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…, JS LIN, D BARBIER, S MARINESCO - Biosensors and …, 2011 - Elsevier
... Natalia VASYLIEVA 1 , 2 , Bogdan BARNYCH 3 , Anne MEILLER 4 , Caroline MAUCLER 1 ,
Loredano POLLEGIONI 5 , Jian-Sheng LIN 1 , Daniel BARBIER 2 and Stéphane MARINESCO
1 , 4 , Corresponding Author Contact Information , E-mail The Corresponding Author. ...
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 ...
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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. ...
T Klockgether… - Movement Disorders, 2011 - Wiley Online Library
... 1.1.6. Ataxia with isolated vitamin E deficiency (AVED). 1.1.7. Marinesco-Sjögren syndrome
(MSS). 1.1.8. Autosomal recessive ataxias due to POLG mutations (MIRAS, SANDO). ... ARSACS,
Sacsin, Proteasomal system. Marinesco-Sjögren syndrome (MSS), SIL1, ER glycoprotein. ...
Related articles - All 2 versions

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