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Comment
. 2016 Dec;30(12):47.
doi: 10.15844/pedneurbriefs-30-12-3.

Neurocognitive Functions and Behavior in Joubert Syndrome

Andrea Poretti  1 , Gwendolyn J Gerner  2
Affiliations
Comment

Neurocognitive Functions and Behavior in Joubert Syndrome

Andrea Poretti et al. Pediatr Neurol Briefs. 2016 Dec.

Abstract

Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.

Keywords: Behavior; Cognitive functions; Joubert syndrome.

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Comment on

  • Cognitive, adaptive, and behavioral features in Joubert syndrome.
    Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D. Bulgheroni S, et al. Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27530364

References

    1. Bulgheroni S, D’Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, et al. Cognitive, adaptive, and behavioral features in Joubert syndrome. Am J Med Genet A. 2016 Dec;170(12):3115–24. doi: 10.1002/ajmg.a.37938. - DOI - PubMed
    1. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011 Sep;32(8):1459–63. doi: 10.3174/ajnr.A2517. - DOI - PMC - PubMed
    1. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013 Sep;12(9):894–905. doi: 10.1016/S1474-4422(13)70136-4. - DOI - PMC - PubMed
    1. Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain. 1998 Apr;121(Pt 4):561–79. doi: 10.1093/brain/121.4.561. - DOI - PubMed

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