C. Caillaud

发表

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

J. Stirnemann, N. Belmatoug, F. Camou, 2017, International journal of molecular sciences.

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

G. Bassez, P. Carlier, P. Laforêt, 2003, Neuromuscular Disorders.

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

A. Munnich, S. Lyonnet, C. Caillaud, 1991, American journal of human genetics.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

B. Drénou, S. Coutant, N. Elçioglu, 2021, Journal of Medical Genetics.

Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses

C. Caillaud, T. Levade, M. Vanier, 2016 .

Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses

C. Caillaud, M. Vanier, 2012 .

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β‐galactosidase

U. Ramaswami, B. Plecko, C. Caillaud, 2009, Human mutation.

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

M. Vidailhet, D. Galanaud, Kunihiro Yoshida, 2005, Movement disorders : official journal of the Movement Disorder Society.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

H. Mandel, A. Reuser, D. Bali, 2008, Molecular genetics and metabolism.

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

F. Sedel, B. Grosbois, D. Hamroun, 2012, Orphanet Journal of Rare Diseases.

Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease

I. Nishino, F. Protasi, K. Guan, 2013, EMBO molecular medicine.

Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase α and β

E. Richard, A. Futerman, C. Caillaud, 2006 .

Lysosomal Serine Protease CLN2 Regulates Tumor Necrosis Factor-α-mediated Apoptosis in a Bid-dependent Manner*

N. Therville, C. Caillaud, T. Levade, 2009, Journal of Biological Chemistry.

Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease.

C. Caillaud, A. Crăciun, P. Grigorescu-Sido, 2002, Blood cells, molecules & diseases.

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

S. Dréano, F. Pilot-Storck, J. Thibaud, 2010, Proceedings of the National Academy of Sciences.

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

A. Kahn, C. Caillaud, L. Poenaru, 1998, American journal of human genetics.

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

I. Durieu, B. Hivert, J. Stirnemann, 2020, Journal of clinical medicine.

Respiratory insufficiency and limb muscle weakness in adults with Pompe’s disease

D. Orlikowski, P. Laforêt, B. Eymard, 2005, European Respiratory Journal.

Adenoviral Vector as a Gene Delivery System into Cultured Rat Neuronal and Glial Cells

M. Perricaudet, Y. Berwald‐Netter, A. Koulakoff, 1993, The European journal of neuroscience.

Atypical Gilles de la Tourette Syndrome With β-Mannosidase Deficiency

Y. Agid, A. Durr, F. Sedel, 2006 .

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

Y. Agid, F. Sedel, A. Dürr, 2006, Archives of neurology.

Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry

F. Chapon, T. Perez, G. Bassez, 2020, Journal of inherited metabolic disease.

Mannose 6‐phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease

B. Schoser, M. Maynadier, Marcel Garcia, 2019, Journal of cellular and molecular medicine.

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

F. Chapon, G. Bassez, D. Orlikowski, 2016, Scientific Reports.

Prevention of neuropathology in the mouse model of hurler syndrome

C. Caillaud, M. Vanier, J. Heard, 2004, Annals of neurology.

Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?

A. Mégarbané, C. Caillaud, A. Cassia, 2003, American journal of medical genetics. Part A.

Efficient therapy for refractory Pompe disease by mannose 6‐phosphate analogue grafting on acid &agr;‐glucosidase

B. Pau, M. Maynadier, Marcel Garcia, 2018, Journal of controlled release : official journal of the Controlled Release Society.

CpG dinucleotides are mutation hot spots in phenylketonuria.

A. Munnich, S. Lyonnet, C. Caillaud, 1989, Genomics.

Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of α‐glucosidase in Pompe disease

E. Richard, C. Caillaud, L. Batista, 2009, The journal of gene medicine.

Correction of glycogenosis type 2 by muscle-specific lentiviral vector

E. Richard, C. Caillaud, L. Batista, 2008, In Vitro Cellular & Developmental Biology - Animal.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

C. Duyckaerts, A. Durr, F. Lamari, 2019, Brain : a journal of neurology.

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

S. Lyonnet, J. Frézal, J. Saudubray, 1991, Human Genetics.

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

F. Jamme, M. Fusellier, C. Caillaud, 2017, Acta Neuropathologica Communications.

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

A. Munnich, S. Lyonnet, J. Frézal, 1989, American journal of human genetics.

The pulvinar sign: frequency and clinical correlations in Fabry disease

I. Klein, R. Manara, M. Severino, 2008, Journal of Neurology.

Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women

P. Arnaud, C. Caillaud, T. Papo, 2008, European Journal of Clinical Pharmacology.

Molecular basis of phenylketonuria in France

A. Munnich, S. Lyonnet, C. Caillaud, 1993 .

Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

T. Maisonobe, R. Jaussaud, A. Mehta, 2006, International journal of clinical practice.

Juvenile and adult-onset acid maltase deficiency in France

P. Laforêt, B. Eymard, M. Fardeau, 2000, Neurology.

[Molecular diagnosis of Gaucher disease in Tunisia].

