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La ricerca find articoli where authors phrase all words ' KOLODNY EH' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 56 riferimenti
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    1. Wang, ZH; Zeng, BJ; Pastores, GM; Raksadawan, N; Ong, E; Kolodny, EH
      Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV

      GENETIC TESTING
    2. Kolodny, EH
      Molecular genetics of the beta-hexosaminidase isoenzymes: An introduction

      TAY-SACHS DISEASE
    3. Kolodny, EH
      Niemann-Pick disease

      CURRENT OPINION IN HEMATOLOGY
    4. Hilz, MJ; Stemper, B; Kolodny, EH
      Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

      PAIN
    5. deCasperi, R; Raghavan, SS; Sosa, MAG; Kolodny, EH; Carrier, C; Rubenstein, P; Peters, C; Wagner, J; Kurtzberg, J; Krivit, W
      Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy)

      BONE MARROW TRANSPLANTATION
    6. Wang, ZH; Zeng, B; Shibuya, H; Johnson, GS; Alroy, J; Pastores, GM; Raghavan, S; Kolodny, EH
      Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis

      JOURNAL OF INHERITED METABOLIC DISEASE
    7. Hobson, GM; Davis, AP; Stowell, NC; Kolodny, EH; Sistermans, EA; de Coo, IFM; Funanage, VL; Marks, HG
      Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

      NEUROLOGY
    8. Charrow, J; Andersson, HC; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS; Weinreb, NJ; Zimran, A
      The Gaucher registry - Demographics and disease characteristics of 1698 patients with Gaucher disease

      ARCHIVES OF INTERNAL MEDICINE
    9. De Gasperi, R; Sosa, MAG; Sartorato, E; Battistini, S; Raghavan, S; Kolodny, EH
      Molecular basis of late-life globoid cell leukodystrophy

      HUMAN MUTATION
    10. Hilz, MJ; Axelrod, FB; Schweibold, G; Kolodny, EH
      Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons

      CLINICAL AUTONOMIC RESEARCH
    11. Raghavan, S; Leshinsky, E; Kolodny, EH
      G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts

      NEUROCHEMICAL RESEARCH
    12. Koc, ON; Peters, C; Aubourg, P; Raghavan, S; Dyhouse, S; DeGasperi, R; Kolodny, EH; BenYoseph, Y; Gerson, SL; Lazarus, HM; Caplan, AI; Watkins, PA; Krivit, W
      Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

      EXPERIMENTAL HEMATOLOGY
    13. Wang, ZH; Zagzag, D; Zeng, BJ; Kolodny, EH
      In vivo and in vitro glioma cell killing induced by an adenovirus expressing both cytosine deaminase and thymidine kinase and its association with interferon-alpha

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    14. Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS
      Gaucher disease - In reply

      ARCHIVES OF INTERNAL MEDICINE
    15. Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS
      Recommendations for diagnosis, evaluation, and monitoring of patients withGaucher disease - In reply

      ARCHIVES OF INTERNAL MEDICINE
    16. Hilz, MJ; Stemper, B; Schweibold, G; Neuner, I; Grahmann, F; Kolodny, EH
      Quantitative thermal perception testing in 225 children and juveniles

      JOURNAL OF CLINICAL NEUROPHYSIOLOGY
    17. MARKS HG; KOLODNY EH; KOBAYASHI H; HOFFMAN E; GRAF WD; ROE E; HOBSON G
      PHENOTYPIC GENOTYPIC CORRELATION IN PATIENTS WITH PROTEOLIPID PROTEINGENE ABNORMALITIES

      Annals of neurology
    18. WANG ZH; SAMUELS S; SOSA MAG; KOLODNY EH
      5-FLUOROCYTOSINE-MEDIATED APOPTOSIS AND DNA-DAMAGE IN GLIOMA-CELLS ENGINEERED TO EXPRESS CYTOSINE DEAMINASE AND THEIR ENHANCEMENT WITH INTERFERON

      Journal of neuro-oncology
    19. KRIVIT W; SHAPIRO EG; PETERS C; WAGNER JE; CORNU G; KURTZBERG J; WENGER DA; KOLODNY EH; VANIER MT; LOES DJ; DUSENBERY K; LOCKMAN LA
      HEMATOPOIETIC STEM-CELL TRANSPLANTATION IN GLOBOID-CELL LEUKODYSTROPHY

