Patrick Aubourg

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

52h-index12.3kcitations145works59.02yr avg
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Research Topics

Peroxisome Proliferator-Activated Receptors(94), Metabolism and Genetic Disorders(45), Adipose Tissue and Metabolism(30), RNA regulation and disease(23), Virus-based gene therapy research(12)

Publications145 total

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
New England Journal of Medicine·2024· 59 citedOpen Access
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
EBioMedicine·2023· 30 citedOpen Access
Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy
Annals of the Child Neurology Society·2023· 2 citedOpen Access
Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?
Molecular Therapy — Methods & Clinical Development·2020· 121 citedOpen Access
Mutation ephb4 responsable de malformation anévrysmale de la veine de Galien
Journal of Neuroradiology·2019
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation
Biology of Blood and Marrow Transplantation·2018· 138 citedOpen Access
Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype
Elsevier eBooks·2018· 1 cited
Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype
Cell Reports·2018· 44 citedOpen Access
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation
Brain·2018· 65 citedOpen Access
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
New England Journal of Medicine·2017· 575 citedOpen Access
Efficient CNS targeting in adult mice by intrathecal infusion of single-stranded AAV9-GFP for gene therapy of neurological disorders
Gene Therapy·2017· 71 cited
Targeted exomes reveal simultaneous <i><scp>MFN</scp>2</i> and <i><scp>GDAP</scp>1</i> mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype
European Journal of Neurology·2017· 8 cited
Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype
Neuromuscular Disorders·2016· 1 cited
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2016· 29 cited
Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open: Figure 1
Brain·2015· 14 cited
Time resolved optical detection for white matter lesion detection: preclinical tests on macaque brains and MRI co-registration
Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE·2015
Time Resolved optical detection for white matter lesion detection: preclinical tests on macaque brains and MRI co-registration.
2015
Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients
Brain·2014· 73 citedOpen Access
Comparative Efficacy and Safety of Multiple Routes of Direct CNS Administration of Adeno-Associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human Arylsulfatase A cDNA to Nonhuman Primates
Human Gene Therapy Clinical Development·2014· 59 citedOpen Access
0300: Systemic delivery of AAVrh10 expressing frataxin corrects the severe mitochondrial cardiomyopathy of frataxin deficient mice
Archives of Cardiovascular Diseases Supplements·2014
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Frequent Co-authors

Nathalie Cartier(10), Jean‐Louis Mandel(8), Caroline Sevin(7), Alain Fischer(5), F. Rocchiccioli(5), Aurora Pujol(5), Jean Mosser(4), Claude‐Olivier Sarde(4), Paul J. Orchard(4), Ronald J. A. Wanders(4), Michel Vidaud(3), Stéphane Blanche(3), Marina Cavazzana(3), Hugo W. Moser(3), Troy C. Lund(3), Daniel J. Loes(3), Isabelle Jambaqué(3), Pierre-François Bougnères(3), Laurence Dubreil(3), Françoise Fouquet(3)