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Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Developmental medicine and child neurology, 2020-04, Vol.62 (4), p.528-530

2020

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Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation

Biochimica et biophysica acta, 2013-08, Vol.1832 (8), p.1194-1206

2013

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Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Cell reports (Cambridge), 2018-06, Vol.23 (13), p.3813-3826

2018

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Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

Human molecular genetics, 2018-03, Vol.27 (6), p.954-968

2018

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canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (33), p.14775-14780

2010

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Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

Gene, 2013-01, Vol.512 (2), p.521-526

2013

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Rapid identification of HEXA mutations in Tay-Sachs patients

Biochemical and biophysical research communications, 2010-02, Vol.392 (4), p.599-602

2010

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Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

American journal of human genetics, 1998-08, Vol.63 (2), p.415-427

1998

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Adenovirus-Mediated Transfer of the Acid α-Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Expression of Enzyme and Corrects Glycogen Accumulation

Human molecular genetics, 1998-10, Vol.7 (11), p.1695-1702

1998

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Prevention of neuropathology in the mouse model of hurler syndrome

Annals of neurology, 2004-07, Vol.56 (1), p.68-76

2004

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A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (33), p.14775-80

2010

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Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients

Biochemical and biophysical research communications, 1997-06, Vol.235 (1), p.138-141

1997

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Use of prostate systematic and targeted biopsy on the basis of multiparametric MRI in biopsy-naive patients (MRI-FIRST): a prospective, multicentre, paired diagnostic study

The lancet oncology, 2019-01, Vol.20 (1), p.100-109

2019

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Quels défis au développement de la production porcine en agriculture biologique en France ?

INRAE productions animales (En ligne), 2024-07, p.7398

2024

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Expression of the putative tumor suppressor gene PTPN13/PTPL1 is an independent prognostic marker for overall survival in breast cancer

International journal of cancer, 2009-02, Vol.124 (3), p.638-643

2009

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NG2 and Olig2 Expression Provides Evidence for Phenotypic Deregulation of Cultured Central Nervous System and Peripheral Nervous System Neural Precursor Cells

Stem cells (Dayton, Ohio), 2007-02, Vol.25 (2), p.340-353

2007

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Binary Active Contours using both inside and outside texture descriptors

2012 3rd International Conference on Image Processing Theory, Tools and Applications (IPTA), 2012, p.325-329

2012

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Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

Rapid identification of HEXA mutations in Tay-Sachs patients

Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

Adenovirus-Mediated Transfer of the Acid α-Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Expression of Enzyme and Corrects Glycogen Accumulation

Prevention of neuropathology in the mouse model of hurler syndrome

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients

Use of prostate systematic and targeted biopsy on the basis of multiparametric MRI in biopsy-naive patients (MRI-FIRST): a prospective, multicentre, paired diagnostic study

Relevance of Brain Regions' Eloquence Assessment in Patients With a Large Ischemic Core Treated With Mechanical Thrombectomy

Quels défis au développement de la production porcine en agriculture biologique en France ?

Expression of the putative tumor suppressor gene PTPN13/PTPL1 is an independent prognostic marker for overall survival in breast cancer

NG2 and Olig2 Expression Provides Evidence for Phenotypic Deregulation of Cultured Central Nervous System and Peripheral Nervous System Neural Precursor Cells

Binary Active Contours using both inside and outside texture descriptors

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