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List of works by Raphael Schiffmann

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations

scientific article published in July 2012

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

scientific article

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

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome

scientific article published on 6 November 2017

A genetic form of achlorhydria and gastritis

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

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease

scientific article published on 22 April 2015

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

scientific article published on 14 August 2014

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease ⬇️

scientific article published on December 21, 2012

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

scientific article

Agalsidase alfa and kidney dysfunction in Fabry disease.

scientific article published on 08 April 2009

Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study

scientific article

Agalsidase treatment for Fabry disease: Uses and rivalries ⬇️

scientific article published on November 1, 2010

Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice

scientific article

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

scientific article published on 25 May 2016

Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa phase III BALANCE study

scholarly article

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.

scientific article published in April 2008

Arterial wall properties and Womersley flow in Fabry disease

scientific article

Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study

scientific article published in October 2004

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

scientific article published on 31 August 2020

Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

scientific article published on 30 September 2020

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

scientific article

BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases

scientific article published on 27 September 2016

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Biomarkers of Fabry disease nephropathy

scientific article published on 5 November 2009

Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice

scientific article

Brain MRI and motor function in leukodystrophies

scientific article published on 20 July 2016

Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease

scientific article published on 02 November 2020

CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations

scientific article

CSF and Blood Levels of GFAP in Alexander Disease

scientific article

Case definition and classification of leukodystrophies and leukoencephalopathies

scientific article

Cellular and tissue distribution of intravenously administered agalsidase alfa

scientific article published on 22 December 2006

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

scientific article published on 3 August 2007

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

scientific article published on 28 September 2020

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider

scientific article published on 07 December 2018

Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa

scientific article published on 16 May 2013

Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid

scientific article published on February 2012

Characterization of epilepsy in a large Egyptian Gaucher disease type 3 (GD3) cohort: A 12-year prospective study

scholarly article

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy

scientific article

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

scientific article published on 4 April 2019

Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article

Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease

scientific article published on 14 February 2008

Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

scientific article published on 20 November 2020

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

scientific article (publication date: October 2002)

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

scientific article published on 04 August 2020

Decision support for diagnosis: co-evolution of tools and resources

scientific article published on 18 April 2012

Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease

scientific article

Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy

scientific article

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

scientific article

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

scientific article published on 01 April 2015

Development of enzyme replacement therapy for Fabry disease ⬇️

scientific article published on February 4, 2011

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

scientific article (publication date: 2012)

Diagnosis, prognosis, and treatment of leukodystrophies

scientific article published on 12 July 2019

Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging

scientific article published in July 2003

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

Dysregulated DNA methylation in the pathogenesis of Fabry disease

scholarly article

Dystonia in RNA Polymerase III-Related Leukodystrophy

scientific article published on 09 January 2019

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review

scientific article published on 20 October 2020

Early alterations of brain cellular energy homeostasis in Huntington disease models

journal article published in 2012

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative

scientific article published on 10 October 2020

Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis

scientific article published in September 2009

Effect of genetic modifiers on cerebral lesions in Fabry disease

scientific article published in June 2005

Effects of genetic background on disease phenotypes in a mouse model of Fabry disease

scholarly article

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

scientific article

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

scientific article published in February 2002

Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapy

scientific article published on 01 July 2007

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

scientific article published on 01 October 2020

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

scientific article published in February 2005

Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents

scientific article published on 13 August 2007

Enzyme replacement in Fabry disease: the essence is in the kidney

scientific article published on 18 December 2006

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

scientific article

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease

scientific article

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

scientific article published in December 2003

Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease

scientific article published in January 2007

Enzyme-replacement therapy for metabolic storage disorders

scientific article

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

scientific article published in September 2006

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

scientific article published on 01 January 2017

Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.

scientific article

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders

scientific article

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

scientific article

Fabry Disease: A Disorder of Childhood Onset

scientific article

Fabry disease

Fabry disease

scientific article published on 08 February 2009

Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model

scientific article published on April 2006

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

scientific article published on 30 September 2019

Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function

scientific article published on 01 July 2005

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

scientific article

Fabry's disease--an important risk factor for stroke

scientific article published in November 2005

Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3).

scientific article published on 31 January 2009

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

scientific article published on 01 January 2002

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease

scientific article published on 25 January 2010

Free sialic acid storage disease without sialuria

scientific article

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

scientific article

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

scientific article published on 25 April 2019

Gaucher disease: Progress and ongoing challenges

scientific article published on 17 November 2016

Gaucher mutation N188S is associated with myoclonic epilepsy

scientific article published on 01 September 2005

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

article

Genome sequencing in persistently unsolved white matter disorders

scientific article published on 07 January 2020

Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach

scholarly article

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

scientific article

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

scientific article published on 15 August 2008

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

scientific article published on 22 April 2003

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

scientific article

HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner

scientific article

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

scientific article published on 18 June 2019

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

scientific article published on 09 April 2018

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

scientific article

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

scientific article

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease

scientific article

Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain

scientific article published in 2005

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

scientific article published in June 2003

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

scientific article

Investigating Fabry disease - some lessons learned

scholarly article

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

scientific article published on February 2009

Is it Fabry disease?

