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Raphael Schiffmann

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Fanny Mochel; Raphael Schiffmann
Reply.
Anne Fogli; Christine Merle; Véronique Roussel; Raphael Schiffmann; Manfred Theisen; Sylvie Ughetto; Odile Boespflug-Tanguy
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
Aurélia Huyghe; Diana Rodriguez; Raphael Schiffmann; Marina Gaillard; Alain Hénaut; Laetitia Horzinski; Enrico Bertini; Odile Boespflug-Tanguy; Yann Dantal; Anne Fogli
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

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2013: Fanny Mochel; Raphael Schiffmann
Reply.
Annals of neurology 2013;73(2):318.
2012: Anne Fogli; Christine Merle; Véronique Roussel; Raphael Schiffmann; Manfred Theisen; Sylvie Ughetto; Odile Boespflug-Tanguy
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
PloS one 2012;7(8):e42688.
2012: Aurélia Huyghe; Diana Rodriguez; Raphael Schiffmann; Marina Gaillard; Alain Hénaut; Laetitia Horzinski; Enrico Bertini; Odile Boespflug-Tanguy; Yann Dantal; Anne Fogli
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
PloS one 2012;7(6):e38264.
2011: Aegean Chan; Debra Crumrine; Peter M Elias; Tajh Ferguson; Edward I Ginns; Ozlem Goker-Alpan; Walter M Holleran; Raphael Schiffmann; Nahid Tayebi; Ellen Sidransky
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Molecular genetics and metabolism 2011;104(4):631-6.
2011: William Benko; Roscoe O Brady; Markus Ries; Raphael Schiffmann; Edythe A Wiggs; Edmond J Fitzgibbon
The saccadic and neurological deficits in type 3 Gaucher disease.
PloS one 2011;6(7):e22410.
2011: Fanny Mochel; Brandon Durant; Alexandra Durr; Raphael Schiffmann
Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice.
PloS one 2011;6(3):e18336.
2010: Fanny Mochel; Nadège Boildieu; Julie Barritault; Catherine Sarret; Eleonore Eymard-Pierre; François Seguin; Raphael Schiffmann; Odile Boespflug-Tanguy
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.
Biochimica et biophysica acta 2010;1802(11):1112-7.
2010: Christine R Kaneski; Raphael Schiffmann; Roscoe O Brady; Gary J Murray
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.
Journal of lipid research 2010;51(9):2808-17.
2009: Raphael Schiffmann; David G Warnock; Maryam Banikazemi; Jan Bultas; Gabor E Linthorst; Seymour Packman; Sven Asger Sorensen; William R Wilcox; Robert J Desnick
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(7):2102-11.
2008: Jin-Song Shen; Xing-Li Meng; David F Moore; Jane M Quirk; James A Shayman; Raphael Schiffmann; Christine R Kaneski
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.
Molecular genetics and metabolism 2008;95(3):163-8.
2008: Sang H Shin; Stefanie Kluepfel-Stahl; Adele M Cooney; Christine R Kaneski; Jane M Quirk; Raphael Schiffmann; Roscoe O Brady; Gary J Murray
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Pharmacogenetics and genomics 2008;18(9):773-80.
2008: Ozlem Goker-Alpan; Edythe A Wiggs; Michael J Eblan; William Benko; Shira G Ziegler; Ellen Sidransky; Raphael Schiffmann
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.
The Journal of pediatrics 2008;153(1):89-94.
2008: Ehud Goldin; Rafael C Caruso; William Benko; Christine R Kaneski; Stephanie Stahl; Raphael Schiffmann
Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.
Investigative ophthalmology & visual science 2008;49(7):3134-42.
2008: David F Moore; Ehud Goldin; Monique P Gelderman; Chevalia Robinson; Jessica Baer; Markus Ries; Abdel G Elkahloun; Roscoe O Brady; Raphael Schiffmann
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2008;97(457):48-52.
