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87,938 results
  • [Tardive dyskinesia following discontinuation of neuroleptic therapy in 87-year-old patient]. [Review]
    Soins Gerontol 2019 Nov - Dec; 24(140):41-42Lecomte F, Lobbe M, … Pautas É
  • In the absence of a therapeutic alternative, the use of neuroleptics in geriatrics should be limited to the bare minimum, given their potentially serious deleterious effects in frail elderly patients. Dyskinesia is one of their most common side effects. Case of an elderly patient in whom the dyskinesia was revealed following abrupt cessation of a neuroleptic taken in the long term with discussion…
  • PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [Journal Article]
    Ital J Pediatr 2019; 45(1):159Pavone P, Corsello G, … Falsaperla R
  • CONCLUSIONS: Several hypotheses have been advanced on the specific role that PRRT2 gene mutations play to cause the clinical features of affected patients. To our knowledge, the severe phenotype seen in this case has never been reported in association with any clinically actionable variant, as the missense substitution detected in PRRT2 gene. Intriguingly, the same mutation was reported in the healthy father: the action of modifying factors in the affected child may be hypothesized. The report of similar observations could extend the spectrum of clinical manifestations linked to this mutation.
  • The expanding spectrum of movement disorders in genetic epilepsies. [Review]
    Dev Med Child Neurol 2019Papandreou A, Danti FR, … Kurian MA
  • An ever-increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the 'genetic epilepsy-dyskinesia' spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establis…
  • Sperm defects in primary ciliary dyskinesia and related causes of male infertility. [Review]
    Cell Mol Life Sci 2019Sironen A, Shoemark A, … Mitchison HM
  • The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that genetic defects in motile cilia also have an effect on sperm tail formation. However, recent studies in human patients, animal models and model organisms have indicated that there are differences in components of specific structures within …
  • Infectious Trigger for Autoimmune Encephalitis: A Case Report and Literature Review. [Case Reports]
    Case Rep Infect Dis 2019; 2019:5731969Sahar N, Nurre AM, Simon RQ
  • Herpes simplex virus 1 infection is a common cause of encephalitis (HSVE) in the United States. Post-HSVE development of N-methyl-D-aspartate receptor (NMDAR) antibodies resulting in autoimmune encephalitis is a rare complication, primarily affecting children and young adults. Anti-NMDAR develops 1-4 weeks after HSVE, manifesting as choreoathetosis and/or orofacial dyskinesia in children and psyc…
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