana Strouhalova, David Stuchlik, Alena Stumpfova, Katerina Svarcova, Katerina Tepla, Hana Tomkova, Jana Tresnak Hercogova, Simona Vachatova, Yvetta Vantuchova, Ivana Vejrova, Iva Zampachova   +76 more
wiley   +1 more source

Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1) [PDF]

, 2014
Background : Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic multisystem disorder and the commonest adult-onset form of muscular dystrophy. DM1 results from the expansion of an unstable trinucleotide cytosine-thymine-guanine (CTG) repeat
Jean, Stéphane, Laberge, Luc, Mathieu, Jean, Richer, Louis   +3 more
core   +2 more sources

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 788-795, April 2026.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
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