2008: W S Benko; K S Hruska; N Nagan; O Goker-Alpan; P S Hart; Raphael Schiffmann; E Sidransky
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
Neurology 2008;70(12):976-8.
2008: Surya N Gupta; Markus Ries; Gary J Murray; Jane M Quirk; Roscoe O Brady; Jeffrey R Lidicker; Raphael Schiffmann; David F Moore
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study.
BMC neurology 2008;8():41.
2007: Markus Ries; Joe T R Clarke; Catharina Whybra; Atul Mehta; Kenneth S Loveday; Roscoe O Brady; Michael Beck; Raphael Schiffmann
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents.
Journal of clinical pharmacology 2007;47(10):1222-30.
2007: Hasan Askari; Christine R Kaneski; Cristina Semino-Mora; Priya Desai; Agnes Ang; David E Kleiner; Lorah T Perlee; Martha Quezado; Linda E Spollen; Brandon A Wustman; Raphael Schiffmann
Cellular and tissue localization of globotriaosylceramide in Fabry disease.
Virchows Archiv : an international journal of pathology 2007;451(4):823-34.
2007: Jin-Song Shen; Xing-Li Meng; Raphael Schiffmann; Roscoe O Brady; Christine R Kaneski
Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.
Molecular genetics and metabolism 2007;92(1-2):137-44.
2007: Sang-Hoon Shin; Gary J Murray; Stefanie Kluepfel-Stahl; Adele M Cooney; Jane M Quirk; Raphael Schiffmann; Roscoe O Brady; Christine R Kaneski
Screening for pharmacological chaperones in Fabry disease.
Biochemical and biophysical research communications 2007;359(1):168-73.
2007: Monique P Gelderman; Raphael Schiffmann; Jan Simak
Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapy.
Arteriosclerosis, thrombosis, and vascular biology 2007;27(7):e138-9.
2007: David F Moore; Christine R Kaneski; Hasan Askari; Raphael Schiffmann
The cerebral vasculopathy of Fabry disease.
Journal of the neurological sciences 2007;257(1-2):258-63.
2007: David F Moore; Monique P Gelderman; Paulo A Ferreira; Steven R Fuhrmann; Haiqing Yi; Abdel G Elkahloun; Lisa M Lix; Roscoe O Brady; Raphael Schiffmann; Ehud Goldin
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(19):8065-70.
2007: Raphael Schiffmann; Hasan Askari; Margaret Timmons; Chevalia Robinson; William Benko; Roscoe O Brady; Markus Ries
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.
Journal of the American Society of Nephrology : JASN 2007;18(5):1576-83.
2007: Gary J Murray; Miriam R Anver; Maureen A Kennedy; Jane M Quirk; Raphael Schiffmann
Cellular and tissue distribution of intravenously administered agalsidase alfa.
Molecular genetics and metabolism 2007;90(3):307-12.
2007: David F Moore; Markus Ries; Evelyn L Forget; Raphael Schiffmann
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.
PharmacoEconomics 2007;25(3):201-8.
2007: Markus Ries; H Jeffrey Kim; Christopher K Zalewski; M A Mastroianni; David F Moore; Roscoe O Brady; James Dambrosia; Raphael Schiffmann; Carmen C Brewer
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.
Brain : a journal of neurology 2007;130(Pt 1):143-50.
2006: Margaret Timmons; Maria Tsokos; M Abu Asab; S B Seminara; GC Zirzow; Christine R Kaneski; John D Heiss; Marjo S van der Knaap; marie T vanier; Raphael Schiffmann; Kondi Wong
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
Neurology 2006;67(11):2066-9.
2006: Christine R Kaneski; David F Moore; Markus Ries; GC Zirzow; Raphael Schiffmann
Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.
Neurology 2006;67(11):2045-7.
