Results 41 to 50 of about 51,591 (290)
Genetic and phenotypic heterogeneity in pattern dystrophy [PDF]
British Journal of Ophthalmology, 2005 The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised.Families were ...
P J, Francis +9 more
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فعالية برنامج معرفي سلوكي لتخفيف الضغوط الحياتية لدى أمهات الأطفال المصابين بضمور العضلات [PDF]
Mağallaẗ Kulliyyaẗ Al-H̲idmaẗ Al-Īğtimāʿiyyaẗ Lil Dirāst wa Al-Buḥūṯ Al-Īğtimāʿiyyaẗ, 2023 ملخص الدراسة: استهدفت الدراسة اختبار فعالية برنامج تدخل مهني قائم على العلاج المعرفي السلوكي لتخفيف الضغوط الحياتية لدى امهات الاطفال المصابين بضمور العضلات ، وتمثل الفرض الرئيسي للدراسة في: توجد فروق دالة إحصائياً بين متوسطات درجات القياسين القبلي ...
منال مبروك عبد المتجلي عبد الحافظ
doaj +1 more source
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina [PDF]
, 1996 PURPOSE: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies.
Büchi, Ernst R +3 more
core +1 more source
Chinese Medical Journal, 2018 Background: LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic
Hui-Ting Lin +8 more
doaj +1 more source
BMC Neurology, 2021 Background Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness.
Yo-suke Nishii +8 more
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Dystrophic muscle distribution in late-stage muscular dystrophy
Autopsy and Case Reports, 2021 There is scant information about the comprehensive distribution of dystrophic muscles in muscular dystrophy. Despite different clinical presentations of muscular dystrophy, a recent multi-center study concluded that phenotypic distribution of dystrophic ...
Celeste Michelle Pilato +10 more
doaj
Pigment epithelial pattern dystrophy: a peripheral type. [PDF]
British Journal of Ophthalmology, 1985 A hitherto undescribed form of pattern dystrophy of the retinal pigment epithelium was found in a patient suffering from mucopolysaccharidosis II or Hunter's disease. We propose the name peripheral pattern dystrophy.
Delleman, J.W., de Jong, P.T.V.M.
openaire +3 more sources
Frontiers in Ophthalmology, 2023 Adult-onset foveomacular dystrophy (AOFVD) is a retinal pattern dystrophy that may affect up to 1 in 7,400 individuals. There is much that is unknown regarding this disease’s epidemiology, risk factors for development, and rate of progression through its
Grace E. Nipp +5 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source