RaphaelSchiffmannMD

PubMed

• Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP).
  Raphael Schiffmann, Eugen Mengel, Mary Wallace, Camille Rochmann, James Turnbull
  Advances in Therapy. 2024-07-01
• 2 citations
  GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system.
  Jyoti Asundi, Chunlian Zhang, Diana Donnelly-Roberts, Josè Zavala Solorio, Malleswari Challagundla
  CNS Neuroscience & Therapeutics. 2024-02-01
• 2 citations
  Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease.
  Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, Rachel Y Cheong, Lone Bruhn Madsen
  JIMD Reports. 2023-11-01

Journal Articles

• Health-Related Quality of Life for Patients with Genetically Determined Leukoencephalopathy  
  Adeline Vanderver, Raphael Schiffmann, Pediatric Neurology
• Enzymatic and functional correction alson with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derrived from pat...  
  Takenaka T, Hendrickson CS, Tworek DM, Tudor M, Schiffmann R, Brady RO, Medin JA, Exp Hematol
• Profile of endothelial and leukocyte activations in Fabry's patients.  
  DeGraba TJ, Azhar S, Dignat-George F, Brown E, Wolcott K, Schiffmann R, Ann Neurol
• Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: In vivo detection of transduced cells without myeloablation.  
  Dunbar CE, Kohn DB, Schiffmann R, Barton NW, Nolta JA, Esplin JA, Pensiero M, Long Z, Lockey C, Emmons RVB, Csik S, Leitman S, Kreps CB, Carter C, Brady RO, Karlsson S, Human Gene Therapy
• Quantitative analysis of epidermal innervation in Fabry's disease and comparison with sural nerve morphometry.  
  Scott LJC, Griffin JW, Barton NW, Banerjee T, Crawford T, Luciano CA, McArthur JC, Tournay, A, Schiffmann, R, Neurology
• Diffuse central neuronal involvement in Fabry disease: a proton magnetic spectroscopic imaging study.  
  Tedeschi G, Bonavita S, Banarjee TK, Virta A, Schiffmann R, Neurology
• Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.  
  Ohshima T, Schiffmann R, Murray GJ, Ward JM, Kopp J, Quirk JM, Stahl S, Chan C-Czerfas P, Tao-Cheng J-H, Brady RO, Kulkarni AB, Proc Natl Acad Sci USA
• Lysosomal inclusions in gastric parietal cells in mucolipidosis type iv-a novel cause of achlorhydria and hypergastrinemia.  
  Lubensky IA, Schiffmann R, Goldin E, Tsokos M, Am J Surg Pathol
• Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotype.  
  Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella J, Am J Hum Genet
• Mucolipidosis IV consists of one complementation group.  
  Goldin E, Cooney A, Kaneski C, Brady RO, Schiffmann R, Proc Natl Acad Sci USA
• Leukodystrophy in patients with ovarian dysgenesis.  
  Schiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA, Ann Neurol
• Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher disease.  
  Schiffmann R, Heyes, MP, Aerts JM, Dambrosia JM, Patterson MC, DeGraba T, Parker CC, Zirzow GC, Oliver K, Tedeschi G, Brady RO, Barton NW, Ann Neurol
• Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.  
  Brady RO, Murray GJ, Oliver KL, Leitman SF, Sneller MC, Fleisher TA, McKee MA, Parker CC, Schiffmann R, Barton NW, Pediatrics
• Constitutive achlorhydria in mucolipidosis type IV.  
  Schiffmann R, Dwyer NP, Lubensky IL, Tsokos M, Sutliff VE, Latimer JS, Frei KP, Brady RO, Barton NW, Blanchette-Mackie EJ, Goldin E, Proc Natl Acad Sci USA
• Electroencephalographic findings in patients with mucolipidosis type IV.  
  Oletsky H, Frei K, Greenfield J, Schiffmann R, Sato S, J Clin Electroenceph Neurophysiol
• Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease.  
  Tedeschi G, Bonavita S, Barton NW, Bertolino A, Frank Patronas NJ, Alger JR, Schiffmann R, J Neurosurg Neurol Psychiatr
• Quantitative analysis of cerebral vasculopathy in Fabry disease patients.  
  Crutchfield KE, Patronas NJ, Dambrosia JM, Frei KP, Banerjee TK, Barton NW, Schiffmann R, Neurology
• Mucolipidosis type IV: Characteristic MRI findings.  
  Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R, Neurology
• Niemann-Pick Type C Disease. From Bench to Bedside.  
