Cécile Freihuber

Affiliations

Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France.

Publications (8)

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Clinical genetics

Avec: Florence Riant , Lydie Burglen , Michaelle Corpechot , Julien Robert , Alexandra Durr , Guilhem Solé , Florence Petit , Cécile Freihuber , Olivier De Marco , Catherine Sarret , Giovanni Castelnovo , Françoise Devillard , Alexandra Afenjar , Bénédicte Héron , Elisabeth Tournier Lasserve

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Orphanet journal of rare diseases

Avec: Cécile Freihuber , Bahia Dahmani-Rabehi , Anaïs Brassier , Pierre Broué , Claude Cances , Brigitte Chabrol , Didier Eyer , François Labarthe , Philippe Latour , Thierry Levade , Samia Pichard , Caroline Sevin , Marie T Vanier , Bénédicte Héron

Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.

Journal of clinical pharmacology

Avec: Manon Tauzin , Jean-Marc Tréluyer , Rima Nabbout , Thierry Billette de Villemeur , Isabelle Desguerre , Radia Aboura , Ines Gana , Yi Zheng , Sihem Benaboud , Naim Bouazza , Camille Chenevier-Gobeaux , Cécile Freihuber , Déborah Hirt

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia

Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia!

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: A Escudier , E Giabicani , B Neven , E Gouache , M Blanchard , A Isapof , M-C Nougues , C Freihuber

Dosing Recommendations for Lamotrigine in Children: Evaluation Based on Previous and New Population Pharmacokinetic Models.

Journal of clinical pharmacology

Avec: Manon Tauzin , Jean-Marc Tréluyer , Rima Nabbout , Thierry Billette de Villemeur , Isabelle Desguerre , Radia Aboura , Ines Gana , Yi Zheng , Sihem Benaboud , Naim Bouazza , Camille Chenevier-Gobeaux , Cécile Freihuber , Déborah Hirt

Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.

Journal of clinical pharmacology

Avec: Manon Tauzin , Jean-Marc Tréluyer , Rima Nabbout , Nicole Chemaly , Thierry Billette de Villemeur , Isabelle Desguerre , Gabrielle Lui , Ines Gana , Sana Boujaafar , Yi Zheng , Sihem Benaboud , Naim Bouazza , Camille Chenevier-Gobeaux , Cécile Freihuber , Déborah Hirt

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Human genetics

Avec: Guillaume Cogan , Maha S Zaki , Mahmoud Issa , Boris Keren , Marine Guillaud-Bataille , Florence Renaldo , Arnaud Isapof , Pauline Lallemant , Giovanni Stevanin , Lena Guillot-Noel , Thomas Courtin , Julien Buratti , Cécile Freihuber , Joseph G Gleeson , Robyn Howarth , Alexandra Durr , Jean-Madeleine de Sainte Agathe , Cyril Mignot

Réseau de co-auteurs

Manon Tauzin 3 collaborations

Jean-Marc Tréluyer 3 collaborations

Rima Nabbout 3 collaborations

Thierry Billette de Villemeur 3 collaborations

Isabelle Desguerre 3 collaborations

Ines Gana 3 collaborations

Yi Zheng 3 collaborations

Sihem Benaboud 3 collaborations

Naim Bouazza 3 collaborations

Camille Chenevier-Gobeaux 3 collaborations

Déborah Hirt 3 collaborations

Alexandra Durr 2 collaborations

Alexandra Afenjar 2 collaborations

Bénédicte Héron 2 collaborations

Radia Aboura 2 collaborations

Cyril Mignot 2 collaborations

Florence Riant 1 collaboration

Lydie Burglen 1 collaboration

Michaelle Corpechot 1 collaboration

Julien Robert 1 collaboration

Guilhem Solé 1 collaboration

Florence Petit 1 collaboration

Olivier De Marco 1 collaboration

Catherine Sarret 1 collaboration

Giovanni Castelnovo 1 collaboration

Françoise Devillard 1 collaboration

Elisabeth Tournier Lasserve 1 collaboration

Bahia Dahmani-Rabehi 1 collaboration

Anaïs Brassier 1 collaboration

Pierre Broué 1 collaboration

Claude Cances 1 collaboration

Brigitte Chabrol 1 collaboration

Didier Eyer 1 collaboration

François Labarthe 1 collaboration

Philippe Latour 1 collaboration

Thierry Levade 1 collaboration

Samia Pichard 1 collaboration

Caroline Sevin 1 collaboration

Marie T Vanier 1 collaboration

Allan Bayat 1 collaboration

Alexej Knaus 1 collaboration

Manuela Pendziwiat 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Friedrich Bosch 1 collaboration

Bert Callewaert 1 collaboration

Patrick Calvas 1 collaboration

Berten Ceulemans 1 collaboration

Nicolas Chassaing 1 collaboration

Christel Depienne 1 collaboration

Milda Endziniene 1 collaboration

Carlos R Ferreira 1 collaboration

Carolina Fischinger Moura de Souza 1 collaboration

Shiva Ganesan 1 collaboration

Svetlana Gataullina 1 collaboration

Renzo Guerrini 1 collaboration

Anne-Marie Guerrot 1 collaboration

Lars Hansen 1 collaboration

Aleksandra Jezela-Stanek 1 collaboration

Caroline Karsenty 1 collaboration

Anneke Kievit 1 collaboration

Frank R Kooy 1 collaboration

Christian M Korff 1 collaboration

Johanne Kragh Hansen 1 collaboration

Martin Larsen 1 collaboration

Valérie Layet 1 collaboration

Gaetan Lesca 1 collaboration

Kim L McBride 1 collaboration

Marije Meuwissen 1 collaboration

Martino Montomoli 1 collaboration

Hannah Moore 1 collaboration

Sophie Naudion 1 collaboration

Caroline Nava 1 collaboration

Marie-Christine Nougues 1 collaboration

Elena Parrini 1 collaboration

Matthew Pastore 1 collaboration

Jurgen H Schelhaas 1 collaboration

Steven Skinner 1 collaboration

Krzysztoł Szczałuba 1 collaboration

Ashley Thomas 1 collaboration

Mads Thomassen 1 collaboration

Lisbeth Tranebjaerg 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Lynne A Wolfe 1 collaboration

Dennis Lal 1 collaboration

Elena Gardella 1 collaboration

Lilian Bomme Ousager 1 collaboration

Tobias Brünger 1 collaboration

Ingo Helbig 1 collaboration

Peter Krawitz 1 collaboration

Rikke S Møller 1 collaboration

A Escudier 1 collaboration

E Giabicani 1 collaboration

B Neven 1 collaboration

E Gouache 1 collaboration

M Blanchard 1 collaboration

A Isapof 1 collaboration

M-C Nougues 1 collaboration

C Freihuber 1 collaboration

Nicole Chemaly 1 collaboration

Gabrielle Lui 1 collaboration

Sana Boujaafar 1 collaboration

Guillaume Cogan 1 collaboration

Maha S Zaki 1 collaboration

Mahmoud Issa 1 collaboration

Boris Keren 1 collaboration

Marine Guillaud-Bataille 1 collaboration

Florence Renaldo 1 collaboration

Arnaud Isapof 1 collaboration

Pauline Lallemant 1 collaboration

Giovanni Stevanin 1 collaboration

Lena Guillot-Noel 1 collaboration

Thomas Courtin 1 collaboration

Julien Buratti 1 collaboration

Joseph G Gleeson 1 collaboration

Robyn Howarth 1 collaboration

Jean-Madeleine de Sainte Agathe 1 collaboration