2006: Markus Ries; Joe T R Clarke; Catharina Whybra; Margaret Timmons; Chevalia Robinson; Bradley L Schlaggar; Gregory Pastores; Y Howard Lien; Christoph Kampmann; Roscoe O Brady; Michael Beck; Raphael Schiffmann
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.
Pediatrics 2006;118(3):924-32.
2006: Raphael Schiffmann; Peter Hauer; Barbara Freeman; Markus Ries; Leland J C Scott; Michael Polydefkis; Roscoe O Brady; justin charles mcarthur; Kathryn R Wagner
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease.
Muscle & nerve 2006;34(1):53-6.
2006: Raphael Schiffmann
Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy.
Acta neurologica Belgica 2006;106(2):61-5.
2006: Raphael Schiffmann; Orna Elroy-Stein
Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.
Molecular genetics and metabolism 2006;88(1):7-15.
2006: David F Moore; Monique P Gelderman; Steven R Fuhrmann; Raphael Schiffmann; Roscoe O Brady; Ehud Goldin
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2006;95(451):69-71.
2006: Walter M Holleran; Shira G Ziegler; Ozlem Goker-Alpan; Michael J Eblan; P M Elias; Raphael Schiffmann; Ellen Sidransky
Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease.
Clinical genetics 2006;69(4):355-7.
2006: Patricia Combes; Marie-Noëlle Bonnet-Dupeyron; Fernande Gauthier-Barichard; Raphael Schiffmann; Enrico Bertini; Diana Rodriguez; John A L Armour; Odile Boespflug-Tanguy; Catherine Vaurs-Barrière
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.
Neurogenetics 2006;7(1):31-7.
2006: Raphael Schiffmann; Amy V Rapkiewicz; Mones Abu-Asab; Markus Ries; Hasan Askari; Maria Tsokos; Martha Quezado
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement.
Virchows Archiv : an international journal of pathology 2006;448(3):337-43.
2006: Markus Ries; David F Moore; Chevalia J Robinson; Cynthia J Tifft; Kenneth N Rosenbaum; Roscoe O Brady; Raphael Schiffmann; Donna Krasnewich
Quantitative dysmorphology assessment in Fabry disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(2):96-101.
2006: Raphael Schiffmann; Markus Ries; Margaret Timmons; John T Flaherty; Roscoe O Brady
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006;21(2):345-54.
2006: C Vaurs-Barriere; Marie-Noëlle Bonnet-Dupeyron; Patricia Combes; Fernande Gauthier-Barichard; Xavier T Reveles; Raphael Schiffmann; Enrico Bertini; Diana Rodriguez; Philippe Vago; John A L Armour; Pascale Saugier-Veber; Thierry Frebourg; Robin J Leach; Odile Boespflug-Tanguy
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
Annals of human genetics 2006;70(Pt 1):66-77.
2005: Raphael Schiffmann; Markus Ries
Fabry's disease--an important risk factor for stroke.
Lancet 2005;366(9499):1754-6.
2005: Kyun Oh Lee; Nga Luu; Christine R Kaneski; Raphael Schiffmann; Roscoe O Brady; Gary J Murray
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain.
Biochemical and biophysical research communications 2005;337(2):701-7.
2005: Liraz Kantor; Heather P Harding; David Ron; Raphael Schiffmann; Christine R Kaneski; Scot R Kimball; Orna Elroy-Stein
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.
Human genetics 2005;118(1):99-106.
2005: Surya Gupta; Markus Ries; Steven Kotsopoulos; Raphael Schiffmann
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.
Medicine 2005;84(5):261-8.
2005: Laurence Kowarz; Ozlem Goker-Alpan; Sharmila Banerjee-Basu; Mary E LaMarca; Leah Kinlaw; Raphael Schiffmann; Andreas D Baxevanis; Ellen Sidransky
Gaucher mutation N188S is associated with myoclonic epilepsy.
Human mutation 2005;26(3):271-3; author reply 274-5.
