Results 71 to 80 of about 21,194 (199)
Genetics of Fukuyama Muscular Dystrophy
Pediatric Neurology Briefs, 1994 The Fukuyama congenital muscular dystrophy (FCMD) chromosome analysis has been further defined at the University of Tokyo; Department of Pediatrics, Tokyo Women’s Medical College; Kobe General Hospital; Aichi Welfare Center, Kasugai; and Nagoya City ...
J Gordon Millichap
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Techniques for subretinal injections in animals
Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
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Experimental Physiology, EarlyView.Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė +10 more
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Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Congenital muscular dystrophy with inflammation: Diagnostic considerations
Annals of Indian Academy of Neurology, 2016 Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic ...
Kaumudi Konkay +4 more
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Muscle &Nerve, Volume 74, Issue 5, Page 1421-1428, November 2026.ABSTRACT Introduction/Aims Children and adolescents with neuromuscular diseases often demonstrate muscle weakness and mobility limitations, which may increase perceived exertion during functional tasks. The OMNI scale was developed to assess perceived exertion in pediatric populations; however, its measurement properties in neuromuscular conditions ...
Juliana Cardoso +4 more
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Congenital Muscular Dystrophies and Cognitive Impairment
Pediatric Neurology Briefs, 2010 Reserchers at the Department of Paediatric Neurology, Catholic University, Rome and other Italian centers specializing in neuromuscular disease studied the prevalence of congenital muscular dystrophy (CMD) in the Italian population, and the frequency of ...
J Gordon Millichap
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Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein +3 more
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Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)
Journal of Fish Diseases, Volume 49, Issue 11, November 2026.ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon +12 more
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