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Efficient derivation of microglia-like cells from human pluripotent stem cells

Nature medicine, 2016-11, Vol.22 (11), p.1358-1367

2016

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Hematopoietic Stem Cell Transplantation and Hematopoietic Stem Cell Gene Therapy in X-Linked Adrenoleukodystrophy

Brain pathology (Zurich, Switzerland), 2010-07, Vol.20 (4), p.857-862

2010

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CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease

Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.953-970

2016

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General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy

Brain pathology (Zurich, Switzerland), 2010-07, Vol.20 (4), p.817-830

2010

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CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2383-2398

2015

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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.51-51

2012

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7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD

The Journal of steroid biochemistry and molecular biology, 2017-05, Vol.169, p.123-136

2017

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Gene therapy for metachromatic leukodystrophy

Journal of neuroscience research, 2016-11, Vol.94 (11), p.1169-1179

2016

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Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

Nature communications, 2021-03, Vol.12 (1), p.1816-10, Article 1816

2021

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AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A

Nature communications, 2021-04, Vol.12 (1), p.2356-2356, Article 2356

2021

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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

Brain (London, England : 1878), 2014-03, Vol.137 (Pt 3), p.693-706

2014

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Case definition and classification of leukodystrophies and leukoencephalopathies

Molecular genetics and metabolism, 2015-04, Vol.114 (4), p.494-500

2015

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Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

Brain (London, England : 1878), 2018-04, Vol.141 (4), p.979-988

2018

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Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy

Brain (London, England : 1878), 2017-04, Vol.140 (4), p.953-966

2017

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Peroxisomes, Myelination, and Axonal Integrity in the CNS

The Neuroscientist, 2009-08, Vol.15 (4), p.367-379

2009

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Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.859-868

2013

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Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype

Cell reports (Cambridge), 2018-10, Vol.25 (2), p.368-382.e5

2018

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Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999

Blood, 2004-08, Vol.104 (3), p.881-888

2004

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Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy

Brain pathology (Zurich, Switzerland), 2010-07, Vol.20 (4), p.845-856

2010

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Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.771-784

2020

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Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice

Human gene therapy, 2012-08, Vol.23 (8), p.903-914

2012

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Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open

Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.3133-3136

Aubourg, Patrick

2015

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Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

Human molecular genetics, 2012-03, Vol.21 (5), p.1062-1077

2012

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X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

Biochimica et biophysica acta, 2012-09, Vol.1822 (9), p.1465-1474

2012

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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Orphanet journal of rare diseases, 2011-03, Vol.6 (1), p.8-8, Article 8

2011

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Efficient derivation of microglia-like cells from human pluripotent stem cells

Hematopoietic Stem Cell Transplantation and Hematopoietic Stem Cell Gene Therapy in X-Linked Adrenoleukodystrophy

CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease

General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy

CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD

Gene therapy for metachromatic leukodystrophy

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

Case definition and classification of leukodystrophies and leukoencephalopathies

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy

Peroxisomes, Myelination, and Axonal Integrity in the CNS

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype

Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999

Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy

Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?

Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice

Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open

Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

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