2005: Ozlem Goker-Alpan; Kathleen S Hruska; Eduard Orvisky; P S Kishnani; Barbara K Stubblefield; Raphael Schiffmann; Ellen Sidransky
Divergent phenotypes in Gaucher disease implicate the role of modifiers.
Journal of medical genetics 2005;42(6):e37.
2005: Markus Ries; Surya Gupta; David F Moore; Vandana Sachdev; Jane M Quirk; Gary J Murray; Douglas R Rosing; Chevalia Robinson; Ellen Schaefer; Andreas Gal; James Dambrosia; Scott C Garman; Roscoe O Brady; Raphael Schiffmann
Pediatric Fabry disease.
Pediatrics 2005;115(3):e344-55.
2004: Ozlem Goker-Alpan; Raphael Schiffmann; Mary E LaMarca; Robert L Nussbaum; Aideen McInerney-Leo; Ellen Sidransky
Parkinsonism among Gaucher disease carriers.
Journal of medical genetics 2004;41(12):937-40.
2004: Roscoe O Brady; Raphael Schiffmann
Enzyme-replacement therapy for metabolic storage disorders.
Lancet neurology 2004;3(12):752-6.
2004: Ehud Goldin; Stefanie Stahl; Adele M Cooney; Christine R Kaneski; Surya Gupta; Roscoe O Brady; James R Ellis; Raphael Schiffmann
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
Human mutation 2004;24(6):460-5.
2004: David F Moore; Frank Ye; Marie-Luise Brennan; Surya Gupta; Bruce A Barshop; Robert D Steiner; William J Rhead; Roscoe O Brady; Stanley L Hazen; Raphael Schiffmann
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.
Journal of magnetic resonance imaging : JMRI 2004;20(4):674-83.
2004: Markus Ries; Karen E Bove Bettis; Peter Choyke; Jeffrey B Kopp; Howard A Austin; Roscoe O Brady; Raphael Schiffmann
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease.
Kidney international 2004;66(3):978-82.
2004: Anne Fogli; Raphael Schiffmann; Lynne Hugendubler; Patricia Combes; Enrico Bertini; Diana Rodriguez; Scot R Kimball; Odile Boespflug-Tanguy
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
European journal of human genetics : EJHG 2004;12(7):561-6.
2004: Anne Fogli; Raphael Schiffmann; Enrico Bertini; S Ughetto; Patricia Combes; Eleonore Eymard-Pierre; Christine R Kaneski; M Pineda; M Troncoso; Graziella Uziel; R Surtees; D Pugin; M-P Chaunu; Diana Rodriguez; Odile Boespflug-Tanguy
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Neurology 2004;62(9):1509-17.
2004: Raphael Schiffmann; Marjo S van der Knaap
The latest on leukodystrophies.
Current opinion in neurology 2004;17(2):187-92.
2003: David F Moore; Gheona Altarescu; W Craig Barker; Nicholas Patronas; Peter Herscovitch; Raphael Schiffmann
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions.
Brain research bulletin 2003;62(3):231-40.
2003: Catherine Vaurs-Barriere; Kondi Wong; Thais D Weibel; Mones Abu-Asab; Michael D Weiss; Christine R Kaneski; Tong-Hui Mixon; Simona Bonavita; Isabelle Creveaux; John D Heiss; Maria Tsokos; Ehud Goldin; Richard H Quarles; Odile Boespflug-Tanguy; Raphael Schiffmann
Insertion of mutant proteolipid protein results in missorting of myelin proteins.
Annals of neurology 2003;54(6):769-80.
2003: Raphael Schiffmann; Mary Kay Floeter; James Dambrosia; Surya Gupta; David F Moore; Yehonatan Sharabi; Ramesh K Khurana; Roscoe O Brady
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.
Muscle & nerve 2003;28(6):703-10.
2003: Jeffrey B Kopp; Raphael Schiffmann
Images in clinical medicine. Fabry's disease.
The New England journal of medicine 2003;349(21):e20.
