List of works - Raphael Schiffmann

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

scientific article

Lamin B1 duplications cause autosomal dominant leukodystrophy

scientific article

Neuropathology provides clues to the pathophysiology of Gaucher disease

scientific article

Invited article: an MRI-based approach to the diagnosis of white matter disorders

scientific article published on February 2009

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

scientific article published in March 2002

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

scientific article

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

scientific article

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

scientific article

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

scientific article

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease

scientific article published in December 2003

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

scientific article

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

scientific article published in February 2005

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

scientific article published on 22 April 2003

Pediatric Fabry disease

scientific article

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease

scientific article published in September 2006

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

Fabry disease

scientific article published on 08 February 2009

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

scientific article published on 27 October 2011

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

scientific article published on 15 August 2008

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

scientific article

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement

scientific article published in February 2002

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

scientific article

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

scientific article

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

scientific article published on 3 August 2007

Early alterations of brain cellular energy homeostasis in Huntington disease models

journal article published in 2012

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

scientific article published in August 2003

Agalsidase alfa and kidney dysfunction in Fabry disease.

scientific article published on 08 April 2009

Case definition and classification of leukodystrophies and leukoencephalopathies

scientific article

Ovarian failure related to eukaryotic initiation factor 2B mutations

scientific article

The cerebral vasculopathy of Fabry disease.

scientific article published on 23 March 2007

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

scientific article

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

scientific article (publication date: October 2002)

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

scientific article

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

scientific article

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

scientific article

White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions

scientific article published in December 2003

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

scientific article

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

scientific article

A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease

scientific article published on July 12, 2011

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease

scientific article

Enzyme-replacement therapy for metabolic storage disorders

scientific article

The latest on leukodystrophies

scientific article published on April 2004

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

scientific article published on 29 November 2005

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.

scientific article published on 14 August 2014

Physiological characterization of neuropathy in Fabry's disease

scientific article published on 01 November 2002

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

scientific article published in March 2003

Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease.

scientific article published in June 2003

List of works by Raphael Schiffmann

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Lamin B1 duplications cause autosomal dominant leukodystrophy

Neuropathology provides clues to the pathophysiology of Gaucher disease

Invited article: an MRI-based approach to the diagnosis of white matter disorders

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

Novel (ovario) leukodystrophy related to AARS2 mutations

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

Pediatric Fabry disease

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

Fabry disease

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

Early alterations of brain cellular energy homeostasis in Huntington disease models

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Agalsidase alfa and kidney dysfunction in Fabry disease.

Case definition and classification of leukodystrophies and leukoencephalopathies

Ovarian failure related to eukaryotic initiation factor 2B mutations

The cerebral vasculopathy of Fabry disease.

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease

Enzyme-replacement therapy for metabolic storage disorders

The latest on leukodystrophies

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.

Physiological characterization of neuropathy in Fabry's disease

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease.