RaphaelSchiffmannMD

PubMed

• GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system.
  Asundi, J., Zhang, C., Donnelly-Roberts, D., Solorio, J., Challagundla, M., Connelly, C., Boch, C., Chen, J., Richter, M., Maneshi, M., Swensen, A., Lebon, L., Schiffm...> ;CNS Neuroscience & Therapeutics. 2024 Feb 1
• 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, Daniel Mascher, Raphael Schiffmann, Andreas Schaaf> ;JIMD Reports. 2023 Nov 1
• Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the ...
  Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard> ;Orphanet Journal of Rare Diseases. 2023 Jul 13
• 2 citations
  Optimizing human α-galactosidase for treatment of Fabry disease.
  William C Hallows, Kristen Skvorak, Nick Agard, Nikki Kruse, Xiyun Zhang, Yu Zhu, Rachel C Botham, Chinping Chng, Charu Shukla, Jessica Lao, Mathew Miller, Antoinette ...> ;Scientific Reports. 2023 Mar 23
• 1 citations
  Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak.
  Ifechukwude Ebenuwa, Pierre-Christian Violet, Sebastian J Padayatty, Yaohui Wang, Hongbin Tu, Kenneth J Wilkins, David F Moore, Peter Eck, Raphael Schiffmann, Mark Levine> ;The Journal of Nutrition. 2023 Jul 1
• 8 citations
  Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
  Rebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, Akihiro Asai, Ariana L Smith, Deeksha S Bali, Peter B Kang, Andrew P Landstrom, H Orhan Akman, T Andrew Burrow,...> ;Molecular Genetics and Metabolism. 2023 Mar 1
• 2 citations
  Dysregulated DNA methylation in the pathogenesis of Fabry disease.
  Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S Day, Erland Arning, John Marshall, Seng H Cheng, Jinghua Gu,...> ;Molecular Genetics and Metabolism Reports. 2022 Dec 1
• 6 citations
  Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.
  Raphael Schiffmann, Timothy M Cox, Jean-François Dedieu, Sebastiaan J M Gaemers, Julia B Hennermann, Hiroyuki Ida, Eugen Mengel, Pascal Minini, Pramod Mistry, Petra B ...> ;Brain. 2023 Feb 13
• 3 citations
  Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
  Emily Daykin, Nicole Fleischer, Magy Abdelwahab, Nehal Hassib, Raphael Schiffmann, Emory Ryan, Ellen Sidransky> ;Molecular Genetics and Metabolism. 2021 Nov 1
• Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]
  Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls> ;Molecular Genetics and Metabolism Reports. 2021 Oct 1
• 3 citations
  Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice.
  Yi Shuan Wu, Richie Khanna, Virginia D. Schmith, Yi Lun, Jin-Song Shen, Anadina Garcia, Leo B. Dungan, Anthony Perry, Lukas Martin, Pai-Chi Tsai, Rick Hamler, Anibh M....> ;Clinical Pharmacology in Drug Development. 2021 Sep 1
• 11 citations
  Expanded phenotype of AARS1-related white matter disease.
  Guy Helman, Marisa I. Mendes, Francesco Nicita, Lama Darbelli, Omar Sherbini, Travis Moore, Alexa Derksen, Amy Pizzino, Rosalba Carrozzo, Alessandra Torraco, Michela C...> ;Genetics in Medicine. 2021 Aug 27
• 13 citations
  Long-term follow-up of renal function in patients treated with migalastat for Fabry disease.
  Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls> ;Molecular Genetics and Metabolism Reports. 2021 Aug 4
• 4 citations
  White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology
  Ayelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, Z. Leibovitz, Yael Fisher, Raphael Schiffmann, Yulia Grishchuk, Albert L. Misko, Naama Orenstein, Dorit Lev, Tally Ler...> ;Metabolic Brain Disease. 2021 May 8
• 5 citations
  Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
  David Moreno-Martinez, Patricio Aguiar, Christiane Auray-Blais, Mathias Beck, Daniel G. Bichet, Alessandro P. Burlina, Duncan Cole, Perry M. Elliott, Ulla Feldt-Rasmus...> ;Molecular Genetics and Metabolism. 2021 Feb 20
• 3 citations
  Cerebral microangiopathy in leukoencephalopathy with cerebral calcifications and cysts: a pathological description
  Guy Helman, Angela N. Viaene, Asako Takanohashi, Marjolein Breur, Rebecca Berger, Sarah Woidill, John R. Cottrell, Raphael Schiffmann, Yanick J. Crow, Cas Simons, Mari...> ;Journal of Child Neurology. 2021 Feb 1
• 7 citations
  Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.
  Yael Pewzner-Jung, Tammar Joseph, Shani Blumenreich, Ayelet Vardi, Natalia Santos Ferreira, Soo Min Cho, Raya Eilam, Michael Tsoory, Inbal E. Biton, Vlad Brumfeld, Reb...> ;Progress in Neurobiology. 2021 Feb 1
• 22 citations
  Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
  Félixe Pelletier, Stefanie Perrier, Ferdy K. Cayami, Amytice Mirchi, Stephan Saikali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M. L...> ;The Journal of Clinical Endocrinology and Metabolism. 2021 Jan 23
• 1 citations
  Correction : Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease (Genetics in Medicine, (2021...
  Daniel G. Bichet, Johannes M. F. G. Aerts, Christiane Auray-Blais, Hiroki Maruyama, Atul Mehta, Nina Skuban, Eva Krusinska, Raphael Schiffmann> ;Genetics in Medicine. 2021 Jan 1
• 18 citations
  Assessment of plasma lyso-Gbfor clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.
  Daniel G Bichet, Johannes M Aerts, Christiane Auray-Blais, Hiroki Maruyama, Atul B Mehta, Nina Skuban, Eva Krusinska, Raphael Schiffmann> ;Genetics in Medicine. 2021 Jan 1
• 7 citations
  EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review
  Chelsie N. Poffenberger, Sara K. Inati, Nahid Tayebi, Barbara K. Stubblefield, Emory Ryan, Raphael Schiffmann, Ellen Sidransky, Grisel Lopez> ;Molecular Genetics and Metabolism. 2020 Nov 1
• 16 citations
  Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-...
  Derralynn Hughes, Patricio Aguiar, Patrick Deegan, Fatih Süheyl Ezgü, Andrea Frustaci, Olivier Lidove, Aleš Linhart, Lubanda Jc, James C. Moon, Kathleen Nicholls, Dau-...> ;BMJ Open. 2020 Oct 10
• 6 citations
  Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.
  Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen> ;Journal of Lipid Research. 2020 Aug 31
• 15 citations
  D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.
  Lyndsey Prange, Milton Pratt, Kristin Herman, Raphael Schiffmann, David M. Mueller, Melissa McLean, Mary Moya Mendez, Nicole M. Walley, Erin L. Heinzen, David Goldstei...> ;Neurology. Genetics. 2020 Aug 4
• 16 citations
  Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
  Adeline Vanderver, Geneviève Bernard, Guy Helman, Omar Sherbini, Ryan Boeck, Jeffrey Cohn, Abigail Collins, Scott Demarest, Katherine Dobbins, Lisa Emrick, Jamie L. Fr...> ;Annals of Neurology. 2020 Aug 1
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Journal Articles

• Health-Related Quality of Life for Patients with Genetically Determined Leukoencephalopathy  
  Adeline Vanderver, Raphael Schiffmann, Pediatric Neurology
• Childhood ataxia with central nervous system hypomyelination.  
  Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, Alger JR, Parker CC, Hauer, PE, Kaneski CR, Quarles RD, Brady RO, Barton NW, Ann Neurol
• Correction of enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol.  
  Xu L, Stahl SK, Dave HPG, Schiffmann R, Correll PH, Kessler S, Karlsson S, Exp Hematol
• Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase.  
  Rosenthal DI, Barton NW, Doppelt SH, Dambrosia JM, Xavier RJ, McKusick KA, Rosen BR, Niklason LT, Hill SC, Miller SPF, Brady RO, Mankin HJ, Graham OC, Dobbin MG, Kanes..., Pediatrics
• Enzyme therapy in Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.  
  Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker CC, Schiffmann R, Hill SC, Brady RO, Ann Int Med
• Lead Poisoning in a West Bank Arab Village.  
  Hershko C, Abrahamov A, Moreb J, Schiffmann R, Shahin A, Richter AD, Konijn AM, Weissenberg E, Graver F, Arch Intern Med
• Diagnosis of familial dysautonomia in the neonatal period.  
  Kaplan M, Schiffmann R, Shapira Y, Acta Paediatr Scand
• Obstructive hypertrophic adenoids and tonsils as a cause of infantile failure to thrive: reversed by tonsillectomy and adenoidectomy.  
  Schiffmann R, Faber J, Eidelman A, Int J Pediatr Otorhinolaryngol
• Selective Arterial Distribution of Cerebral Hyperperfusion in Fabry Disease.  
  Moore DF, Herscovitch P, Schiffmann R, J Neuroimaging
• Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.  
  Altarescu GM, Goldfarb LG, Park K-Y, Kaneski C, Jeffries N, Litvak L, Nagle JW Schiffmann R, Clin Genet
• Growth failure due to protein loss in dermatitis.  
  Abrahamov A, Schiffmann R, Goldstein R, Tal Y, and Freier S, Eur J Ped
• A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.  
  Acierno JS, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Mei S, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA, Genomics
• Enhanced endothelium-dependent vasodilation in Fabry disease.  
  Altarescu G, Moore DF, Pursley R, Campia C, Goldstein S, Bryant M, Panza JA, Schiffmann R, Stroke
• Enzyme replacement therapy in Fabry disease. A randomized controlled trial.  
  Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO, JAMA
• Transient neonatal nonketotic hyperglycinemia.  
  Schiffmann R, Kaye EM, Willis JK, Africk D, Ampola M, Ann Neurol
• Regional cerebral hyper-perfusion and nitric oxide dysregulation in Fabry disease: Reversal by enzyme replacement therapy.  
  Moore DF, Scott LJC, Gladwin MT, Altarescu G, Kaneski CR, Suzuki K, Pease-Fye M, Ferri R, Brady RO, Herscovitch P, Schiffmann R, Circulation
• Asymmetries of sleep spindles and beta activity in pediatric EEG.  
  Willis J, Schiffmann R, Rosman NP, Kwan ES, Ehrenberg BL, Rice JC, Clin Electroenceph
• Non-invasive diagnosis, and ophthalmic features of mucolipidosis type IV.  
  Smith, JA, Chan C-C, Goldin E, Schiffmann R, Ophthalmology
• Quantitative Natural History of Fabry Renal Disease: Influence of -Galactosidase A Activity and Genetic Mutations on Clinical Course.  
  Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, Goldfarb Barton NW, Brady RO, Balow JE, Austin HA III, Kopp JB, Medicine
• Cerebrovascular hyperdynamicity in Fabry disease with reversal following enzyme replacement therapy.  
  Moore DF, Altarescu A, Ling GSF, Jeffries N, Frei K; Brady RO, Weibel T, Charria-Ortiz G, Ferri R, Arai AE, Schiffmann R, Stroke
• Dementia with Lewy bodies and parkinsonism in a type 1 Gaucher disease patient.  
  Wong K, Topaloglu H, Tresser N, Schiffmann R, J Neuropathol Exp Neurol
• New prospect for the treatment of lysosomal storage diseases.  
  Schiffmann R. Brady RO, Drugs
• A randomized, placebo-controlled trial of enzyme replacement therapy in Fabry disease.  
  Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO, Am J Hum Genet
• Anfa–galactosidase A activity influences renal disease course in Fabry disease.  
  Branton MH, Schiffmann R, Murray GJ, Quirk JM, Austin HA, Kopp JB, J Am Soc Nephrol
• Arterial Wall Properties and Womersley Flow in Fabry Disease.  
  Moore DF, Altarescu G, Pursley R, Dimitriadis E, Schiffmann R, BMC Cardiovascular Disorders
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Books/Book Chapters

• 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
• 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,
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Abstracts/Posters

• Increased Doppler parameters consistent with arterial recanalisation following enzyme replacement therapy in Fabry disease.
  Moore DF, Altarescu GM, Herscovitch, P, Schiffmann R, Neurology
• 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
• Assessment of the utility of globotriaosylceramide as a surrogate marker based on randomized controlled trials in Fabry disease.
  Schiffmann R, Nicholls K, Mehta , Clarke JTR, Steiner RD, Beck M, Barshop BA, Rhead WJ, West M, Nair N, Martin R, Huertas P, The 60th Annual Meeting of the American Society of Human Genetics, Washington, D.C
• Early serotonin depletion and decreased dopamine release are associated with a chronic brain energy deficit in Huntington disease mice.
  Mochel F, Durant B, Schiffmann R, Durr A, The 60th Annual Meeting of the American Society of Human Genetics, Washington, D.C
• Discovering L-type Ca2+ channel abnormality in Fabry heart disease using induced pluripotent stem cells (iPSCs).
  Meng X-L, Shen J-S, McNeill NH, Brady RO, Schiffmann R, Gordon Conference on Lysosomal Storage Diseases, Galveston, Texas
• Enzyme replacement therapy with agalsidase alfa (Replagal®) may slow the progression of renal dysfunction in male patients with Fabry disease: results of a post-hoc in...
  West M, Schiffmann R, Mehta A, Amato D, Nair N, Zahrieh D, Huertas P, European Society of Human Genetics Annual conference, Amsterdam RAI, The Netherlands
• 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
• Long-Term Safety, Tolerability, and Assessments of Renal Function in Adult Fabry Patients Receiving Treatment with AT1001 (Migalastat Hydrochloride), a Pharmacological...
  Schiffmann R, Fernhoff P, Germain DP, Hughes D, Mehta A, Nicholls K, Pastores G, Giugliani R, Waldek S, Wilcox W, Adera M, 7th Annual WORLD Symposium, Las Vegas, Nevada
• Expanded Screening For Fabry Trait.
  Schiffmann R, Forni S, Swift C, Wu X, Benjamin ER, Lockhart DJ, Pond S, Chee M, Sweetman L, 7th Annual WORLD Symposium, Las Vegas, Nevada
• Involvement of abnormal androgen receptor pathway in the pathogenesis of Fabry cardiovascular disease.
  Shen J-S, Meng X-L, Durant B, Schiffmann R, Gordon Conference on Lysosomal Storage Diseases, Galveston, Texas
• Agalsidase alfa reduced cardiac mass in Fabry disease patients with left ventricular hypertrophy.
  Kampmann C, Linhart A, Schiffmann R, Devereux R, The American Society Of Human Genetics 57th Annual Meeting, San Diego, California
• Regional Brain Energy Deficit in a Preclinical Model of Huntington Disease: Presymptomatic Compensatory Mechanisms.
  Mochel F, Durant B, Schiffmann R, Durr A, 62nd Annual Meeting of the American Academy of Neurology Meeting, Toronto, Canada
• Glial Fibrillary Acidic Protein (GFAP) Mutations, Age of Onset and Clinical Presentation in Alexander Disease.
  Morgan JP, Messing A, Madison, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Gorospe R, Vanderver A, 62nd Annual Meeting of the American Academy of Neurology Meeting, Toronto, Canada
• Anaplerotic therapy for adult polyglucosan body disease (APBD) with glycogen brancher enzyme deficiency.
  Mochel F, Haller RG, Wallace M, Lossos A, Akman HO, Schiffmann R, Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Istanbul, Turkey
• A Pharmacogenetic Approach to the Selection of Fabry Patients for Pharmacological Chaperone Therapy.
  Katz E, Della Valle MC, Wu X, Mascioli K, Chang K, Greene D, Schiffmann R, Lockhart DJ, Valenzano KJ, Benjamin ER, 60th Annual Meeting of the American Society of Human Genetics, Washington, D.C
• 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
• 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
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Lectures

• Phase 2 Clinical Trials of the Pharmacological Chaperone AT1001 for the Treatment of Fabry Disease platform. 
  American College of Medical Genetics Annual Meeting
• 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
• The role of enzyme replacement therapy in rare enzymopathies. 
  Department of Genetics, UT Southwestern Medical Center, Dallas, Texas
• The Pathophysiology of Neuronopathic Lysosomal Disorders. 
  10th International Symposium on Lysosomal Storage Diseases
• Towards a Practical Diagnostic Scheme for the Leukodystrophies. 
  United Leukodystrophy Foundation annual meeting, Dekalb, IL
• Finding a Diagnosis for a Leukodystrophy. 
  Annual Australian Leukodystrophy Support Group Seminar, Royal Children’s Hospital, Melbourne, Austra
• Glycosphingolipids Disorders: Beyond Lysosomal Storage. 
  Neurology Grand Rounds (Ether Dome), Massachusetts General Hospital, Boston
• The Treatment of Neuronopathic Gaucher Disease or What Works, What doesn’t and What May. 
  Neurological Manifestations of Gaucher Disease, Florence, Italy
• Natural History of Fabry Disease: Progression of the nephropathy in a large series of affected males and heterozygous females. 
  Canadian LSD Club meeting, Toronto
• The Use of Biological Markers in Orphan Disease Research - Lessons From Lysosomal Disorders. 
  FDA Center for Drug Evaluation and Research (CDER) Visiting Professor Lecture Series (VPLS)
• The Clinical Characteristics and Natural History of Mucolipidosis Type IV. 
  Mucolipin Function in Disease symposium, National Institutes of Health, Bethesda, MD
• Novel Sialic Acid Disorders. 
  United Leukodystrophy Foundation annual meeting, Dekalb, IL
• The Role of Lysosomal Enzyme in Common Diseases – A Testable Hypothesis. 
  Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
• 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
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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
• Correlation between interleukin 6 promoter gene polymorphism and stroke in patients with Fabry disease. 
  Altarescu G, Moore DF, Schiffmann R
• 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
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