  Schiffmann R, JAMA
• Clinical Protocol: Retroviral mediated transfer of the cDNA for human glucocerebrosidase into hematopoietic stem cells of patients with Gaucher disease.  
  Dunbar C, Kohn D, Karlsson S, Barton N, Brady R, Cottler-Fox M, Crooks G, Emmons R, Esplin J, Leitman S, Lenarsky C, Nolta J, Parkman R, Pensiero M, Schiffmann R, Tols..., Hum Gene Ther
• Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination (CACH).  
  Tedeschi G, Schiffmann R, Barton NW, Shih H-HL, Gospe SM, Brady RO, Alger JR, Di Chiro G, Neurology
• Outcome of partial splenectomy for type I Gaucher disease.  
  Zimran A, Elstein D, Schiffmann R, Abrahamov A, Goldberg M, Bar-Maor JA, Brady RO, Guzzetta PC, Barton NW, J Pediatr
• Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher Patients.  
  Xu L, Kluepfel-Stahl S, Blanco M, Schiffmann R, Dunbar C. and Karlsson S, Blood
• Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients:successful engraftment and long-term expression of the transgene.  
  Schiffmann R, Medin JA, Ward M, Stahl S, Cottler-Fox M, Karlsson S, Blood
• Autoimmune manifestations in the TGF-beta-1 knockout mice.  
  Yaswen L, Kulkarni AB, Fredrickson T, Mittleman B, Schiffmann R, Payne S, Longenecker G, Mozes E, Karlsson S, Blood
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Books/Book Chapters

• Towards gene therapy of Gaucher's disease. 
  Chapter: Molecular Biology of Hematopoiesis vol. 4 
  Karlsson S, Medin JA, Migita M Stahl SK, Schiffmann REditors: Abraham NG. et al.Intercept Limited, Andover, United Kingdom
• Neuronopathic forms of Gaucher disease. 
  Chapter: Gaucher's Disease, Baillère's Clinical Haematology 
  Page 711 - 723Erikson A, Bembi B, Schiffmann REditors: Zimran A.W.B. Saunders Co., Ltd, London
• Childhood ataxia with central nervous system hypomyelination (CACH). 
  Schiffmann R. Wong KEditors: Gilman S, Goldstein GW, Waxman SG.Neurobase. San Diego: Arbor PublishingEdition 3rd,
• Myoclonus in Gaucher disease. 
  Chapter: Myoclonus and paroxysmal dyskinesias 
  Frei KP, Schiffmann REditors: Fahn S, Frucht SJ.Advances in Neurology Series, Lippincott, Williams & Wilkins, Philadelphia
• An update on the leukodystrophies. 
  Chapter: Current Opinion in Neurology 
  Schiffmann R, Boespflüg-Tanguy O
• Fabry disease. 
  Chapter: Peripheral Neuropathy 
  Page 1893 - 1904Brady RO, Schiffmann REditors: P. J. Dyck and P. K. Thomas.Elsevier Saunders, PhiladelphiaEdition 4th,
• Neuronopathic phenotypes of Gaucher disease. 
  Chapter: Advances In Gaucher Disease: Basic And Clinical Perspectives 
  Schiffmann REditors: Grabowski G.Future Medicine, London, UK
• Niemann-Pick Diseases and Gaucher Disease. 
  Chapter: The Molecular and Genetic Basis of Neurologic and Psychiatric Disease 
  Brady RO, Schiffmann REditors: R. N. Rosenberg, S. B. Prusiner, S. DiMauro, R. L. Barchi, E. J. Nestler.Butterworth HeinemannEdition 3rd,
• Mucolipidosis type IV. 
  Chapter: Metabolic and Molecular Bases of Inherited Diseases 
  Goldin M, Slaugenhaupt SA, Smith JA, Schiffmann REditors: Scriver CR, Beaudet AL, Valle D, Sly WS, Vogelstein B, Childs B, Kinzler KW.McGraw-Hill
• Development of enzyme replacement therapy for Fabry disease. 
  Chapter: Fabry disease – perspective from 5 years of FOS 
  Page 345 - 356Schiffmann R. Brady ROEditors: Beck M, Linhart A, Mehta A, Sunder-Plasmann G, Widmer U.Oxford PharmaGenesis Ltd, Oxford
• Possible Future Therapies in Fabry Disease. 
  Chapter: Fabry disease – perspective from 5 years of FOS 
  Brady RO, Schiffmann REditors: Beck M, Linhart A, Mehta A, Sunder-Plasmann G, Widmer U.Oxford PharmaGenesis Ltd, Oxford
• The neurological manifestations of Fabry disease. 
