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    Last Name
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    Edward I Ginns MD, PhD

    TitleProfessor
    InstitutionUniversity of Massachusetts Medical School
    DepartmentPsychiatry
    AddressUniversity of Massachusetts Medical School
    222 Maple Avenue
    Shrewsbury MA 01545
    Phone508-856-8134
      Other Positions
      InstitutionUMMS - School of Medicine
      DepartmentNeurology

      InstitutionUMMS - School of Medicine
      DepartmentPathology

      InstitutionUMMS - School of Medicine
      DepartmentPediatrics

      InstitutionUMMS - Graduate School of Biomedical Sciences
      DepartmentInterdisciplinary Graduate Program

      InstitutionUMMS - Graduate School of Biomedical Sciences
      DepartmentNeuroscience

      InstitutionUMMS - Programs, Centers and Institutes
      DepartmentShriver Center

        Overview 
        Narrative

        Academic Background

        Edward Ginns completed his PhD in Physical Chemistry at Rensselaer Polytechnic Institute in NY, and went on to receive his MD from Johns Hopkins School of Medicine. Following a Medical Internship at Baltimore City Hospital, he trained in Neurology at Albert Einstein College of Medicine, NY. In 1980 he joined the Developmental and Metabolic Neurology Branch, NINDS in Bethesda where he became a tenured Senior Investigator Neurologist in the Molecular and Medical Genetics Section. In 1986 Dr. Ginns transferred to NIMH as Chief, Section on Molecular Neurogenetics, NIMH. In 2000 he was recruited to the University of Massachusetts Medical School from the Intramural Research Program of NIMH where he was Chief, Clinical Neuroscience Branch and Supervising Scientist of the NIMH Transgenic and Targeted Gene Modified Mouse Resource. At the University of Massachusetts Medical School Dr. Ginns is Director of the Molecular Diagnostics Laboratory and the Gaucher Disease Research and Treatment Center. He is Professor of Pediatrics, Neurology, Clinical Pathology and the Program in Neuroscience. Dr. Ginns is board certified in Neurology with a special interest in medical genetics. He is an elected member of the American College of Neuropsychopharmacology.

        Research Areas

        edward ginns

        Program in Medical Genetics: Our research is directed toward identifying and understanding the consequences of gene mutations on protein and cell function in inherited human disease. Cell biological and molecular genetic approaches are used in conjunction with clinical studies to obtain a better understanding of gene expression and the molecular pathology of selected Mendelian and complex trait diseases, including lysosomal storage disorders, Ellis van-Creveld syndrome, and manic-depressive illness. In diseases where genes and mutations are still unknown, molecular markers that reveal biologically significant chromosome variations are playing an increasing role in understanding the genomic heterogeneity that underlies human phenotypic variability and susceptibility to disease, as well as response to pharmacologic treatments. Recent advances in technology have led to the identification of enormous numbers of single nucleotide polymorphisms, SNPs, that frequently occur in the genome. Together with microsatellite markers, SNPs comprise an important tool for locating inherited components of disease. Our research takes advantage of this technology to study SNP variation that is relevant to human health and disease. Research projects reflect a “bench to bedside” approach, combining efforts from interdisciplinary investigations on humans and model systems, such as genetically altered mice. Our studies uncover new information about gene function in human development, health and disease that can lead to improved diagnosis and treatment.

        Lysosomal Storage Disorders:Gaucher Disease, Fabry Disease, Niemann-Pick Disease, Pompe Disease, Tay-Sachs Disease and the Mucopolysaccharidoses are among the most commonly encountered of disorders collectively referred to as lysosomal storage disorders. The molecular pathology and symptoms are a consequence of functional deficiencies of a lysosomal protein/enzyme, that results in the accumulation of various substrates within cells of the reticuloendothelial system. When the substrate build-up sufficiently interferes with cellular function in organs, symptoms appear, and the skeleton, spleen, liver, kidney, heart, lung, nervous system and skin may be affected to different degrees in the different diseases. Enzyme replacement therapy is available for several of the lysosomal storage disorders. Our research focuses on Gaucher disease as a prototypic lysosomal storage disorder. Projects include a) the characterization of the molecular pathology and clinical course in patients and mouse models of Gaucher disease; and b) the development of an orally administered macrophage delivered gene therapy for Gaucher disease and other lysosomal disorders.