      The New England journal of medicine
    20. HILZ MJ; KOLODNY EH; NEUNER I; STEMPER B; AXELROD FB
      HIGHLY ABNORMAL THERMOTESTS IN FAMILIAL DYSAUTONOMIA SUGGEST INCREASED CARDIAC AUTONOMIC RISK

      Journal of Neurology, Neurosurgery and Psychiatry
    21. CHARROW J; ESPLIN JA; GRIBBLE TJ; KAPLAN P; KOLODNY EH; PASTORES GM; SCOT CR; WAPPNER RS; WEINREB NJ; WISCH JS
      GAUCHER-DISEASE - RECOMMENDATIONS ON DIAGNOSIS, EVALUATION, AND MONITORING

      Archives of internal medicine
    22. NANCE MA; RAABE WA; MIDANI H; KOLODNY EH; DAVID WS; MEGNA L; PERICAKVANCE MA; HAINES JL
      CLINICAL HETEROGENEITY OF FAMILIAL SPASTIC PARAPLEGIA LINKED TO CHROMOSOME 2P21

      Human heredity
    23. SOSA MAG; DEGASPERI R; PATARCA R; FLETCHER MA; KOLODNY EH
      ANTISULFATIDE IGG ANTIBODIES RECOGNIZE HIV PROTEINS

      Journal of acquired immune deficiency syndromes and human retrovirology
    24. KOLODNY EH; SOSA MAG; BATTISTINI S; SARTORATO E; RAGHAVAN S; DEGASPERI R
      MULTIPLE MUTATIONS IN THE GALACTOCEREBROSIDASE GENE ARE ASSOCIATED WITH A VERY MILD LATE-ONSET FORM OF GLOBOID-CELL LEUKODYSTROPHY

      Annals of neurology
    25. BERNARDINI GL; HERRERA DG; CARSON D; DEGASPERI R; SOSA MAG; KOLODNY EH; TRIFILETTI R
      ADULT-ONSET KRABBES DISEASE IN SIBLINGS WITH NOVEL MUTATIONS IN THE GALACTOCEREBROSIDASE GENE

      Annals of neurology
    26. MARKS HG; SCAVINA MT; KOLODNY EH; PALMIERI MA; CHILDS J
      KRABBES-DISEASE PRESENTING AS A PERIPHERAL NEUROPATHY

      Muscle & nerve
    27. WANG ZH; MA JX; ZENG BJ; CATANESE VM; SAMUELS S; SOSA MAG; KOLODNY EH
      CORRELATION OF GLIOMA CELL REGRESSION WITH INHIBITION OF INSULIN-LIKE-GROWTH-FACTOR-1 AND INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN-2 EXPRESSION

      Neuroendocrinology
    28. SOSA MAG; DEGASPERI R; BATTISTINI S; GORMAN MP; KOLODNY R; KOLODNY EH
      A HUMAN CELL-SURFACE PROTEIN RECOGNIZED BY A ANTI-GALACTOSYLCERAMIDE MONOCLONAL-ANTIBODY

      Journal of neurochemistry
    29. LESHINSKY E; RIBEIRO L; GAGE DA; KOLODNY EH
      N-ACETYL ASPARTOGLUTAMATE METABOLISM IN BRAIN - APPLICATION TO CANAVAN-DISEASE

      Journal of neurochemistry
    30. DEGASPERI R; SOSA MAG; HOROWITZ M; MITCHELL DA; LEHRERFELD T; KOLODNY EH
      AN ALTERATION IN THE ALPHA-CHAIN PROPEPTIDE IS ASSOCIATED WITH BETA-HEXOSAMINIDASE-A PSEUDODEFICIENCY

      American journal of human genetics
    31. SOSA MAG; DEGASPERI R; SUGANDHI NS; LEHRERFELD TJ; UNDEVIA S; KOLODNY EH
      USE OF AMPHOTROPIC RECOMBINANT SL3-3 RETROVIRUSES IN THE STABLE REVERSION OF THE TAY-SACHS PHENOTYPE IN HUMAN BRAIN-CELLS