2003: Ozlem Goker-Alpan; Raphael Schiffmann; Joseph Park; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
The Journal of pediatrics 2003;143(2):273-6.
2003: Simona Bonavita; Anette Virta; Neal Jeffries; Ehud Goldin; Gioacchino Tedeschi; Raphael Schiffmann
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging.
Journal of child neurology 2003;18(7):443-9.
2003: David F Moore; Frank Ye; Raphael Schiffmann; John A Butman
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease.
AJNR. American journal of neuroradiology 2003;24(6):1096-101.
2003: Nahid Tayebi; J Walker; Barbara K Stubblefield; Eduard Orvisky; Mary E LaMarca; K Wong; Hanna Rosenbaum; Raphael Schiffmann; Bruno Bembi; Ellen Sidransky
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Molecular genetics and metabolism 2003;79(2):104-9.
2003: Anne Fogli; Diana Rodriguez; Eleonore Eymard-Pierre; Françoise Bouhour; Pierre Labauge; Brandon F Meaney; Susan Zeesman; Christine R Kaneski; Raphael Schiffmann; Odile Boespflug-Tanguy
Ovarian failure related to eukaryotic initiation factor 2B mutations.
American journal of human genetics 2003;72(6):1544-50.
2003: Joseph Park; Eduard Orvisky; Nahid Tayebi; Christine Kaneski; Mary E LaMarca; Barbara K Stubblefield; Brian M Martin; Raphael Schiffmann; Ellen Sidransky
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Pediatric research 2003;53(3):387-95.
2002: Carlos A Luciano; James W Russell; Tapas K Banerjee; Jane M Quirk; Leland J C Scott; James Dambrosia; Norman W Barton; Raphael Schiffmann
Physiological characterization of neuropathy in Fabry's disease.
Muscle & nerve 2002;26(5):622-9.
2002: Anne Fogli; Kondi Wong; Eleonore Eymard-Pierre; Jack Wenger; John-Paul Bouffard; Ehud Goldin; Deborah N Black; Odile Boespflug-Tanguy; Raphael Schiffmann
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
Annals of neurology 2002;52(4):506-10.
2002: Gheona Altarescu; Mei Sun; David F Moore; Janine A Smith; Edythe A Wiggs; BI Solomon; Nicholas Patronas; Karen P Frei; Surya Gupta; Christine R Kaneski; O W Quarrell; Susan A Slaugenhaupt; Ehud Goldin; Raphael Schiffmann
The neurogenetics of mucolipidosis type IV.
Neurology 2002;59(3):306-13.
2002: David F Moore; Gheona Altarescu; Peter Herscovitch; Raphael Schiffmann
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
BMC neurology 2002;2():4.
2002: Mary H Branton; Raphael Schiffmann; Jeffrey B Kopp
Natural history and treatment of renal involvement in Fabry disease.
Journal of the American Society of Nephrology : JASN 2002;13 Suppl 2():S139-43.
2002: Raphael Schiffmann; Henry Mankin; James Dambrosia; Ramnik Xavier; Constance Kreps; Suvimol C Hill; Norman W Barton; Daniel I Rosenthal
Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy.
Blood cells, molecules & diseases 2002;28(2):288-96.
2002: Mary H Branton; Raphael Schiffmann; Sharda G Sabnis; Gary J Murray; Jane M Quirk; Gheona Altarescu; Lev G Goldfarb; Roscoe O Brady; James E Balow; Howard A Austin Iii; Jeffrey B Kopp
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Medicine 2002;81(2):122-38.
2002: David F Moore; Gheona Altarescu; Geoffrey S F Ling; Neal Jeffries; Karen P Frei; Thais Weibel; Gustavo Adolfo Charria-Ortiz; Raymond Ferri; Andrew Arai; Roscoe O Brady; Raphael Schiffmann
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.
Stroke; a journal of cerebral circulation 2002;33(2):525-31.
