Publications by authors named "Cecile Freihuber"

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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Guillaume Cogan, Maha S Zaki, Mahmoud Issa, Boris Keren, Marine Guillaud-Bataille, Cécile Freihuber

Hum Genet· November 2024

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Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Florence Riant, Lydie Burglen, Michaelle Corpechot, Julien Robert, Alexandra Durr, Cécile Freihuber

Clin Genet· September 2023

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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Cécile Freihuber, Bahia Dahmani-Rabehi, Anaïs Brassier, Pierre Broué, Claude Cances

Orphanet J Rare Dis· July 2023

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Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.
Manon Tauzin, Jean-Marc Tréluyer, Rima Nabbout, Nicole Chemaly, Thierry Billette de Villemeur, Cécile Freihuber

J Clin Pharmacol· October 2021

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Dosing Recommendations for Lamotrigine in Children: Evaluation Based on Previous and New Population Pharmacokinetic Models.
Manon Tauzin, Jean-Marc Tréluyer, Rima Nabbout, Thierry Billette de Villemeur, Isabelle Desguerre, Cécile Freihuber

J Clin Pharmacol· May 2021

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Lessons learned from 40 novel PIGA patients and a review of the literature.
Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Cécile Freihuber

Epilepsia· June 2020

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Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Snezana Maljevic, Boris Keren, Ye Htet Aung, Ian C Forster, Cyril Mignot, Cécile Freihuber

Brain· May 2019

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Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.
Manon Tauzin, Jean-Marc Tréluyer, Rima Nabbout, Thierry Billette de Villemeur, Isabelle Desguerre, Cécile Freihuber

J Clin Pharmacol· March 2019

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