  Chapter: Fabry disease – perspective from 5 years of FOS 
  Page 215 - 225Schiffmann R, Moore DFEditors: Beck M, Linhart A, Mehta A, Sunder-Plasmann G, Widmer U.Oxford PharmaGenesis Ltd, Oxford
• Neurologic effects of enzyme replacement therapy. 
  Chapter: Fabry disease – perspective from 5 years of FOS 
  Page 375 - 383Schiffmann R, Moore DFEditors: Beck M, Linhart A, Mehta A, Sunder-Plasmann G, Widmer U.Oxford PharmaGenesis Ltd, Oxford
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Abstracts/Posters

• Weekly enzyme replacement therapy may slow decline in renal function in a subset of Fabry patients after long-term biweekly dosing.
  Schiffmann R. Askari H, Timmons M, Robinson C, Ries M, 56th Meeting of the American Society of Human Genetics
• Extralysosomal Localization of Globotriaosylceramide in Fabry Disease.
  Askari H, Kaneski CR, Semino-Mora C, Ang A, Wustman BA, European Human Genetics Conference, Nice, France
• Miglustat in Gaucher Disease Type 3.
  Vellodi A, Harris C, DeVile C, Davies E, Fitzgibbon E, Abel L, Campbell P, van Schaik N, Benko W, Timmons M, Schiffmann R, European Human Genetics Conference, Nice, France
• A novel form of cerebellar ataxia with increased free sialic acid in cerebrospinal fluid.
  Mochel F, Sedel F, Engelke UFH, Barritault JMorava JE, Seguin F, Brice A, Schiffmann R, Durr A, Wevers RA, American Society Of Human Genetics 57th Annual Meeting, San Diego, California
• Childhood ataxia with CNS hypomyelination (CACH)/vanishing white matter disease (VWM) is a common leukodystrophy caused by abnormal control of protein synthesis.
  Schiffmann R, Mol Genet Metab
• A novel leukodystrophy with myelin disorganization and pituitary hypogonadotropic hypogonadism.
  Timmons M, Tsokos M, Wong K, Abu Asab M, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, 58th AAN Annual Meeting and in Meeting Highlights, San Diego, CA
• Decreased asialotransferrin in the cerebrospinal fluid in vanishing white matter disease/childhood ataxia and central hypomyelination: A clinical biomarker.
  Vanderver A, Schiffmann R, Hoffman EP, Maletkovic J, Hathout Y, 58th AAN Annual Meeting and in Meeting Highlights, San Diego, CA
• Fabry disease – A patient and murine study utilizing a systems biology approach.
  Moore DF, Krokhin OV, Wilkins JA, Gelderman MP, Goldin E, Schiffmann R, 131st Meeting of the American Neurological Association
• Initial results from a phse II clinical trial of migalastat hydrochloride in patients with Fabry disease.
  Huertas P, Schiffmann R, Patores G, Wilcox W, Palling D, Wustman B, 56th Meeting of the American Society of Human Genetics
• Alternative dosing regimens of agalsidase alfa (Replagal) in Fabry disease.
  Clarke J, West M, Schiffmann R, Bultas J, Askari H, Brady RO, 56th Meeting of the American Society of Human Genetics
• A mild neurological phenotype of mucolipidosis type IV in a patient with an altered C-terminus of mucolipin-1.
  Goldin E, Cooney AM, Kaneski CR, Blech-Hermony Y, Stahl S, Schiffmann R, American Society Of Human Genetics 57th Annual Meeting, San Diego, California
• Paternal uniparental disomy (UPD) of chromosome 1 results in both Gaucher disease type 3 and hereditary sensory motor neuropathy.
  Hruska KS, Benko WS, Eblan MJ, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E, 56th Meeting of the American Society of Human Genetics
• Cellular and tissue distribution of globotriaosylceramide (GB3) in fabry disease (FD).
  Askari H, Kleiner D, Kaneski CR, Spollen L, Schiffmann R, XIV International Symposium on Atherosclerosis, Rome, Italy
• Endoplasmic reticulum stress and altered protein trafficking in eIF2B related disorders.
  Mintz M, Hathout Y, Schiffmann R, Vanderver, Neurology
• Myoclonic encephalopathy associated with Gaucher disease and genotype N188S/RecNciI.
  Kowarz, L, Goker-Alpan O, Kinlaw L, Schiffmann R, Sidransky E, Neurology, 56th Annual Meeting of AAN
• Glucocerebrosidase mutations as a risk factor for parkinsonism.
