Results 51 to 60 of about 31,854 (258)

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Orphanet Journal of Rare Diseases, 2018
Background Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity.
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller   +38 more
doaj   +1 more source

MYOTONIC DYSTROPHY AND THE HEART [PDF]

Heart, 2002
Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert’s
Tommaso Sanna, G. De Martino, A. Dello Russo, F Bellocci, G Pelargonio   +4 more
openaire   +3 more sources

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

The contribution of extracellular RNA and its derived biomaterials in disease management

BMEMat, EarlyView.
The implications of exRNA's biological function and the structural uniqueness of RNA help establish a close connection between RNA, material, and modern medicine. Abstract The RNA found in the circular system is known as extracellular RNA (exRNA). This kind of RNA has been found to play a biological role similar to that of a messenger. They can be used
Yu Wei, Zhangyi Wang, Zixuan Qin, Qianqian Wan, Yutao Li, Franklin R. Tay, Chenyu Wang, Tong Zhang, Lina Niu   +8 more
wiley   +1 more source

Steinert's syndrome presenting as anal incontinence: a case report

Journal of Medical Case Reports, 2011
Introduction Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy ...
Uzum Ayse, Toros Ahmet, Erdenen Fusun, Sacak Sirin   +3 more
doaj   +1 more source

A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

The EuroBiotech Journal, 2023
The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U., Granados Javier T., Brook John David   +2 more
doaj   +1 more source

Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa

Life, 2021
Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP.
Mei Nakahara, Akio Oishi, Manabu Miyata, Hanako Ohashi Ikeda, Tomoko Hasegawa, Shogo Numa, Yuki Otsuka, Maho Oishi, Fumihiko Matsuda, Akitaka Tsujikawa   +9 more
doaj   +1 more source

Recent Cutting‐Edge Technologies for the Delivery of Peptide Nucleic Acid

Chemistry – A European Journal, EarlyView.
This review provides an overview of PNA cellular delivery methods, starting with traditional peptide‐based systems and progressing to advanced approaches using nanoparticles, liposomes, and calixarene. It highlights how these innovative strategies have opened the way for more effective and efficient PNA delivery, ultimately enhancing the potential for ...
Concetta Avitabile, Maria Teresa Cerasa, Antonia D'Aniello, Michele Saviano, Maria Moccia   +4 more
wiley   +1 more source

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]

, 2015
Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu, Comai, Lucio, Dixon, Donald M, El-Ghazali, Ayea, Fishbein, Michael C, Jordan, Maria C, Park, Sun Young, Reddy, Sita, Roos, Kenneth P   +8 more
core  

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease [PDF]

, 2011
Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a ...
Abe, Antonini, Ashburner, Basser, Beaulieu, Bernd Weber, Brook, Buysse, Caramia, Catani, Christian Anspach, Christiane Schneider-Gold, Christoph Helmstaedter, Ciafaloni, Cornelia Kornblum, Damoiseaux, Day, Dhaenens, Di Costanzo, Di Costanzo, Dickinson, Dineen, Fliessbach, Fukuda, Gaul, Ghanem, Giubilei, Good, Hashimoto, Hautzinger, Hilton-Jones, Hoppe, Hublin, Hund, Itoh, Jan-Christoph Schoene-Bake, Jiang, Jin, Johns, Johnson, Kalkman, Kassubek, Klinke, Kornblum, Krupp, Kuo, Laberge, Laberge, Lebel, Lehrl, Leroy, Liquori, Machuca-Tzili, Mamah, Marc Tittgemeyer, Martina Minnerop, Martínez-Rodríguez, Mathieu, Maurage, Meola, Meola, Meola, Minnerop, Mitsuoka, Modoni, Modoni, Moseley, Naka, Ogata, Oliveri, Ono, Ono, Ono, Orfei, Ota, Oyamada, Park, Regina C. Betz, Romeo, Romigi, Rosman, Rubinsztein, Sandra Mirbach, Sandra Roeske, Sergeant, Shen, Smith, Smith, Thomas Klockgether, Tieleman, Tiffin, Toscano, van der Meché, van der Werf, Vermersch, Vielhaber, Wahlund, Weber, Winblad, Wiśniewski, Wozniak, Yu   +101 more
core   +2 more sources