        Ellis-van Creveld syndrome: Ellis–van Creveld syndrome, EvC, is an autosomal recessively inherited chondrodysplastic dwarfism frequently associated with congenital heart disease. The clinical manifestations of EvC syndrome include short-limbed dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Mutations in the EVC gene on chromosome 4p16 were first reported in individuals with EvC in the Old Order Amish and other cases fromMexico, Equador, and Brazil. More recently, we identified a novel gene the region 5' to EVC that is mutated in an Ashkenazi child with EvC. Our finding that mutations in either the EVC or EVC2 gene result in Ellis–van Creveld syndrome adds another dimension to the clinical diagnosis of EvC, as well as to the interpretation of genetic information used for prenatal diagnosis andgenetic counseling. Research focuses on studies of gene expression for both normal and mutant EVC and EVC2 genes in humans and mouse models.

        Search for Genes Involved in Manic Depressive Illness in the Old Order Amish: This research project focuses on identifying the contribution of genetic components to susceptibility or protection from manic-depressive illness (bipolar disorder; BPAD). In collaboration with Dr. Janice Egeland, genome mapping and candidate gene studies are carried out on samples from individuals in an Old Order Amish pedigree who are at very high risk for manic-depressive illness.

        Molecular Diagnostics Laboratory



        Rotation Projects

        Potential Rotation Projects

        Development of an Osteoprotegerin Gene Therapy to Increase Bone Density

        An orally administered gene therapy using macrophage targeted yeast cell wall particles containing DNA encoding human osteoprotegerin, OPG, is being developed to increase bone density and quality by reducing the extent of osteoclast mediated bone resorption. Low bone mass such as osteoporosis is a major health risk for millions of women and men, predisposing individuals to bone fractures, as well as sequelae including stroke and an accelerated decrease in quality of life. Administration of OPG improves the clinical manifestations of bone loss, but current formulations of OPG proteins must be recombinantly produced and intravenously administered. It is anticipated that the improved delivery of OPG to macrophages and osteoclasts in bone by this gene therapy approach will produce increased bone density as a result of reduced bone resorption. The proposed studies will assess the in-vivo impact of this therapeutic approach to improve the skeletal manifestations of low bone density and excessive bone resorption.

        Development of an Orally Administered Gene Therapy for Gaucher Disease

        An orally administered gene therapy is being been developed as a next generation therapeutic to restore normal enzymatic activity in Gaucher disease, the most common lysosomal storage disorder. This approach uses yeast cell wall particles containing DNA or RNA encoding human glucocerebrosidase to restore normal enzyme in-vivo in Gaucher mice. The skeletal and central nervous system complications of Gaucher disease still present an enormous challenge for current enzyme and gene replacement therapies. Despite the successes of gene therapy strategies in animal models, the clinical trials conducted to date have generally resulted in low levels of gene expression. Studies will determine the extent of improvement in enzyme levels in macrophages and tissues of treated Gaucher mice, the extent of reversal of lipid storage and tissue pathology and impact on survival. We anticipate that this approach will provide improved delivery of human glucocerebrosidase to many tissues, including bone. If macrophages containing human glucocerebrosidase migrate into brain, the resulting increased enzyme levels could provide clinical benefit for the neurological manifestations of Gaucher disease. The successful development of this therapeutic strategy should provide a safer, more efficient and cost effective treatment for patients with Gaucher disease, as well as providing a prototype of therapy to benefit those having a wide range of other lysosomal diseases.

        Identification of Gene Mutations Causing Human Disease

        Genetic studies are carried out to obtain a better understanding of the molecular basis of human diseases by identifying correlations between molecular variations and clinical manifestations. Examples of clinical research projects with molecular components include: psychiatric disorders (manic-depressive illness; schizophrenia); Gaucher disease and other inherited metabolic disorders; and, Ellis van-Creveld dwarfism.



        Post Docs

        Postdoctoral Position Available

        A postdoctoral position (PhD, MD, and/or DVM) is available on gene transfer for treatment of genetic diseases. Current projects are focused on preclinical gene therapy for lysosomal storage diseases and bone disorders. The successful applicant should be highly motivated and have a strong background in molecular and cell biological techniques. Interested applicants should email or fax a CV including contact information for three references to:

        Edward I. Ginns, MD, PhD
        Molecular Diagnostics Laboratory

        University of Massachusetts Medical School
        Reed Rose and Gordon Building, Room 137
        222 Maple Avenue
        Shrewsbury, MA01545
        Email: Edward.Ginns@umassmed.edu

        FAX: 508.856.8145

        The University of Massachusetts Medical School is an Equal Employment Opportunity/Affirmative Action Institution.



