Publications Authored by Apolline Imbard

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Authors:

Alexandra Bower Apolline Imbard Jean-François Benoist Samia Pichard Odile Rigal Olivier Baud Manuel Schiff

Sci Rep 2019 Oct 1;9(1):14098. Epub 2019 Oct 1.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, 75019, France.

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http://dx.doi.org/10.1038/s41598-019-50518-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773867	PMC

October 2019

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Authors:

Joseph P Dewulf Elsa Wiame Imen Dorboz Monique Elmaleh-Bergès Apolline Imbard Dana Dumitriu Malgorzata Rak Agnès Bourillon Raphaël Helaers Alisha Malla Florence Renaldo Odile Boespflug-Tanguy Marie-Françoise Vincent Jean-François Benoist Ron A Wevers Avner Schlessinger Emile Van Schaftingen Marie-Cécile Nassogne Manuel Schiff

Ann Neurol 2019 03 29;85(3):385-395. Epub 2019 Jan 29.

UMR1141, PROTECT, INSERM, Paris Diderot University, Sorbonne Paris Cité, Paris, France.

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http://doi.wiley.com/10.1002/ana.25412	Publisher Site
http://dx.doi.org/10.1002/ana.25412	DOI Listing

March 2019

Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.

Authors:

Romain Deschamps Julien Savatovsky Catherine Vignal Matthieu Fisselier Apolline Imbard Barry Wolf Melinda Procter Olivier Gout

J Neurol Neurosurg Psychiatry 2018 09 12;89(9):1009-1010. Epub 2017 Oct 12.

Department of Neurology, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2017-316644	DOI Listing

September 2018

Long-term liver disease in methylmalonic and propionic acidemias.

Authors:

Apolline Imbard Nuria Garcia Segarra Marine Tardieu Pierre Broué Juliette Bouchereau Samia Pichard Hélène Ogier de Baulny Abdelhamid Slama Charlotte Mussini Guy Touati Marie Danjoux Pauline Gaignard Hannes Vogel François Labarthe Manuel Schiff Jean-François Benoist

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.009	DOI Listing

April 2018

Neurocognitive profiles in MSUD school-age patients.

J Inherit Metab Dis 2017 05 21;40(3):377-383. Epub 2017 Mar 21.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 48 boulevard Sérurier, 75019, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0033-7	DOI Listing

May 2017

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Am J Hum Genet 2017 02 26;100(2):257-266. Epub 2017 Jan 26.

UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris 75019, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.002	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294665	PMC

February 2017

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

Elife 2016 09 13;5. Epub 2016 Sep 13.

UMR1141, PROTECT, INSERM, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.7554/eLife.17163	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021520	PMC

September 2016

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Am J Hum Genet 2016 Jun;98(6):1130-1145

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2016.04.006	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908180	PMC

June 2016

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Authors:

Apolline Imbard Eric Pasmant Audrey Sabbagh Armelle Luscan Magali Soares Philippe Goussard Hélène Blanché Ingrid Laurendeau Salah Ferkal Michel Vidaud Stéphane Pinson Christine Bellanne-Chantelot Dominique Vidaud Pierre Wolkenstein Béatrice Parfait

J Hum Genet 2015 Apr 29;60(4):221-4. Epub 2015 Jan 29.

1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://www.nature.com/articles/jhg20156	Publisher Site
http://dx.doi.org/10.1038/jhg.2015.6	DOI Listing

April 2015

High homocysteine induces betaine depletion.

Authors:

Apolline Imbard Jean-François Benoist Ruben Esse Sapna Gupta Sophie Lebon An S de Vriese Helene Ogier de Baulny Warren Kruger Manuel Schiff Henk J Blom

Biosci Rep 2015 Apr 28;35(4). Epub 2015 Apr 28.

‡Laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg D-79106, Germany.

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http://www.bioscirep.org/content/ppbioscirep/35/4/e00222.ful	Web Search
http://bioscirep.org/cgi/doi/10.1042/BSR20150094	Publisher Site
http://dx.doi.org/10.1042/BSR20150094	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613678	PMC

April 2015

New spastic paraplegia phenotype associated to mutation of NFU1.

Authors:

Davide Tonduti Imen Dorboz Apolline Imbard Abdelhamid Slama Audrey Boutron Samia Pichard Monique Elmaleh Louis Vallée Jean François Benoist Heléne Ogier Odile Boespflug-Tanguy

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1186/s13023-015-0237-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333890	PMC

February 2015

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

Authors:

Soraia Poloni Sandra Leistner-Segal Isabel Cristina Bandeira Vânia D'Almeida Carolina Fischinger Moura de Souza Poli Mara Spritzer Kamila Castro Tássia Tonon Tatiéle Nalin Apolline Imbard Henk J Blom Ida V D Schwartz

Gene 2014 Aug 6;546(2):443-7. Epub 2014 May 6.

Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1016/j.gene.2014.05.015	DOI Listing

August 2014

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.

Authors:

Ruben Esse Apolline Imbard Cristina Florindo Sapna Gupta Eoin P Quinlivan Mariska Davids Tom Teerlink Isabel Tavares de Almeida Warren D Kruger Henk J Blom Rita Castro

FASEB J 2014 Jun 14;28(6):2686-95. Epub 2014 Feb 14.

Institute for Medicines and Pharmaceutical Sciences (iMed.UL) and Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal;

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http://dx.doi.org/10.1096/fj.13-246579	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021445	PMC

June 2014

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Authors:

Audrey Sabbagh Eric Pasmant Apolline Imbard Armelle Luscan Magali Soares Hélène Blanché Ingrid Laurendeau Salah Ferkal Michel Vidaud Stéphane Pinson Christine Bellanné-Chantelot Dominique Vidaud Béatrice Parfait Pierre Wolkenstein

Hum Mutat 2013 Nov 26;34(11):1510-8. Epub 2013 Aug 26.

UMR745 INSERM, PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; IRD, UMR216, Mère et enfant face aux infections tropicales, Paris, France; PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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