J Fujitake, Y Komatsu, Y Hataya, A Nishikawa… - Internal Medicine, 2011 - J-STAGE Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder characterized by cerebellar ataxia, congenital cataracts, mental retardation, primary hypogonadism, skeletal abnormalities and myopathy, and patients with MSS are considered to be at risk of falls and bone ... Related articles - All 3 versions
A Terracciano, F Renaldo, G Zanni… - European Journal of …, 2011 - Elsevier ... In a 2.5-years-old male patient with non syndromic congenital ataxia and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of Marinesco-Sjogren syndrome. ...
S Jhala, AN Tamvacakis… - Invertebrate Neuroscience, 2011 - Springer ... 2011), the release of 5-HT (Marinesco and Carew 2002), and evokes cellular analogs of behavioral sensitization (Walters et al. ... It was previously shown that stimulating p9 caused a general activation of serotonergic neurons throughout the nervous system (Marinesco et al. ...
沪公网安备号：31010402006960 （网站）31010405000484 （蝌蝌APP）
安全保密
