Results 61 to 70 of about 888,799 (202)

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

Frontiers in Genetics, 2021
Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of
Siiri Sarv, Tiina Kahre, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Sander Pajusalu, Kai Muru, Kai Muru, Haide Põder, Katrin Gross-Paju, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap, Katrin Õunap   +18 more
doaj   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Neuroprotective effect of non-viral gene therapy treatment based on tetanus toxin C-fragment in a severe mouse model of Spinal Muscular Atrophy.

Frontiers in Molecular Neuroscience, 2016
Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons.
Sara Olivan Garcia, Sara Olivan Garcia, Ana Cristina Calvo, Amaya Rando, Mireia Herrando-Grabulosa, Raquel Manzano, Pilar Zaragoza, Eduardo Fidel Tizzano, Jose Aguilera, Rosario Osta   +9 more
doaj   +1 more source

Psychological burden in spinal muscular atrophy patients and their families: a systematic review

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background Spinal muscular atrophy (SMA) is an autosomal-recessive disorder that manifests in paralysis and skeletal muscle weaknesses. This neuromuscular problem is caused by degeneration of the spinal cord anterior horn cells. Main body of the abstract
Dian Marta Sari, Laurentia Cindy Gani Wijaya, Wintoro Duraman Roives Sitorus, Mia Milanti Dewi   +3 more
doaj   +1 more source

Neurovascular coupling in bone regeneration: Mechanisms, advanced biomaterials and challenges

BMEMat, EarlyView.
This figure illustrates various material strategies for neurovascularized bone regeneration, including electroactive scaffolds, ion‐loaded materials, drug delivery systems, surface modifications, cells/cell products, growth factors, and peptides. These approaches aim to synergistically promote the regeneration of neural, vascular, and bone tissues ...
Yixin Ma, Nan Jiang, Liyuan Chen, He Zhang, Xinjia Cai, Karan Gulati, Danqing He, Zhigang Cai, Yan Liu   +8 more
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Spinal Muscular Atrophy Lab

, 2022
Lo Spinal Muscular Atrophy Lab è il primo “laboratorio” di management che ha l’obiettivo di supportare i sistemi sanitari (regionali e aziendali), i professionisti e i pazienti nel migliorare la qualità delle cure per le persone affette da ...
Tozzi, Valeria D., Ferrara, Lucia, Dalponte, Federica   +2 more
core  

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

, 2016
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad, Annapoorna Kannan, Kannan, Aannapoorna, Gangwani, Laxman, Ahmad, Saif, Laxman Gangwani, Bhatia, Kanchan, Kanchan Bhatia   +7 more
core   +1 more source