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    1. Schiffmann, R; Wendt, U; Dahl, W
      Damage mechanical investigations at ductile fracture of free-cutting steels by means of microscopy - void growth and fracture surface topography

      JOURNAL DE PHYSIQUE IV
    2. Baccaglini, L; Schiffmann, R; Brennan, MT; Lancaster, HE; Kulkarni, AB; Brahim, JS
      Oral and craniofacial findings in Fabry's disease: A report of 13 patients

      ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS
    3. Moore, DF; Herscovitch, P; Schiffmann, R
      Selective arterial distribution of cerebral hyperperfusion in Fabry disease

      JOURNAL OF NEUROIMAGING
    4. Acierno, JS; Kennedy, JC; Falardeau, JL; Leyne, M; Bromley, MC; Colman, MW; Sun, M; Bove, C; Ashworth, LK; Chadwick, LH; Schiripo, T; Ma, S; Goldin, E; Schiffmann, R; Slaugenhaupt, SA
      A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2

      GENOMICS
    5. Schiffmann, R
      Natural history of Fabry disease in males: preliminary observations

      JOURNAL OF INHERITED METABOLIC DISEASE
    6. Brady, RO; Murray, GJ; Moore, DF; Schiffmann, R
      Enzyme replacement therapy in Fabry disease

      JOURNAL OF INHERITED METABOLIC DISEASE
    7. Schiffmann, R
      Skin manifestations of Fabry disease - Reply

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    8. Schiffmann, R; Kopp, JB; Austin, HA; Sabnis, S; Moore, DF; Weibel, T; Balow, JE; Brady, RO
      Enzyme replacement therapy in Fabry disease - A randomized controlled trial

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    9. Altarescu, G; Moore, DF; Pursley, R; Campia, U; Goldstein, S; Bryant, M; Panza, JA; Schiffmann, R
      Enhanced endothelium-dependent vasodilation in Fabry disease

      STROKE
    10. Schiffmann, R; Bonavita, S; Schiffmann, R; Moore, DF; Freir, K; Choir, B; Patronas, N; Virta, A; Buespflug-Tanguy, O; Tedeschi, G
      Evidence for neuroaxonal injury in patients with proteolipid gene mutations - Reply

      NEUROLOGY
    11. Bonavita, S; Schiffmann, R; Moore, DF; Frei, K; Choi, B; Patronas, N; Virta, A; Boespflug-Tanguy, O; Tedeschi, G
      Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

      NEUROLOGY
    12. Garvey, MA; Toro, C; Goldstein, S; Altarescu, G; Wiggs, EA; Hallett, M; Schiffmann, R
      Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease

      NEUROLOGY
    13. Altarescu, G; Hill, S; Wiggs, E; Jeffries, N; Kreps, C; Parker , CC; Brady, RO; Barton, NW; Schiffmann, R; Bannarjee, TK; Crutchfield, K; Frei, K; McKee, MA; Moore, DF; Tournay, A
      The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease

      JOURNAL OF PEDIATRICS
    14. Altarescu, GM; Goldfarb, LG; Park, KY; Kaneski, C; Jeffries, N; Litvak, S; Nagle, JW; Schiffmann, R
      Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

      CLINICAL GENETICS
    15. Moore, DF; Scott, LTC; Gladwin, MT; Altarescu, G; Kaneski, C; Suzuki, K; Pease-Fye, M; Ferri, R; Brady, RO; Herscovitch, P; Schiffmann, R
      Regional cerebral hyperperfusion and nitric oxide pathway dysregulation inFabry disease - Reversal by enzyme replacement therapy

      CIRCULATION
    16. Altarescu, G; Schiffmann, R; Parker, CC; Moore, DF; Kreps, C; Brady, RO; Barton, NW
      Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease

      BLOOD CELLS MOLECULES AND DISEASES
    17. Sun, M; Goldin, E; Stahl, S; Falardeau, JL; Kennedy, JC; Acierno, JS; Bove, C; Kaneski, CR; Nagle, J; Bromley, MC; Colman, M; Schiffmann, R; Slaugenhaupt, SA
      Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

      HUMAN MOLECULAR GENETICS
    18. DeGraba, T; Azhar, S; Dignat-George, F; Brown, E; Boutiere, B; Altarescu, G; McCarron, R; Schiffmann, R
      Profile of endothelial and leukocyte activation in Fabry patients

      ANNALS OF NEUROLOGY
    19. Syed, NA; Sandbrink, F; Luciano, CA; Altarescu, G; Weibel, T; Schiffmann, R; Floeter, MK
      Cutaneous silent periods in patients with Fabry disease

      MUSCLE & NERVE
    20. Brady, RO; Schiffmann, R
      Clinical features of and recent advances in therapy for Fabry disease

