Results 41 to 50 of about 393,617 (341)

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +2 more sources

Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk

Frontiers in Molecular Neuroscience
Redox homeostasis is impaired in Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by the decreased expression of the mitochondrial protein frataxin.
Andrea Quatrana, Sara Petrillo, Caterina Torda, Eleonora De Santis, Enrico Bertini, Fiorella Piemonte   +5 more
doaj   +1 more source

Musculoskeletal complications of Cushing syndrome

Rheumatology, 2023
Prolonged exposure to an excess of glucocorticosteroids (GCs), both endogenous and exogenous, leads to a wide range of comorbidities, including cardiovascular, metabolic, psychiatric, and musculoskeletal disorders.
Dorota Leszczyńska, Alicja Szatko, Lucyna Papierska, Wojciech Zgliczyński, Piotr Glinicki   +4 more
doaj   +1 more source

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
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Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]

, 2019
Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder, Dhindsa, Banreet S., Hassen, Getaw W., Madiraju, Sarvani, Rochling, Fedja A.   +4 more
core   +2 more sources

The use of umbilical cord‐derived mesenchymal stem cells in patients with muscular dystrophies: Results from compassionate use in real‐life settings

Stem Cells Translational Medicine, 2021
Muscular dystrophies are genetically determined progressive diseases with no cause‐related treatment and limited supportive treatment. Although stem cells cannot resolve the underlying genetic conditions, their wide‐ranging therapeutic properties may ...
Beata Świątkowska‐Flis, Izabela Zdolińska‐Malinowska, Dominika Sługocka, Dariusz Boruczkowski   +3 more
doaj   +1 more source

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]

, 2016
Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo, Bello, Luca, Bertolin, Cinzia, Briani, Chiara, Caretta, Nicola, Corrado, Domenico, da Re, Elisa, Ermani, Mario, Ferlin, Alberto, Foresta, Carlo, Gaiani, Alessandra, Galasso, Giuliana, Iafrate, Massimo, Mandrioli, Jessica, Mariotti, Caterina, Massa, Roberto, Mazzini, Letizia, Palmieri, Arianna, Pareyson, Davide, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Petrucci, Antonio, Polo, Alberto, Querin, Giorgia, Ricci, Giulia, Romito, Silvia, Sagnelli, Anna, Sartori, Leonardo, Scarpelli, Mauro, Semplicini, Claudio, Siciliano, Gabriele, Silani, Vincenzo, Silvano, Maria, Soraru', Gianni, Tonin, Paola, Volpe, Marco, Zara, Gabriella   +37 more
core   +1 more source

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Brain Sciences
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini, Francesco Nicita   +8 more
doaj   +1 more source

Ion channels: structural basis for function and disease. [PDF]

, 1996
Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core   +1 more source