2002: David F Moore; Raphael Schiffmann; Aziz Ulug
Elevated CNS average diffusion constant in Fabry disease.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2002;91(439):67-8.
2002: Raphael Schiffmann; L J C Scott
Pathophysiology and assessment of neuropathic pain in Fabry disease.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2002;91(439):48-52.
2002: Raphael Schiffmann; Roscoe O Brady
New prospects for the treatment of lysosomal storage diseases.
Drugs 2002;62(5):733-42.
2002: David F Moore; Gheona Altarescu; Randall Pursley; Umberto Campia; Julio A Panza; Emilios Dimitriadis; Raphael Schiffmann
Arterial wall properties and Womersley flow in Fabry disease.
BMC cardiovascular disorders 2002;2():1.
2001: Raphael Schiffmann; O Boespflüg-Tanguy
An update on the leukodsytrophies.
Current opinion in neurology 2001;14(6):789-94.
2001: Lorena Baccaglini; Raphael Schiffmann; Michael T Brennan; HE Lancaster; Ashok Kulkarni; Jaime Brahim
Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 2001;92(4):415-9.
2001: David F Moore; L T Scott; M T Gladwin; Gheona Altarescu; Christine R Kaneski; K Suzuki; M Pease-Fye; R Ferri; Roscoe O Brady; Peter Herscovitch; Raphael Schiffmann
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy.
Circulation 2001;104(13):1506-12.
2001: Gheona Altarescu; Lev G Goldfarb; Kye-Yoon Park; Christine R Kaneski; Neal Jeffries; S Litvak; James W Nagle; Raphael Schiffmann
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Clinical genetics 2001;60(1):46-51.
2001: David F Moore; Peter Herscovitch; Raphael Schiffmann
Selective arterial distribution of cerebral hyperperfusion in Fabry disease.
Journal of neuroimaging : official journal of the American Society of Neuroimaging 2001;11(3):303-7.
2001: Gheona Altarescu; David F Moore; Randall Pursley; Umberto Campia; S Goldstein; M Bryant; Julio A Panza; Raphael Schiffmann
Enhanced endothelium-dependent vasodilation in Fabry disease.
Stroke; a journal of cerebral circulation 2001;32(7):1559-62.
2001: Raphael Schiffmann; Jeffrey B Kopp; Howard A Austin; Sharda G Sabnis; David F Moore; Thais Weibel; James E Balow; Roscoe O Brady
Enzyme replacement therapy in Fabry disease: a randomized controlled trial.
JAMA : the journal of the American Medical Association 2001;285(21):2743-9.
2001: James S Acierno; John C Kennedy; John Falardeau; Maire Leyne; M C Bromley; M W Colman; Mei Sun; Catherine M Bove; L K Ashworth; L H Chadwick; Taryn A Schiripo; S Ma; Ehud Goldin; Raphael Schiffmann; Susan A Slaugenhaupt
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
Genomics 2001;73(2):203-10.
2001: Gheona Altarescu; S Hill; Edythe A Wiggs; Neal Jeffries; Constance Kreps; CC Parker; Roscoe O Brady; Norman W Barton; Raphael Schiffmann
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.
The Journal of pediatrics 2001;138(4):539-47.
2001: Simona Bonavita; Raphael Schiffmann; David F Moore; Karen P Frei; B Choi; N Patronas MD; Anette Virta; O Boespflüg-Tanguy; Gioacchino Tedeschi
Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations.
Neurology 2001;56(6):785-8.
2001: Marjorie Garvey; C Toro; S Goldstein; Gheona Altarescu; Edythe A Wiggs; Mark Hallett; Raphael Schiffmann
Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease.
Neurology 2001;56(3):391-4.
2001: Roscoe O Brady; Gary J Murray; David F Moore; Raphael Schiffmann
Enzyme replacement therapy in Fabry disease.
Journal of inherited metabolic disease 2001;24 Suppl 2():18-24; discussion 11-2.