scientific article published on 19 May 2016

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance

scientific article

Lamin B1 duplications cause autosomal dominant leukodystrophy

scientific article

Leukodystrophy Overview

Leukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNA

scientific article published on 21 March 2019

Leukoencephalopathy: "Before concluding treatment efficacy...".

scientific article published on 19 December 2014

Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt

scientific article published on 25 February 2016

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

scientific article

Low frequency of Fabry disease in patients with common heart disease

scientific article published on 26 October 2017

MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains.

scientific article

Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice

scientific article published on 27 August 2015

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

scientific article

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

scientific article

Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice

scientific article published on 10 March 2016

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

scientific article published on 01 February 2009

More than hypomyelination in Pol-III disorder

scientific article published on January 2013

Mucolipidosis IV

scientific article published on 30 July 2015

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

scientific article

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

scientific article published on 29 August 2016

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415.

scientific article

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

scientific article

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

scientific article published in March 2003

Myoclonus in Gaucher disease

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

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

scientific article

Neurological effects of enzyme replacement therapy in Fabry disease ⬇️

scientific article published on February 4, 2011

Neurological manifestations of Fabry disease ⬇️

scientific article published on February 4, 2011

Neuropathology provides clues to the pathophysiology of Gaucher disease

scientific article

Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy

scientific article published on June 2006

New prospects for the treatment of lysosomal storage diseases

scientific article

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

scientific article

Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.

scientific article published in March 2002

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

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

scientific article published in January 2017

Once every 4 weeks - 2 mg/kg of pegunigalsidase alfa for treating Fabry disease Preliminary results of a phase 3 study

scholarly article

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

scientific article

Ovarian failure related to eukaryotic initiation factor 2B mutations

scientific article

Oxidative stress reflected by increased F2-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B2 levels in patients with coronary artery disease

scientific article published on 26 October 2016

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

scientific article published on 17 January 2006

Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease

scientific article published in September 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

Pediatric Fabry disease

scientific article

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial

scientific article published on 08 April 2019

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

scientific article published in August 2003

Physiological characterization of neuropathy in Fabry's disease

scientific article published on 01 November 2002

Possible future therapies for Fabry disease ⬇️

scientific article published on February 4, 2011

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

scientific article published on September 2008

Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression

scientific article published on 6 November 2017

Prognostic value of urinary 11-dehydro-thromboxane B2 for mortality: A cohort study of stable coronary artery disease patients treated with aspirin

scientific article published on 29 November 2017

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

scholarly article

Quantitative dysmorphology assessment in Fabry disease

scientific article published in February 2006

Quantitative neuroimaging in mucolipidosis type IV.

scientific article

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

scientific article published on 28 April 2020

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

scientific article

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

scientific article published on 27 October 2011

Reply: To PMID 23034915.

scientific article published in February 2013

Residual thromboxane activity and oxidative stress: influence on mortality in patients with stable coronary artery disease

scientific article published on 21 December 2016

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide

scientific article published on 04 February 2014

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

scientific article published on 12 November 2016

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

scientific article published on 28 March 2019

Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

scientific article

Screening for pharmacological chaperones in Fabry disease

scientific article published on 22 May 2007

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

scientific article published on 18 December 2016

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

scientific article

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications

scientific article published on 16 September 2011

Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study

scientific article

Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey

scientific article published on 21 August 2019

TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.

scientific article

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

scientific article

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

scientific article published on 2 February 2017

The cerebral vasculopathy of Fabry disease.

scientific article published on 23 March 2007

The consequences of genetic and pharmacologic reduction in sphingolipid synthesis

scientific article

The definition of neuronopathic Gaucher disease

scientific article published on 03 April 2020

The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells

scientific article published on 30 April 2019

The latest on leukodystrophies

scientific article published on April 2004

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease

scientific article published on 19 July 2019

The natural history of cognition in Gaucher disease type 3

scholarly article

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

scientific article

The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease

scientific article published on 01 August 2007

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

The saccadic and neurological deficits in type 3 Gaucher disease

scientific article

The significance of lysosomal inclusions in Fabry disease

scientific article published on 12 April 2006

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

scientific article

Therapeutic approaches for neuronopathic lysosomal storage disorders

scientific article published on 17 February 2010

Time series proteome profiling to study endoplasmic reticulum stress response.

scientific article

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

scientific article published in December 2004

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

scientific article

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

scientific article published on 3 November 2015

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

scientific article

Unique molecular signature in mucolipidosis type IV microglia

scientific article published on 28 December 2019

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

scientific article

Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease

scientific article published on 5 January 2017

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

scientific article

Variation in cognitive function over time in Gaucher disease type 3

scientific article published on 12 November 2019

Venglustat in adult Gaucher disease type 3: Preliminary safety, pharmacology, and exploratory efficacy from a phase 2 trial in combination with imiglucerase (LEAP)

scholarly 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

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

scientific article published in December 2003

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

scientific article

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