  Sidransky E, Goker-Alpan O, Lwin A, Schiffmann R, 56th Annual Meeting of AAN
• Effect of intravenous ascorbate infusion on normal and Fabry cerebral vasculature.
  Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R, Ann Neurol
• Detection of disease-associated biomarkers in cerebrospinal fluid in vanishing white matter disease.
  Vanderver AL, Eccleston E, Brown K, Schiffmann R, Tifft C, Hathout Y, Ann Neurol
• Genetic modifiers of white matter lesions in Fabry disease.
  Moore DF, Altarescu G, Schiffmann R, American Neurological Association Annual Meeting, San Diego
• TACH, leukodystrophy with oligodontia and 4H syndrome are allelic disorders at the locus 10q22.3.
  Bernard G, Putori ML, Chouery E, Tétreault M, Thiffault I, Bouchard I, Sylvain M, Teichmann M, Melançon S, Laframboise R, Langevin P, Bouchard J-P, Vanasse M, Sébire G..., The 63rd American Academy of Neurology Annual Meeting, Honolulu, Hawaii
• Quarles R H. Schiffmann R. Two novel dysmylinating disorders with abnormal myelin protein fractions.
  Wong K. Weibel T D. Weiss M D. Kaneski C. Mixon T H. Abu-Asab M. Tsokos M, Brain Pathology
• Regional Cerebral Hyper-Perfusion and Nitric Oxide Pathway Dysregulation in Fabry Disease Reversed by Enzyme Replacement Therapy.
  Moore DF, Scott LJC, Gladwin MT, Altarescu A, Kaneski C, Pease-Fye MS, Ferri R, Brady RO, Herscovitch P, Schiffmann R, Ann Neurol
• Tremor-Ataxia with Central Hypomyelination (TACH), leukodystrophy with oligodontia and 4H syndrome (hypomyelinating leukodystrophy with hypodontia and hypogonadotropic...
  Bernard G, Putorti ML, Chouery E, Tétreault M, Thiffault I, Bouchard I, Sylvain M, Teichmann M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Sébire G..., AAN, Honolulu
• A pharmacogenetic analysis of Fabry patient responses to pharmacological chaperone treatment with AT1001 (GR181413A, Migalastat Hydrochloride).
  Benjamin ER, Wu X, Della Valle C, Katz E, Schiffmann R, Castelli JP, Boudes P, Lockhart DJ, Valenzano KJ, European Human Genetics Conference 2011 Amsterdam, The Netherlands
• Enzyme replacement therapy with agalsidase alfa (Replagal) slows the progression of renal dysfunction in male patients with Fabry disease: results of an integrated ana...
  West M, Schiffmann R, Mehta A, Amato D, Nair N, Zahrieh D, Huertas P. Enzyme, European Human Genetics Conference 2011 Amsterdam, The Netherlands
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Lectures

• An update on the leukodystrophies. 
  United Leukodystrophy Foundation annual meeting, Dekalb, IL
• A Clinical Trial for Adult Polyglucosan Body Disease. 
  Department of Neurology, Hadassah University Medical Center, Jerusalem, Israel
• An Algorithm for the Diagnosis of White Matter Disorders. 
  Department of Neurology, Children's Medical Center, Dallas, Texas
• 'Therapies for Genetic Pediatric CNS Diseases - Promises and Pitfalls. 
  Neurology Grand Rounds, Harvard Boston Children’s Hospital
• Novel Approaches to the Study of Lysosomal Disorders. 
  Grand Rounds 1st School of Medicine, Charles University, Prague, Czech Republic
• Fabry Disease and Enzyme Replacement Therapy. 
  Pediatric Grand Rounds in Medical College of Wisconsin, Department of Pediatrics
• Substrate Reduction in the Treatment of Gaucher Disease Type 3. NIH/NINDS. 
  Glycosphingolipids in Health and Disease
• The Leukodystrophies - a Window Into Myelin Development and Maintenance - A Practical Approach. 
  Grand Rounds Department of Neurology, University of Virginia, Charlottesville, VA
• Fabry Disease in XI. 
  International Congress On Neuromusclar Diseases, Istanbul, Turkey
• The Role of Lysosomal Enzyme in Common Diseases – A Testable Hypothesis. 
  Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
• Neuronopathic Gaucher Disease. 
  European Working Group on Gaucher Disease. St. John’s College, Cambridge University, UK
• EIF2B Deficiency: Selective Vulnerability of CNS Glial Cells. 
  1st International Symposium of the European Leukodystrophy Association, Paris France
• Genetics in Leukodystrophies. 