2001: Raphael Schiffmann
Natural history of Fabry disease in males: preliminary observations.
Journal of inherited metabolic disease 2001;24 Suppl 2():15-7; discussion 11-2.
2000: Roscoe O Brady; Raphael Schiffmann
Clinical features of and recent advances in therapy for Fabry disease.
JAMA : the journal of the American Medical Association 2000;284(21):2771-5.
2000: Mei Sun; Ehud Goldin; Stefanie Stahl; John Falardeau; John C Kennedy; James S Acierno; Catherine M Bove; Christine R Kaneski; James W Nagle; M C Bromley; M Colman; Raphael Schiffmann; Susan A Slaugenhaupt
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Human molecular genetics 2000;9(17):2471-8.
2000: Gheona Altarescu; Raphael Schiffmann; CC Parker; David F Moore; Constance Kreps; Roscoe O Brady; Norman W Barton
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease.
Blood cells, molecules & diseases 2000;26(4):285-90.
2000: Nadir A Syed; F Sandbrink; C A Luciano; Gheona Altarescu; Thais Weibel; Raphael Schiffmann; Mary Kay Floeter
Cutaneous silent periods in patients with Fabry disease.
Muscle & nerve 2000;23(8):1179-86.
2000: Thomas J DeGraba; S Azhar; Françoise Dignat-George; E Brown; Brigitte Boutière; Gheona Altarescu; Richard M McCarron; Raphael Schiffmann
Profile of endothelial and leukocyte activation in Fabry patients.
Annals of neurology 2000;47(2):229-33.
2000: Raphael Schiffmann; Gary J Murray; Douglas Treco; P Daniel; M Sellos-Moura; M Myers; Jane M Quirk; GC Zirzow; M Borowski; K Loveday; T Anderson; F Gillespie; KL Oliver; Neal Jeffries; Edward Doo; TSANYANG LIANG; Constance Kreps; K Gunter; Karen P Frei; Kevin Crutchfield; R F Selden; Roscoe O Brady
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(1):365-70.
1999: Susan A Slaugenhaupt; James S Acierno; LA Helbling; Catherine M Bove; Ehud Goldin; G Bach; Raphael Schiffmann; James Gusella
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
American journal of human genetics 1999;65(3):773-8.
1999: Ehud Goldin; Adele M Cooney; Christine R Kaneski; Roscoe O Brady; Raphael Schiffmann
Mucolipidosis IV consists of one complementation group.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(15):8562-6.
1999: T Takenaka; C S Hendrickson; D M Tworek; M Tudor; Raphael Schiffmann; Roscoe O Brady; Jeffrey A Medin
Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease.
Experimental hematology 1999;27(7):1149-59.
1999: Toshio Ohshima; Raphael Schiffmann; Gary J Murray; Jeffrey Kopp; Jane M Quirk; S Stahl; Chi-Chao Chan; P Zerfas; Jung-Hwa Tao-Cheng; J M Ward; Roscoe O Brady; Ashok Kulkarni
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(11):6423-7.
1999: Gioacchino Tedeschi; Simona Bonavita; Tapas K Banerjee; Anette Virta; Raphael Schiffmann
Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study.
Neurology 1999;52(8):1663-7.
1999: Leland J C Scott; John W Griffin; Carlos A Luciano; N W Barton; Tapas K Banerjee; Thomas O Crawford; justin charles mcarthur; A Tournay; Raphael Schiffmann
Quantitative analysis of epidermal innervation in Fabry disease.
Neurology 1999;52(6):1249-54.
1998: Karen P Frei; Nicholas Patronas; Kevin Crutchfield; Gheona Altarescu; Raphael Schiffmann
Mucolipidosis type IV: characteristic MRI findings.
Neurology 1998;51(2):565-9.
1998: Gioacchino Tedeschi; Simona Bonavita; Norman W Barton; A Betolino; Joseph A Frank; Nicholas Patronas; J R Alger; Raphael Schiffmann
Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease.
