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Structure: Internal structure identifier : 168381
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A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood

Elodie Hainque , Samantha Caillet , Sandrine Leroy , Constance Flamand-Roze , Isaac Mawusi Adanyeguh et al.
Orphanet Journal of Rare Diseases, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩
Journal articles inserm-01612741v1

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Kanetee Busiah , Cécile Laroche , Marine Madrange , Coraline Grisel , Clément Pontoizeau et al.
American Journal of Human Genetics, 2017, 101 (2), pp.283--290. ⟨10.1016/j.ajhg.2017.07.001⟩
Journal articles hal-02281951v1

Contiguous mutation syndrome in the era of high-throughput sequencing

Maéva Langouët Langouët , Karine Siquier-Pernet , Sylvia Sanquer , Christine Bole-Feysot , Patrick Nitschke et al.
Molecular Genetics & Genomic Medicine, 2015, 3 (3), pp.215-220. ⟨10.1002/mgg3.134⟩
Journal articles hal-02087771v1
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Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

J Bonnefont , J Bastin , P Laforêt , F Aubey , A Mogenet et al.
Clinical Pharmacology and Therapeutics, 2010, 88 (1), pp.101-108. ⟨10.1038/clpt.2010.55⟩
Journal articles inserm-02896226v1

Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1

Juliette Berger , Marie Vigan , Bruno Pereira , Thu Thuy Nguyen , Roseline Froissart et al.
Clinical Pharmacokinetics, 2019, 58 (4), pp.469-482. ⟨10.1007/s40262-018-0708-8⟩
Journal articles hal-02052295v1

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier , Cyril Goizet , Alexandra Durr , Florence Habarou , Sara Morais et al.
Brain - A Journal of Neurology , 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
Journal articles hal-03157279v1
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Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

Wladimir Mauhin , Olivier Lidove , Damien Amelin , Foudil Lamari , Catherine Caillaud et al.
Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.127. ⟨10.1186/s13023-018-0877-4⟩
Journal articles hal-02086919v1
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Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington disease

Fanny Mochel , Sandrine Duteil , Cecilia Marelli , Céline Jauffret , Agnès Barles et al.
European Journal of Human Genetics, 2010, 18 (9), pp.1057-60. ⟨10.1038/ejhg.2010.72⟩
Journal articles hal-00540038v1
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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Elisa Masat , Pascal Laforêt , Marie de Antonio , Guillaume Corre , Barbara Perniconi et al.
Scientific Reports, 2016, 6, pp.36182. ⟨10.1038/srep36182⟩
Journal articles hal-01404918v1

A new lysosomal storage disorder resembling Morquio syndrome in sibs

Laurence Perrin , Odile Fenneteau , Brice Ilharreborde , Yline Capri , Marion Gérard et al.
European Journal of Medical Genetics, 2012, 55 (3), pp.157-162. ⟨10.1016/j.ejmg.2012.01.001⟩
Journal articles hal-02342667v1
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Dried Blood Spot Recovery: A Microfluidic Technique for Fast Elution Without Dilution

Étienne Coz , Alexandre Vilquin , Élian Martin , Pierre Garneret , Yannick Raguel et al.
Preprints, Working Papers, ... hal-04013966v1

Design of potent mannose 6-phosphate analogues for the functionalization of lysosomal enzymes to improve the treatment of pompe disease

Khaled El Cheikh , Ilaria Basile , Afitz da Silva , Coralie Bernon , Pierre Cerutti et al.
Angewandte Chemie International Edition, 2016, 55 (47), pp.14774-14777. ⟨10.1002/anie.201607824⟩
Journal articles istex hal-01606469v1

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Geraldine Mollet , David Schapiro , Marie-Claire Daugeron , Weizhen Tan , Olivier Gribouval et al.
Nature Genetics, 2017, ⟨10.1038/ng.3933⟩
Journal articles hal-02187752v1
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A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

Asmaa Mamoune , Michel Bahuau , Yamina Hamel , Valérie Serre , Michele Pelosi et al.
PLoS Genetics, 2014, 10 (11), pp.e1004711. ⟨10.1371/journal.pgen.1004711⟩
Journal articles hal-01342663v1
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Pregnancy in MNGIE: a clinical and metabolic honeymoon

Pauline Pappalardo , Jean‐françois Benoist , Bridget Bax , Clarisse Carra‐dallière , Cecilia Marelli et al.
Annals of Clinical and Translational Neurology, In press, ⟨10.1002/acn3.51202⟩
Journal articles hal-02995577v1
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Identification of Modulators of the C. elegans Aryl Hydrocarbon Receptor and Characterization of Transcriptomic and Metabolic AhR-1 Profiles

Lucie Larigot , Linh-Chi Bui , Marine de Bouvier , Ophélie Pierre , Grégory Pinon et al.
Antioxidants , 2022, 11 (5), pp.1030. ⟨10.3390/antiox11051030⟩
Journal articles hal-03745310v1

CTP synthetase activity assay by liquid chromatography tandem mass spectrometry in the multiple reaction monitoring mode

Anne-Claire Boschat , Norbert Minet , Emmanuel Martin , Robert Barouki , Sylvain Latour et al.
Journal of Mass Spectrometry, 2019, ⟨10.1002/jms.4442⟩
Journal articles hal-02391558v1
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Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation

Emmanuel Martin , Norbert Minet , Anne-Claire Boschat , Sylvia Sanquer , Steicy Sobrino et al.
JCI Insight, 2020, 5 (5), ⟨10.1172/jci.insight.133880⟩
Journal articles hal-02937426v1
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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Christelle C. Arrondel , Sophia Missoury , Rozemarijn Snoek , Julie Patat , Giulia Menara et al.
Nature Communications, 2019, 10 (1), pp.3967. ⟨10.1038/s41467-019-11951-x⟩
Journal articles inserm-02322309v1
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Identification of a new stilbene-derived inducer of paraoxonase 1 and ligand of the Aryl hydrocarbon Receptor.

Erwan Guyot , Xavier Coumoul , Jean-François Chassé , Farid Khallouki , Jean François Savouret et al.
Biochemical Pharmacology, 2012, 83 (5), pp.627-632. ⟨10.1016/j.bcp.2011.12.013⟩
Journal articles inserm-00743456v1
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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

Wladimir Mauhin , Olivier Benveniste , Damien Amelin , Clémence Montagner , Foudil Lamari et al.
PLoS ONE, 2020, 15 (5), pp.e0233460. ⟨10.1371/journal.pone.0233460⟩
Journal articles hal-02871577v1
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A driver role for GABA metabolism in controlling stem and proliferative cell state through GHB production in glioma

Elias A El-Habr , Gustavo Luiz Dubois , Fanny Burel-Vandenbos , Alexandra Bogeas , Joanna Lipecka et al.
Acta Neuropathologica, 2017, 133 (4), pp.645-660. ⟨10.1007/s00401-016-1659-5⟩
Journal articles inserm-01481051v1