      American journal of human genetics
    32. DUBE MP; MLODZIENSKI MA; KIBAR Z; FARLOW MR; EBERS G; HARPER P; KOLODNY EH; ROULEAU GA; FIGLEWICZ DA
      HEREDITARY SPASTIC PARAPLEGIA - LOD-SCORE CONSIDERATIONS FOR CONFIRMATION OF LINKAGE IN A HETEROGENEOUS TRAIT

      American journal of human genetics
    33. IANCU TC; PERL DP; STERNLIEB I; LERNER A; LESHINSKY E; KOLODNY EH; HSU A; GOOD PF
      THE APPLICATION OF LASER MICROPROBE MASS ANALYSIS TO THE STUDY OF BIOLOGICAL-MATERIAL

      BioMetals
    34. WARNER LE; HILZ MJ; APPEL SH; KILLIAN JM; KOLODNY EH; KARPATI G; CARPENTER S; WATTERS GV; WHEELER C; WITT D; BODELL A; NELIS E; VANBROECKHOVEN C; LUPSKI JR
      CLINICAL PHENOTYPES OF DIFFERENT MPZ (P-0) MUTATIONS MAY INCLUDE CHARCOT-MARIE-TOOTH TYPE 1B, DEJERINE-SOTTAS, AND CONGENITAL HYPOMYELINATION

      Neuron
    35. DEGASPERI R; SOSA MAG; PATARCA R; BATISTINI S; LAMOREUX MR; RAGHAVAN S; KOWALL NW; SMITH KH; FLETCHER MA; KOLODNY EH
      INTRATHECAL SYNTHESIS OF ANTI-SULFATIDE IGG IS ASSOCIATED WITH PERIPHERAL-NERVE DISEASE IN ACQUIRED-IMMUNODEFICIENCY-SYNDROME

      AIDS research and human retroviruses
    36. ZELNIK N; AXELROD FB; LESHINSKY E; GRIEBEL ML; KOLODNY EH
      MITOCHONDRIAL ENCEPHALOMYOPATHIES PRESENTING WITH FEATURES OF AUTONOMIC AND VISCERAL DYSFUNCTION

      Pediatric neurology
    37. BERNARDINI GL; HERRERA DG; CARSON D; DEGASPERI R; SOSA MAG; KOLODNY EH; TRIFILETTI RR
      LATE-ONSET KRABBE DISEASE IN GALACTOSYLCERAMIDE BETA-GALACTOSIDASE COMPOUND HETEROZYGOTES

      Annals of neurology
    38. ZELNIK N; DOBYNS WB; FOREM SL; KOLODNY EH
      CONGENITAL PONTOCEREBELLAR ATROPHY IN 3 PATIENTS - CLINICAL, RADIOLOGIC AND ETIOLOGIC CONSIDERATIONS

      Neuroradiology
    39. DEGASPERI R; SOSA MAG; BATTISTINI S; YERETSIAN J; RAGHAVAN S; ZELNIK N; LESHINSKY E; KOLODNY EH
      LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE

      Neurology
    40. SOSA MAG; DEGASPERI R; BATTISTINI S; GORMAN MP; KOLODNY R; KOLODNY EH
      A HUMAN KIDNEY CDNA WHICH INDUCES A CELL-SURFACE PROTEIN EPITOPE RECOGNIZED BY A MONOCLONAL-ANTIBODY AGAINST GALACTOSYLCERAMIDE

      Biochemical and biophysical research communications
    41. SOSA MAG; DEGASPERI R; UNDEVIA S; YERETSIAN J; ROUSE SC; LYERLA T; KOLODNY EH
      CORRECTION OF THE GALACTOCEREBROSIDASE DEFICIENCY IN GLOBOID-CELL LEUKODYSTROPHY-CULTURED CELLS BY SL3-3 RETROVIRAL-MEDIATED GENE-TRANSFER

      Biochemical and biophysical research communications
    42. DEGASPERI R; SOSA MAG; SARTORATO EL; BATTISTINI S; MACFARLANE H; GUSELLA JF; KRIVIT W; KOLODNY EH
      MOLECULAR HETEROGENEITY OF LATE-ONSET FORMS OF GLOBOID-CELL LEUKODYSTROPHY