Journal of neurology, neurosurgery, and psychiatry 1998;65(1):72-9.
1998: Kevin Crutchfield; Nicholas Patronas; James Dambrosia; Karen P Frei; Tapas K Banerjee; Norman W Barton; Raphael Schiffmann
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.
Neurology 1998;50(6):1746-9.
1998: H Siegel; Karen P Frei; J Greenfield; Raphael Schiffmann; Susumu Sato
Electroencephalographic findings in patients with mucolipidosis type IV.
Electroencephalography and clinical neurophysiology 1998;106(5):400-3.
1998: Raphael Schiffmann; Nancy K Dwyer; Irina A Lubensky; Maria Tsokos; V E Sutliff; J S Latimer; Karen P Frei; Roscoe O Brady; Norman W Barton; E Joan Blanchette-Mackie; Ehud Goldin
Constitutive achlorhydria in mucolipidosis type IV.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(3):1207-12.
1997: Raphael Schiffmann; M P Heyes; johannes aerts; James Dambrosia; M C Patterson; Thomas J DeGraba; CC Parker; GC Zirzow; KL Oliver; Gioacchino Tedeschi; Roscoe O Brady; Norman W Barton
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.
Annals of neurology 1997;42(4):613-21.
1997: Raphael Schiffmann; Gioacchino Tedeschi; R Philip Kinkel; Bruce D Trapp; Joseph A Frank; Christine R Kaneski; Roscoe O Brady; Norman W Barton; L Nelson; J A Yanovski
Leukodystrophy in patients with ovarian dysgenesis.
Annals of neurology 1997;41(5):654-61.
1996: Raphael Schiffmann
Niemann-Pick disease type C. From bench to bedside.
JAMA : the journal of the American Medical Association 1996;276(7):561-4.
1995: Gioacchino Tedeschi; Raphael Schiffmann; Norman W Barton; H H Shih; S M Gospe; Roscoe O Brady; Jeffry R Alger; G Di Chiro
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination.
Neurology 1995;45(8):1526-32.
1995: Raphael Schiffmann; Jeffrey A Medin; J M Ward; S Stahl; M Cottler-Fox; S Karlsson
Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients: successful engraftment and long-term expression of the transgene.
Blood 1995;86(3):1218-27.
1995: L C Xu; S Kluepfel-Stahl; M Blanco; Raphael Schiffmann; C Dunbar; S Karlsson
Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher patients.
Blood 1995;86(1):141-6.
1995: Ari Zimran; Deborah Elstein; Raphael Schiffmann; Aya Abrahamov; M Goldberg; J A Bar-Maor; Roscoe O Brady; P C Guzzetta; Norman W Barton
Outcome of partial splenectomy for type I Gaucher disease.
The Journal of pediatrics 1995;126(4):596-7.
1995: Gregory A Grabowski; Norman W Barton; G Pastores; James Dambrosia; T K Banerjee; M A McKee; C Parker; Raphael Schiffmann; Suvimol C Hill; Roscoe O Brady
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
Annals of internal medicine 1995;122(1):33-9.
1994: Raphael Schiffmann; J R Moller; Bruce D Trapp; H H Shih; Robert Gerard Farrer; D A Katz; Jeffry R Alger; C C Parker; Peter Hauer; Christine R Kaneski
Childhood ataxia with diffuse central nervous system hypomyelination.
Annals of neurology 1994;35(3):331-40.
1994: L Xu; S K Stahl; H P Dave; Raphael Schiffmann; P H Correll; S Kessler; S Karlsson
Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol.
Experimental hematology 1994;22(2):223-30.
1993: M C Patterson; A M Di Bisceglie; Joseph J Higgins; R B Abel; Raphael Schiffmann; C C Parker; C E Argoff; R P Grewal; K Yu; Peter G Pentchev
The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.
Neurology 1993;43(1):61-4.