S. Abdelhak, C. Caillaud, O. Amaral, 2013, Pathologie-biologie.

Design of Potent Mannose 6-Phosphate Analogues for the Functionalization of Lysosomal Enzymes To Improve the Treatment of Pompe Disease.

M. Maynadier, Marcel Garcia, C. Caillaud, 2016, Angewandte Chemie.

New insights into therapeutic options for Pompe disease

E. Richard, C. Caillaud, G. Douillard-Guilloux, 2011, IUBMB life.

Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: a new tool to study pathophysiology and assess therapeutic strategies for Pompe disease.

E. Richard, V. Mouly, C. Caillaud, 2009, Biochemical and biophysical research communications.

Making diagnosis of Pompe disease at a presymptomatic stage: To treat or not to treat?

R. Carlier, J. Hogrel, P. Laforêt, 2011, Neurology.

Rigid spine syndrome revealing late-onset Pompe disease

K. Claeys, P. Laforêt, B. Eymard, 2010, Neuromuscular Disorders.

Widespread distribution of β-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol

A. Orlacchio, C. Emiliani, A. Gelot, 2003, Gene Therapy.

Identification of three novel mutations in Romanian patients with Fabry disease

C. Caillaud, C. Drugan, J. Puech, 2012 .

Aseptic meningitis and ischaemic stroke in Fabry disease

N. Baumann, F. Sedel, I. Klein, 2009, International journal of clinical practice.

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal

A. Munnich, S. Lyonnet, L. Vilarinho, 1992, Human Genetics.

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

A. Munnich, S. Lyonnet, J. Frézal, 1988, American journal of human genetics.

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

F. Lamari, D. Lacombe, B. Dussol, 2020, PloS one.

Induced secretion of β-hexosaminidase by human brain endothelial cells: A novel approach in Sandhoff disease?

P. Couraud, F. Miller, C. Caillaud, 2010, Neurobiology of Disease.

Transfer of a foreign gene into the brain using adenovirus vectors

M. Perricaudet, M. Peschanski, A. Kahn, 1993, Nature Genetics.

Gene therapy in lysosomal diseases.

C. Caillaud, L. Poenaru, 2000, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

A. Munnich, S. Lyonnet, J. Saudubray, 1992, Archives francaises de pediatrie.

Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

C. Caillaud, A. Crăciun, T. Drugan, 2017 .

Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease

V. Vanneaux, J. Larghero, N. Boiret-Dupré, 2010, British journal of haematology.

Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations

C. Caillaud, L. Poenaru, L. Procopciuc, 2002, European Journal of Human Genetics.

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

N. Boddaert, S. Pannier, D. Lacombe, 2022, Bone Marrow Transplantation.

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

J. Stirnemann, N. Belmatoug, F. Camou, 2018, Clinical Pharmacokinetics.

Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts

C. Emiliani, E. Chiricozzi, N. Loberto, 2013, Molecular Neurobiology.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

R. Froissart, C. Caillaud, M. Pettazzoni, 2017, Rapid communications in mass spectrometry : RCM.

Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.

N McDonell, A. Kahn, C. Caillaud, 1999, Human molecular genetics.

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

J. Cooper, C. Caillaud, M. Vanier, 2018, Human molecular genetics.

Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts

C. Emiliani, E. Chiricozzi, N. Loberto, 2014, Molecular Neurobiology.

GUTHRIE CARDS FOR DETECTION OF POINT MUTATIONS IN PHENYLKETONURIA

A. Munnich, S. Lyonnet, J. Frézal, 1988, The Lancet.

Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

C. Caillaud, K. Boussetta, S. Bousnina, 2008 .

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

N. Boddaert, P. Sonigo, C. Bole-Feysot, 2021, Birth defects research.

Neuronal ceroid lipofuscinoses.

B. Minassian, C. Caillaud, B. Chabrol, 2013, Handbook of clinical neurology.

Lentiviral vector delivery of shRNA into cultured primary myogenic cells: a tool for therapeutic target validation.

E. Richard, C. Caillaud, G. Douillard-Guilloux, 2011, Methods in molecular biology.

In vivo transfer of a marker gene to study motoneuronal development.

M. Peschanski, F. Lisovoski, A. Kahn, 1994, Neuroreport.

Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene

A. Kahn, C. Caillaud, F. Letourneur, 1997, Human mutation.

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

N. Risch, B. Gelb, R. Desnick, 2000, American journal of human genetics.

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

A. Durr, B. Colsch, A. Brice, 2003, Cell reports.

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

A. Mégarbané, F. Hamdan, J. Michaud, 2015, European journal of medical genetics.

Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?

E. Chouery, A. Mégarbané, C. Caillaud, 2008, American journal of medical genetics. Part A.

Natural History of Adult Patients with GM2 Gangliosidosis

F. Lamari, F. Ory-Magne, C. Goizet, 2020 .

Rapid identification of HEXA mutations in Tay-Sachs patients.

