Leigh syndrome: the genetic heterogeneity story continues
نویسندگان
چکیده
منابع مشابه
The Success Story Continues …
Figure 1. Key performance indicators for Advanced Science during the first years. Table 1 presents the highest cited papers in 2016 (published in 2014 and 2015) which will be the main driving force for the next ISI impact factor. Popular topics include solar cells, batteries, but also photocatalysts, metal-organic frameworks, and hydrogel composites. Since the journal was included in PubMedCent...
متن کاملSerotonin and epilepsy: the story continues.
Commentary The observation that mood disorders and epilepsy often go hand in hand is certainly not new. Indeed, the reported prevalence of depression in patients with epilepsy has been reported to range between 12 and 40 percent in various patient populations and settings. One recent meta-analysis suggested and overall prevalence of active depression of about 24% (1). Left inadequately treated,...
متن کاملGenetic heterogeneity of Meckel syndrome.
Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this po...
متن کاملGenetic heterogeneity of Usher syndrome.
Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understa...
متن کاملThe story of neuromyelitis optica continues to be written.
Correspondence: Yara Dadalti Fragoso; Rua da Constituição, 374; 11015470 Santos SP; Brazil. E-mail: [email protected]. br Conflict of interest: There is no conflict of interest to declare. Received 13 April 2014 Accepted 28 April 2014 Neuromyelitis optica (NMO) is a relatively rare and particularly intriguing disease. NMO was first described by Devic and Gault at the end of the 19 century, but it ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Brain
سال: 2014
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awu264