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    21. Schiffmann, R; Murray, GJ; Treco, D; Daniel, P; Sellos-Moura, M; Myers, M; Quirk, JM; Zirzow, GC; Borowski, M; Loveday, K; Anderson, T; Gillespie, F; Oliver, KL; Jeffries, NO; Doo, E; Liang, TJ; Kreps, C; Gunter, K; Frei, K; Crutchfield, K; Selden, RF; Brady, RO
      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
    22. Wong, K; Armstrong, RC; Gyure, KA; Morrison, AL; Rodriguez, D; Matalon, R; Johnson, AB; Wollmann, R; Gilbert, E; Le, TQ; Bradley, CA; Crutchfield, K; Schiffmann, R
      Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

      ACTA NEUROPATHOLOGICA
    23. Takenaka, T; Hendrickson, CS; Tworek, DM; Tudor, M; Schiffmann, R; Brady, RO; Medin, JA
      Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem progenitor and stromal cellsderived from patients with Fabry disease

      EXPERIMENTAL HEMATOLOGY
    24. Lubensky, IA; Schiffmann, R; Goldin, E; Tsokos, M
      Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV - A novel cause of achlorhydria and hypergastrinemia

      AMERICAN JOURNAL OF SURGICAL PATHOLOGY
    25. Tedeschi, G; Bonavita, S; Banerjee, TK; Virta, A; Schiffmann, R
      Diffuse central neuronal involvement in Fabry disease - A proton MRS imaging study

      NEUROLOGY
    26. Scott, LJC; Griffin, JW; Luciano, C; Barton, NW; Banerjee, T; Crawford, T; McArthur, JC; Tournay, A; Schiffmann, R
      Quantitative analysis of epidermal innervation in Fabry disease

      NEUROLOGY
    27. Goldin, E; Cooney, A; Kaneski, CR; Brady, RO; Schiffmann, R
      Mucolipidosis IV consists of one complementation group

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    28. Ohshima, T; Schiffmann, R; Murray, GJ; Kopp, J; Quirk, JM; Stahl, S; Chan, CC; Zerfas, P; Tao-Cheng, JH; Ward, JM; Brady, RO; Kulkarni, AB
      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
    29. Slaugenhaupt, SA; Acierno, JS; Helbling, LA; Bove, C; Goldin, E; Bach, G; Schiffmann, R; Gusella, JF
      Mapping of the mucolipidosis type IV gene to chromosome 19p and definitionof founder haplotypes

      AMERICAN JOURNAL OF HUMAN GENETICS
    30. DUNBAR CE; KOHN DB; SCHIFFMANN R; BARTON NW; NOLTA JA; ESPLIN JA; PENSIERO M; LONG ZF; LOCKEY C; EMMONS RVB; CSIK S; LEITMAN S; KREBS CB; CARTER C; BRADY RO; KARLSSON S
      RETROVIRAL TRANSFER OF THE GLUCOCEREBROSIDASE GENE INTO CD34(-DISEASE- IN-VIVO DETECTION OF TRANSDUCED CELLS WITHOUT MYELOABLATION() CELLSFROM PATIENTS WITH GAUCHER)

      Human gene therapy
    31. Schiffmann, R; Bleck, W; Dahl, W
      The influence of strain history on ductile failure of steel

      COMPUTATIONAL MATERIALS SCIENCE
    32. SCHIFFMANN R
      ETHICS IN ORGANIZATION - CONCEPTS, FINDINGS, PRACTICAL ASPECTS - GERMAN - BLICKLE,G

      Gruppendynamik
    33. PATRONAS NJ; FREI KP; DAGHER AP; ALTARESCU G; SCHIFFMANN R
      BRAIN IMAGING FINDINGS IN PATIENTS WITH MUCOLIPIDOSIS TYPE-IV

      Radiology
    34. FREI KP; PATRONAS NJ; CRUTCHFIELD KE; ALTARESCU G; SCHIFFMANN R
      MUCOLIPIDOSIS TYPE-IV - CHARACTERISTIC MRI FINDINGS

      Neurology
    35. CRUTCHFIELD KE; PATRONAS NJ; DAMBROSIA JM; FREI KP; BANERJEE TK; BARTON NW; SCHIFFMANN R
      QUANTITATIVE-ANALYSIS OF CEREBRAL VASCULOPATHY IN PATIENTS WITH FABRY-DISEASE

      Neurology
    36. DEGRABA TJ; AZHAR S; DIGNATGEORGE F; BROWN E; WOLCOTT K; SCHIFFMANN R
      PROFILE OF ENDOTHELIAL AND LEUKOCYTE ACTIVATION IN FABRYS PATIENTS

      Neurology
    37. ALTARESCU G; GARVEY MA; WONG K; TORO C; HALLETT M; SCHIFFMANN R
      STRETCH SOMATOSENSORY-EVOKED POTENTIALS IN TYPE-3 GAUCHER-DISEASE

