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List of works by Paolo Prontera

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

scholarly article by Valentina Rapaccini published in July 2018

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile

scientific article published on 03 August 2020

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? ⬇️

scientific article published on April 11, 2013

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

scientific article

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

scientific article published on 11 October 2020

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother ⬇️

scientific article published on December 10, 2010

Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis ⬇️

scientific article published on August 31, 2010

Induction of epileptic negative myoclonus by addition of lacosamide to carbamazepine ⬇️

scientific article published on 01 March 2011

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

scientific article published on 9 June 2011

Obstruction of the Tricuspid Valve Orifice by a Huge Right Atrial Myxoma Associated with the Carney Complex: A Case Report ⬇️

scientific article published on September 29, 2010

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

scientific article

Xq12‐q13.3 duplication: Evidence of a recurrent syndrome ⬇️

scientific article published on November 1, 2012

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