C. Caillaud, F. Feillet, J. Puech, 2010, Biochemical and biophysical research communications.

Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

C. Caillaud, H. Azzouz, A. B. Chehida, 2009, Journal of Perinatology.

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

A. Mégarbané, L. Mourey, A. Verloes, 2015, Orphanet Journal of Rare Diseases.

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

C. Caillaud, P. Gaignard, J. Fagart, 2013, Gene.

[Principles of therapeutic approaches for mucopolysaccharidoses].

C. Caillaud, 2014, Archives de pédiatrie.

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

D. Zafeiriou, O. Danos, M. Tardieu, 2011, American journal of medical genetics. Part A.

An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient

C. Caillaud, M. Vanier, K. Boussetta, 2010, Journal of child neurology.

Gene delivery into the central nervous system by nasal instillation in rats.

A. Kahn, A. Pavirani, C. Caillaud, 1995, Gene therapy.

Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.

A. Mégarbané, J. Loiselet, A. Rötig, 1999, American journal of medical genetics.

Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.

E. Richard, N. Raben, C. Caillaud, 2008, Human molecular genetics.

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

F. Jamme, M. Fusellier, C. Caillaud, 2017, Acta neuropathologica communications.

Sleep‐disordered breathing in children with mucolipidosis

V. Cormier-Daire, C. Caillaud, A. Brassier, 2019, American journal of medical genetics. Part A.

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

D. Annane, H. Chabriat, D. Orlikowski, 2008, Neurology.

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

E. Richard, P. Roach, N. Raben, 2010, Human molecular genetics.

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

D. Orlikowski, D. Hamroun, A. Echaniz-Laguna, 2018, Journal of Inherited Metabolic Disease.

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

F. Lamari, D. Lacombe, E. Hachulla, 2018, Orphanet Journal of Rare Diseases.

Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiency.

V. Vanneaux, J. Larghero, C. Chomienne, 2012, Stem cells and development.

A Prospective Study of Bone Marrow Hematopoietic and Mesenchymal Stem Cells in Type 1 Gaucher Disease Patients

R. Porcher, V. Vanneaux, J. Larghero, 2013, PloS one.

Bone and joint involvement in Fabry disease

C. Caillaud, T. Papo, K. Sacré, 2010, Scandinavian journal of rheumatology.

Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts

A. Orlacchio, C. Emiliani, S. Sonnino, 2005, Neurobiology of Disease.

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.

F. Lamari, B. Dauriat, D. Bonnefont-Rousselot, 2022, Molecular genetics and metabolism.

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.

L. Hertz-Pannier, J. Saudubray, C. Caillaud, 2003, AJNR. American journal of neuroradiology.

Unusual Presentation of GM 2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl

L. Hertz-Pannier, J. Saudubray, C. Caillaud, 2003 .

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

F. Sedel, J. Stirnemann, N. Belmatoug, 2011, Brain and Development.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

N. Boddaert, R. Lifton, S. Saunier, 2015, Journal of Medical Genetics.

First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease

B. Dussol, J. Goujon, C. Caillaud, 2020, BMC Medical Genetics.

Identification of a novel de novo mutation (G373D) in the α‐galactosidase A gene (GLA) in a patient affected with Fabry disease

K. Azibi, F. Fellmann, C. Caillaud, 2001 .

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

S. Auvin, I. Desguerre, R. Froissart, 2023, Journal of inherited metabolic disease.

Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.

E. Richard, A. Futerman, C. Caillaud, 2006, Journal of neurochemistry.

Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model

B. Fantin, J. Stirnemann, N. Belmatoug, 2014, Orphanet Journal of Rare Diseases.

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature

A. Mégarbané, C. Caillaud, M. le Merrer, 2004, American journal of medical genetics. Part A.

PERINATAL/NEONATAL CASE PRESENTATION Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

C. Caillaud, H. Azzouz, A. B. Chehida, 2009 .

Multimodality evoked potentials and EEG in a case of cherry red spot-myoclonus syndrome and alpha-neuraminidase deficiency (sialidosis type 1)

B. Elie, C. Caillaud, B. Nogues, 1995, European Neurology.

Juvenile and adult-onset acid maltase deficiency in France: Genotype–phenotype correlation

P. Laforêt, B. Eymard, A. Reuser, 2001, Neurology.

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

F. Rivier, J. Lefranc, G. Touati, 2023, European journal of neurology.

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

C. Barnérias, I. Desguerre, M. Hully, 2023, Molecular genetics and metabolism.

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

A. Mégarbané, M. Mezzina, C. Caillaud, 1999, Journal of medical genetics.

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

B. Ilharreborde, A. Verloes, V. El Ghouzzi, 2012, European journal of medical genetics.

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

S. Auvin, A. Gelot, B. Dozières-Puyravel, 2020, Developmental Medicine & Child Neurology.

Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of α‐glucosidase in Pompe disease

E. Richard, C. Caillaud, L. Batista, 2009, The journal of gene medicine.

New insights into therapeutic options for Pompe disease

E. Richard, C. Caillaud, G. Douillard-Guilloux, 2011, IUBMB life.