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Article
Open AccessInsights into medical students’ perceptions of work culture during the COVID-19 pandemic: a mixed method study
The COVID-19 pandemic brought about profound social changes that affected students worldwide. These changes had both psychological and economic consequences, and also led to the adoption of new teaching method...
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Article
Open AccessLong-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with ...
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Article
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease
Tangier disease (TD) (OMIM#205400) is a rare autosomal recessive disorder resulting from mutations in the ABCA1 gene, leading to decreased levels of plasma high-density lipoproteins (HDL). Peripheral neuropathy i...
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Article
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia
Familial hypercholesterolemia (FH), a frequent monogenic condition complicated by premature cardiovascular disease, is characterized by high allelic heterogeneity at the low-density lipoprotein receptor (LDLR) l...
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Article
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely to be highly heterogeneous1,2,3. They can be categorized into syndromic (MRXS) and nonspecific (MRX) forms. In MRX form...
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Article
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
We demonstrate here the importance of interleukin signalling pathways in cognitive function and the normal physiology of the CNS. Thorough investigation of an MRX critical region in Xp22.1–21.3 enabled us to i...
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Article
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which affected patients do not have any distinctive clinical or biochemical features in common apart from cognitive impa...
