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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
(2017-01-30)
BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated ...
NF-κB activation and severity of gastritis in Helicobacter pylori-infected children and adults.
(2014-06)
BACKGROUND: In contrast to adults, Helicobacter pylori gastritis in children is reported as milder and ulcer disease as uncommon, but unequivocal data are lacking. OBJECTIVES: To compare the frequency of gastro-duodenal ...
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
(2017-08)
BACKGROUND: The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either ...
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
(2017-11)
Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and ...
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
(2016-07)
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ...