List of works - Thierry Billette de Villemeur

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy

scientific article

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

scientific article published on 21 March 2010

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis

scientific article published in January 2011

Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease

scientific article published on 3 December 2012

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

scientific article published on 31 October 2015

Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients

scientific article published in PLoS ONE

Astrocytic demise in the developing rat and human brain after hypoxic-ischemic damage

scientific article published on 11 August 2009

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

scientific article

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

scientific article

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Early neurological phenotype in 4 children with biallelic PRODH mutations

scientific article

Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease

scientific article published on 16 June 2017

Evaluation of quality of life in complete locked-in syndrome patients

scientific article published in November 2013

Evaluation of quality of life in individuals with severe chronic motor disability: A major challenge

scientific article

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood

scientific article published on 16 February 2014

French results of enzyme replacement therapy in Gaucher's disease

scientific article

Gaucher's disease

scientific article published in January 2002

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Herpes simplex virus encephalitis in human UNC-93B deficiency

scientific article

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

Impact of severe polyhandicap on parents' quality of life: A large French cross-sectional study

scientific article published in PLoS ONE

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

scientific article published in April 2009

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease

scientific article published on 5 January 2018

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).

scientific article published in March 2012

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

scientific article

MFN2, a new gene responsible for mitochondrial DNA depletion

scientific article published on 3 May 2012

Microcephaly: a radiological review

scientific article published on 13 May 2009

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

scientific article

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

scientific article

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

scientific article

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

scientific article published on 26 April 2012

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

scientific article published in January 2017

Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease

scientific article published on 14 October 2017

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

scientific article published on 19 July 2015

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

scientific article published on 22 May 2013

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.

scientific article published in January 2002

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

scientific article

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

scientific article

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

scientific article (publication date: March 2004)

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

scientific article

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

scientific article published on 16 February 2018

Type 3 Gaucher disease, diagnostic in adulthood

scientific article published on 11 July 2017

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease

scientific article

[Gaucher disease].

scientific article

List of works by Thierry Billette de Villemeur

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy

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

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis

Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients

Astrocytic demise in the developing rat and human brain after hypoxic-ischemic damage

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Early neurological phenotype in 4 children with biallelic PRODH mutations

Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease

Evaluation of quality of life in complete locked-in syndrome patients

Evaluation of quality of life in individuals with severe chronic motor disability: A major challenge

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood

French results of enzyme replacement therapy in Gaucher's disease

Gaucher's disease

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Herpes simplex virus encephalitis in human UNC-93B deficiency

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

Impact of severe polyhandicap on parents' quality of life: A large French cross-sectional study

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

MFN2, a new gene responsible for mitochondrial DNA depletion

Microcephaly: a radiological review

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

Type 3 Gaucher disease, diagnostic in adulthood

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease

[Gaucher disease].