      Neurology
    38. SCHIFFMANN R; DWYER NK; LUBENSKY IA; TSOKOS M; SUTLIFF VE; LATIMER JS; FREI KP; BRADY RO; BARTON NW; BLANCHETTEMACKIE EJ; GOLDIN E
      CONSTITUTIVE ACHLORHYDRIA IN MUCOLIPIDOSIS TYPE-IV

      Proceedings of the National Academy of Sciences of the United Statesof America
    39. SANDBERG GD; WONG K; MORRISON AL; COLEGIAL CH; MENA H; SCHIFFMANN R
      NEUROPATHOLOGIC CLUES TO LAMINAR NEURONAL CELL LOSS IN NEURONOPATHIC GAUCHER-DISEASE

      Journal of neuropathology and experimental neurology
    40. TEDESCHI G; BONAVITA S; BARTON NW; BERTOLINO A; FRANK JA; PATRONAS NJ; ALGER JR; SCHIFFMANN R
      PROTON MAGNETIC-RESONANCE SPECTROSCOPIC IMAGING IN THE CLINICAL-EVALUATION OF PATIENTS WITH NIEMANN-PICK TYPE-C DISEASE

      Journal of Neurology, Neurosurgery and Psychiatry
    41. SIEGEL H; FREI K; GREENFIELD J; SCHIFFMANN R; SATO S
      ELECTROENCEPHALOGRAPHIC FINDINGS IN PATIENTS WITH MUCOLIPIDOSIS TYPE-IV

      Electroencephalography and clinical neurophysiology
    42. ERIKSON A; BEMBI B; SCHIFFMANN R
      NEURONOPATHIC FORMS OF GAUCHERS-DISEASE

      Bailliere's clinical haematology
    43. TAKENAKA T; HENDRICKSON CS; TUDOR M; SCHIFFMANN R; BRADY RO; MEDIN JA
      EXTENDING METABOLIC COOPERATIVITY IN GENE-TRANSFER FOR FABRY-DISEASE - TRANSDUCTION OF PATIENT BONE-MARROW CELLS LEADS TO INTRACELLULAR ENZYMATIC CORRECTION AND SECRETION

      The FASEB journal
    44. SCHIFFMANN R; HEYES MP; AERTS JM; DAMBROSIA JM; PATTERSON MC; DEGRABA T; PARKER CC; ZIRZOW GC; OLIVER K; TEDESCHI G; BRADY RO; BARTON NW; NAGINENI C; KANESKI CR; MURRAY GJ; HIGGINS JJ; TOURNAY A; BANERJEE TK; KREPS C; SCOTT LJC; MCKEE MA; CRUTCHFIELD K; FREI K
      PROSPECTIVE-STUDY OF NEUROLOGICAL RESPONSES TO TREATMENT WITH MACROPHAGE-TARGETED GLUCOCEREBROSIDASE IN PATIENTS WITH TYPE-3 GAUCHERS-DISEASE

      Annals of neurology
    45. SCHIFFMANN R; TEDESCHI G; KINKEL RP; TRAPP BD; FRANK JA; KANESKI CR; BRADY RO; BARTON NW; NELSON L; YANOVSKI JA
      LEUKODYSTROPHY IN PATIENTS WITH OVARIAN DYSGENESIS

      Annals of neurology
    46. SCHIFFMANN R
      STUDIES ON PATIENTS WITH AN UNCLASSIFIED LEUKODYSTROPHY

      Molecular and chemical neuropathology
    47. SCHIFFMANN R
      NIEMANN-PICK DISEASE TYPE-C - FROM BENCH TO BEDSIDE

      JAMA, the journal of the American Medical Association
    48. SCHIFFMANN R; PARKER CC; SCOTT LJC; DEGRABA T; BRADY RO; BARTON NW
      A PROSPECTIVE-STUDY OF ENZYME REPLACEMENT THERAPY IN TYPE-3 GAUCHER DISEASE

      Neurology
    49. YASWEN L; KULKARNI AB; FREDRICKSON T; MITTLEMAN B; SCHIFFMANN R; PAYNE S; LONGENECKER G; MOZES E; KARLSSON S
      AUTOIMMUNE MANIFESTATIONS IN THE TRANSFORMING GROWTH-FACTOR-BETA-1 KNOCKOUT MOUSE

      Blood
    50. SCHIFFMANN R; YANOVSKI JA; TEDESCHI G; KINKEL RP; BRADY RO; DICHIRO G; BARTON NW
      OVARIOLEUKODYSTROPHY - A NEW WHITE-MATTER SYNDROME

      Annals of neurology
    51. TEDESCHI G; SCHIFFMANN R; BARTON NW; SHIH HHL; GOSPE SM; BRADY RO; ALGER JR; DICHIRO G
      PROTON MAGNETIC-RESONANCE SPECTROSCOPIC IMAGING IN CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION

      Neurology
    52. ZIMRAN A; ELSTEIN D; SCHIFFMANN R; ABRAHAMOV A; GOLDBERG M; BARMAOR JA; BRADY RO; GUZZETTA PC; BARTON NW
      OUTCOME OF PARTIAL SPLENECTOMY FOR TYPE-I GAUCHER DISEASE

      The Journal of pediatrics
    53. SCHIFFMANN R; MEDIN JA; WARD JM; STAHL S; COTTLERFOX M; KARLSSON S
      TRANSFER OF THE HUMAN GLUCOCEREBROSIDASE GENE INTO HEMATOPOIETIC STEM-CELLS OF NONABLATED RECIPIENTS - SUCCESSFUL ENGRAFTMENT AND LONG-TERMEXPRESSION OF THE TRANSGENE

      Blood
    54. XU LC; KLUEPFELSTAHL S; BLANCO M; SCHIFFMANN R; DUNBAR C; KARLSSON S
      GROWTH-FACTORS AND STROMAL SUPPORT GENERATE VERY EFFICIENT RETROVIRALTRANSDUCTION OF PERIPHERAL-BLOOD CD34(+) CELLS FROM GAUCHER PATIENTS

      Blood
    55. GRABOWSKI GA; BARTON NW; PASTORES G; DAMBROSIA JM; BANERJEE TK; MCKEE MA; PARKER C; SCHIFFMANN R; HILL SC; BRADY RO
      ENZYME THERAPY IN TYPE-1 GAUCHER DISEASE - COMPARATIVE EFFICACY OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE FROM NATURAL AND RECOMBINANT SOURCES

      Annals of internal medicine
    56. ALGER JR; SCHIFFMANN R; BARTON NW
      LIMITATIONS OF MAGNETIC-RESONANCE SPECTROSCOPY IN PATIENTS WITH WHITE-MATTER DISEASE - REPLY

      Annals of neurology
    57. SCHIFFMANN R; TEDESCHI G; SHIH HHL; ALGER JR; PARKER CC; BRADY RO; DICHIRO G; BARTON NW
      H-1 MAGNETIC-RESONANCE SPECTROSCOPIC IMAGING IN PATIENTS WITH CHILDHOOD ATAXIA WITH CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION

      Annals of neurology
    58. SCHIFFMANN R; MOLLER JR; TRAPP BD; SHIH HHL; FARRER RG; KATZ DA; ALGER JR; PARKER CC; HAUER PE; KANESKI CR; HEISS JD; KAYE EM; QUARLES RH; BRADY RO; BARTON NW
      CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION

      Annals of neurology
    59. XU LC; STAHL SK; DAVE HPG; SCHIFFMANN R; CORRELL PH; KESSLER S; KARLSSON S
      CORRECTION OF THE ENZYME DEFICIENCY IN HEMATOPOIETIC-CELLS OF GAUCHERPATIENTS USING A CLINICALLY ACCEPTABLE RETROVIRAL SUPERNATANT TRANSDUCTION PROTOCOL

      Experimental hematology
    60. SCHIFFMANN R; NELKENBRECHER D
      REACTIONS TO SELF-DISCREPANT FEEDBACK - FEMINIST ATTITUDE AND SYMBOLIC SELF-COMPLETION

      European journal of social psychology
    61. GRABOWSKI GA; BARTON NW; PASTORES G; DAMBROSIA JM; BANERJEE TK; MCKEE MA; PARKER C; SCHIFFMANN R; HILL SC; BRADY RO
      ENZYME THERAPY IN GAUCHER DISEASE TYPE-1 - COMPARATIVE EFFICACY OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE FROM NATURAL AND RECOMBINANT SOURCES

      Blood
    62. SCHIFFMANN R; MEDIN JA; WARD J; STAHL S; COTTLERFOX M; KARLSSON S
      TRANSFER OF THE HUMAN GLUCOCEREBROSIDASE (HGC) GENE INTO HEMATOPOIETIC STEM-CELLS OF NONABLATED MICE

      Blood
    63. YASWEN L; KULKARNI AB; WARD J; SCHIFFMANN R; MOZES E; KARLSSON S
      POTENTIAL AUTOIMMUNE ETIOLOGY IN TGF-BETA-1 KNOCKOUT MOUSE IMMUNE DYSREGULATION

      Blood
    64. SCHIFFMANN R
      SOCIAL IDENTITY NOTIONS AND THEORIES - A REPLY

      Theory & psychology
    65. SCHIFFMANN R; MANNHEIM GB; STAFSTROM CE; HAMBURGER SD; HOLMES GL
      POSTERIOR-FOSSA ABNORMALITIES IN CHILDREN WITH INFANTILE SPASMS

      Journal of child neurology


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Documento generato il 22/10/20 alle ore 03:46:04