CINECA IRIS Institutional Research Information System

IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.

Prodotti recenti

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with&...

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Use of mild cognitive impairment and prodromal AD/MCI due to AD in clinical care: a European survey

The diagnosis of mild cognitive impairment (MCI) refers to cognitive impairment not meeting dementia criteria. A survey among members of the American Association of Neurology (AAN) showed that MCI was considered a useful diagnosis. Recently, research criteria have been proposed for the ...

Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions

Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment

Pseudotumor cerebri syndrome (PTCS), characterized mainly by raised intracranial pressure (ICP), occurs in children as well as adults. Management of PTCS in adolescents (but not necessarily prepubertal children) is similar to that in older patients. Augmented formation of cerebrospinal fluid (CSF...

CINECA IRIS Institutional Research Information System

Prodotti recenti

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Use of mild cognitive impairment and prodromal AD/MCI due to AD in clinical care: a European survey

Pediatric Pseudotumor Cerebri Syndrome: Recent Insights and Future Directions

Molecular Modeling of Cerebrospinal Fluid Dynamics in Pediatric Pseudotumor Cerebri Syndrome: Altered Sodium Transport in Choroid Plexus by Lithium Treatment

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