  12th annual meeting of the German Society of Neurogenetics, Rostock, Germany
• Evidence-Based Medicine in Lysosomal Disorders in the Annual Canadian Advances in the Treatment of Fabry Disease. 
  Vancouver, Canada
• Fabry disease: A Patient and Knock-Out Mouse Study Utilizing a Systems Biology Approach in the Lysosomal Disease Network. 
  Annual World Symposium, Orlando, Florida
• Fabry Disease: a Risk Factor for Common Complications - Pathogenesis and Treatment Approaches. 
  Neuroscience Noon Conference, Children National Medical Center
• Novel Approaches to the Study of Neurogenetic Disorders. 
  George S. Wise Faculty of Life Sciences Tel Aviv University, Tel Aviv, Israel
• Musings on Glycolipids and Disease. 
  25th Long Beach Institute meeting, Long Beach, Oak Island, North Carolina
• Towards a Practical Diagnostic Scheme for the Leukodystrophies. 
  United Leukodystrophy Foundation annual meeting, Dekalb, IL
• The Leukodystrophies. 
  Pediatric Neurology Grand Rounds, Medical City, Dallas, Texas
• Biomarkers in Fabry Disease. 
  Biomarkers in Fabry Nephropathy, Official Satellite of the World Congress of Nephrology, Bergamo
• Emerging treatment options to modify the disease course of Niemann-Pick type C. 
  CME symposium Facing up to today’s clinical challenges of treating lysosomal storage disorders
• A Hypothesis Testing Clinical Study for GBA Mutations in Parkinson Disease. 
  National Institutes of Health, Bethesda, Maryland
• Gaucher Type 2 & 3/Treating the Neuronopathic Aspects of the Disease. 
  Gaucher Conference 2010 Presented by the National Gaucher Foundation, Atlanta, Georgia
• Mechanisms Of Lysosomal Diseases And Their Relationship To Common Disorders – The Example Of Fabry Disease. 
  Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France
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Other

• Real-time peripheral arterial flow and wall properties derived by pulse waveform analysis and B-mode ultrasound imaging. 
  Moore DF, Pursley R, Altarescu G, Schiffmann R, Dimitriadis E, Proceedings of the fourteenth IEEE symposium on computer-based medical system
• Mucolipidosis IV (July 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. 
  Schiffmann R, Slaugenhaupt SA, Smith J, Goldin,E
  http://www.genetests.org
  University of Washington, Seattle
• Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease. 
  Lonser RR, Schiffmann R, Robison RA, Butman JA, Quezado Z, Walker ML, Morrison PF, Walbridge S, Murray GJ, Park DM, Brady RO, Oldfield EH, Neurology
• Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship. 
  Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, Digiovanna JJ, Neuroscience
• Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice. 
  Mochel F, Durant B, Durr A, Schiffmann R, PLoS One
• Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter (May 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [dat... 
  Schiffmann R, Fogli A, Van der Knaap MS, Boespflug-Tanguy O
  http://www.genetests.org
  University of Washington, Seattle
• Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. 
  Schiffmann R, Ries M, Blankenship D, Nicholls, K, Mehta A, Clarke JTR, Steiner RD, MD7, Beck M, Barshop BA, Rhead W, West, M, Martin R, Amato D, Nair N, Huertas P, Genetics in Medicine
• Effect of agalsidase alfa replacement therapy on fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled ... 
  Kampmann C, Linhart A, Devereux RB, Schiffmann R, Clin Ther
• Elevated CSF N-acetylaspartylglutamate in patients with free Sialic Acid Storage Diseases. 
  Mochel F, Engelke UFH, Barritault J, Yang B, Nathan H. McNeill YB, Jerry N. Thompson JN, Vanderver A, Wolf NI, Willemsen MA, Verheijen FW, Seguin F, Wevers RA, Schiffm..., Neurology
• Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders. 
  Horzinski L, Huyghe A, Cardoso MC, Gonthier C, Ouchchane L, Schiffmann R, Blanc P, Boespflug-Tanguy O, Fogli A, PLoS One
• An MRI-based approach to the diagnosis of white matter disorders. 
  Schiffmann R, van der Knaap MS, Neurology
• Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease. 
  Moore DF, Goldin E, Gelderman MP, Robinson C, Baer J, Ries M, Elkahloun A, Brady RO, Schiffmann R, Acta Paediatr Suppl
• Correlation between interleukin 6 promoter gene polymorphism and stroke in patients with Fabry disease. 
  Altarescu G, Moore DF, Schiffmann R
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