      American journal of human genetics
    43. DEGASPERI R; SOSA MAG; GREBNER EE; MANSFIELD D; BATTISTINI S; SARTORATO EL; RAGHAVAN SS; DAVIS JG; KOLODNY EH
      SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY

      Biochemical and molecular medicine
    44. ZELNIK N; LESHINSKY E; KOLODNY EH
      FAMILIAL SPASTIC PARAPARESIS - IS IT A MITOCHONDRIAL DISORDER

      Pediatric neurosurgery
    45. KOLODNY EH; SOSA MAG; BATTISTINI S; DEGASPERI R
      MOLECULAR-GENETICS OF LATE-ONSET FORMS OF KRABBES DISEASE

      Annals of neurology
    46. HILZ MJ; STEMPER B; BAER R; KOLODNY EH; AXELROD FB
      SYMPATHETIC SKIN-RESPONSE DIFFERENTIATES HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES TYPE-IV FROM TYPE-III

      Annals of neurology
    47. KOLODNY EH; DEGASPERI R; SOSA MAG; WEINREB HJ; HERBERT J
      ANTISULFATIDE IMMUNOGLOBULIN-G IS ELEVATED IN THE SERUM OF MULTIPLE-SCLEROSIS PATIENTS

      Annals of neurology
    48. FOLKERTH RD; ALROY J; LOMAKINA I; SKUTELSKY E; RAGHAVAN SS; KOLODNY EH
      MUCOLIPIDOSIS-IV - MORPHOLOGY AND HISTOCHEMISTRY OF AN AUTOPSY CASE

      Journal of neuropathology and experimental neurology
    49. DUBE MP; ROULEAU GA; KIBAR Z; FARLOW MR; EBERS G; HARPER P; KOLODNY EH; BAUMBACH L; FIGLEWICZ DA
      AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT

      American journal of human genetics
    50. KOLODNY EH; SOSA MAG; BATTISTINI S; SARTORATO EL; YERETSIAN J; MACFARLANE H; GUSELLA J; DEGASPERI R
      MOLECULAR-GENETICS OF LATE-ONSET KRABBE DISEASE

      American journal of human genetics
    51. DEGASPERI R; SOSA MAG; BATTISTINI S; YERETSIAN J; KOLODNY EH
      LATE-ONSET G(M2)-GANGLIOSIDOSIS IN 2 SIBLINGS OF ASHKENAZI JEWISH ANCESTRY RESULTS FROM A MUTATION IN THE HEXA GENE CAUSING ABNORMAL THERMOLABILITY OF HEXOSAMINIDASE-A

      American journal of human genetics
    52. SOSA MAG; DEGASPERI R; GREBNER EE; MANSFIELD D; BATTISTINI S; SARTORATO EL; RAGHAVAN SS; DAVIS JG; KOLODNY EH
      SUBSTITUTION OF ALANINE(531) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY

      American journal of human genetics
    53. KOLODNY EH; SOSA MAG; LESHINSKY E; DWYER D; BATTISTINI S; DEGASPERI R
      CANAVAN-DISEASE IN COMPOUND HETEROZYGOTE WITH NOVEL MUTATION (C-914-]A) IN ASPARTOACYLASE GENE (VOL 11, PG 145, 1994)

      Pediatric neurology
    54. KOLODNY EH
      DYSMYELINATING AND DEMYELINATING CONDITIONS IN INFANCY

      Current opinion in neurology and neurosurgery
    55. KOLODNY EH; DEGASPERI R; GAMA MA; RAGHAVAN S
      ANTISULFATIDE IGG AS A MARKER FOR POTENTIAL NEURODEGENERATION IN HIV-SEROPOSITIVE INDIVIDUALS

      Neurology
    56. HOROWITZ M; TZURI G; EYAL N; BEREBI A; KOLODNY EH; BRADY RO; BARTON NW; ABRAHAMOV A; ZIMRAN A
      PREVALENCE OF 9 MUTATIONS AMONG JEWISH AND NON-JEWISH GAUCHER DISEASEPATIENTS

      American journal of human genetics


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Documento generato il 20/01/21 alle ore 15:30:51