Results 71 to 80 of about 20,899 (290)
Biotechnology and Bioengineering, EarlyView.ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai +9 more
wiley +1 more source
Cell Reports, 2017 Summary: Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism often result in neurodegenerative conditions, with increasing evidence suggesting that translation defects can contribute to disease.
Paola Bernabò +14 more
doaj +1 more source
Notch Signaling Pathway Is Activated in Motoneurons of Spinal Muscular Atrophy [PDF]
, 2013 Spinal muscular atrophy (SMA) is a neurodegenerative disease produced by low levels of Survival Motor Neuron (SMN) protein that affects alpha motoneurons in the spinal cord.
Caraballo Miralles, Víctor +7 more
core +4 more sources
RWD164 The Impact of Spinal Muscular Atrophy (SMA) Type 1 on Caregivers in Taiwan: Results of a Global Survey [PDF]
, 2023 Anish Patel +4 more
openalex +1 more source
Clinical Pharmacology in Drug Development, EarlyView.Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee +5 more
wiley +1 more source
Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]
, 2017 PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA +5 more
core +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 +3 more
wiley +1 more source
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 +18 more
doaj +1 more source
Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells. [PDF]
, 2006 Mutations of the survival motor neuron gene SMN1 cause the inherited disease spinal muscular atrophy (SMA). The ubiquitous SMN protein facilitates the biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs).
Cibert, Christian +5 more
core +3 more sources
Epilepsia Open, EarlyView.Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha +27 more
wiley +1 more source