Persistent Expression of FLAG-tagged Micro dystrophin in Nonhuman Primates Following Intramuscular and Vascular Delivery [PDF]
, 2009 Louise R. Rodino‐Klapac +12 more
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Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry [PDF]
, 1992 Acary Souza Bullé Oliveira +6 more
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Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
Glia, Volume 74, Issue 2, February 2026.Mechanical properties of Mlc1‐null astrocytes are altered. Cytoskeleton‐related pathways are dysregulated in Mlc1‐null astrocytes. Mlc1‐null astrocytes show alterations in focal adhesions, which link the cytoskeleton to the extracellular matrix. ABSTRACT Loss of function of the astrocyte protein MLC1 causes Megalencephalic Leukoencephalopathy with ...
Quinty Bisseling +10 more
wiley +1 more source
Dystrophin and dystrophin-associated protein in muscles and nerves from monkey
European Journal of Histochemistry, 2009 Since all organs (i.e. skeletal, cardiac, smooth muscles and sciatic nerve) are never only taken from a single patient, all these tissues were obtained from one cynomolgus monkey, a model closely resembling humans.
M Royuela +8 more
doaj +1 more source
Non-sequential and multi-step splicing of the dystrophin transcript [PDF]
, 2015 Isabella Gazzoli +6 more
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The Impact of Aquaporin‐4 Deletion on K+‐Induced Astrocytic Swelling Depends on K+ Concentration
Glia, Volume 74, Issue 1, January 2026.Swelling due to 10 mM [K+]o is reduced in astrocytes devoid of aquaporin‐4, while there is no difference between genotypes when exposed to 50 mM [K+]o. The two [K+]o concentrations induce distinct astrocytic Ca2+ signaling in the two genotypes pointing to a possible mechanistic basis of the differences observed. ABSTRACT Astrocytes swell in response to
Cecilie Bugge Bakketun +5 more
wiley +1 more source
Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights
Developmental Medicine &Child Neurology, EarlyView.
Claudia Brogna, Eugenio Mercuri
wiley +1 more source
Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami +2 more
wiley +1 more source
DYSTROPHIN GEN MUTATIONS IN THE POPULATION OF AZERBAIJAN REPUBLIC [PDF]
, 2020 S. A. Aghayeva +5 more
openalex +1 more source