        Bibliographic 
        selected publications
        List All   |   Timeline
        1. Moya PR, Dodman NH, Timpano KR, Rubenstein LM, Rana Z, Fried RL, Reichardt LF, Heiman GA, Tischfield JA, King RA, Galdzicka M, Ginns EI, Wendland JR. Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes. Eur J Hum Genet. 2013 Aug; 21(8):850-4.
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        2. Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E. Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications. Mol Genet Metab. 2011 Dec; 104(4):631-6.
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        3. Mellios N, Galdzicka M, Ginns E, Baker SP, Rogaev E, Xu J, Akbarian S. Gender-Specific Reduction of Estrogen-Sensitive Small RNA, miR-30b, in Subjects With Schizophrenia. Schizophr Bull. 2012 May; 38(3):433-43.
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        4. Dodman NH, Karlsson EK, Moon-Fanelli A, Galdzicka M, Perloski M, Shuster L, Lindblad-Toh K, Ginns EI. A canine chromosome 7 locus confers compulsive disorder susceptibility. Mol Psychiatry. 2010 Jan; 15(1):8-10.
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        5. Huff MO, Li XP, Ginns E, El-Mallakh RS. Effect of ethacrynic acid on the sodium- and potassium-activated adenosine triphosphatase activity and expression in Old Order Amish bipolar individuals. J Affect Disord. 2010 Jun; 123(1-3):303-7.
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        6. Mellios N, Huang HS, Baker SP, Galdzicka M, Ginns E, Akbarian S. Molecular determinants of dysregulated GABAergic gene expression in the prefrontal cortex of subjects with schizophrenia. Biol Psychiatry. 2009 Jun 15; 65(12):1006-14.
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        7. Sidransky E, LaMarca ME, Ginns EI. Therapy for Gaucher disease: don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb; 90(2):122-5.
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        8. Visscher PM, Haley CS, Ewald H, Mors O, Egeland J, Thiel B, Ginns E, Muir W, Blackwood DH. Joint multi-population analysis for genetic linkage of bipolar disorder or "wellness" to chromosome 4p. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5; 133B(1):18-24.
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        9. Liu Z, Richmond BJ, Murray EA, Saunders RC, Steenrod S, Stubblefield BK, Montague DM, Ginns EI. DNA targeting of rhinal cortex D2 receptor protein reversibly blocks learning of cues that predict reward. Proc Natl Acad Sci U S A. 2004 Aug 17; 101(33):12336-41.
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        10. Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. 2002 Dec; 77(4):291-5.
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        11. Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab. 2002 Aug; 76(4):262-70.
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        12. Wersinger SR, Ginns EI, O'Carroll AM, Lolait SJ, Young WS. Vasopressin V1b receptor knockout reduces aggressive behavior in male mice. Mol Psychiatry. 2002; 7(9):975-84.
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        13. Philibert RA, Cheung D, Welsh N, Damschroder-Williams P, Thiel B, Ginns EI, Gershenfeld HK. Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish. Am J Med Genet. 2001 Apr 8; 105(3):291-4.
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        14. Yan WL, Guan XY, Green ED, Nicolson R, Yap TK, Zhang J, Jacobsen LK, Krasnewich DM, Kumra S, Lenane MC, Gochman P, Damschroder-Williams PJ, Esterling LE, Long RT, Martin BM, Sidransky E, Rapoport JL, Ginns EI. Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21. Am J Med Genet. 2000 Dec 4; 96(6):749-53.
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        15. Stone DL, Tayebi N, Coble C, Ginns EI, Sidransky E. Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease. J Med Genet. 2000 Nov; 37(11):E40.
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        16. Fabrega S, Durand P, Codogno P, Bauvy C, Delomenie C, Henrissat B, Martin BM, McKinney C, Ginns EI, Mornon JP, Lehn P. Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells. Glycobiology. 2000 Nov; 10(11):1217-24.
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        17. Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res. 2000 Aug; 48(2):233-7.
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        18. Stone DL, Ginns EI, Krasnewich D, Sidransky E. Life-threatening splenic hemorrhage in two patients with Gaucher disease. Am J Hematol. 2000 Jun; 64(2):140-2.
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        19. Philibert RA, Winfield SL, Sandhu HK, Martin BM, Ginns EI. The structure and expression of the human neuroligin-3 gene. Gene. 2000 Apr 4; 246(1-2):303-10.
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        20. Young WS, Iacangelo A, Luo XZ, King C, Duncan K, Ginns EI. Transgenic expression of green fluorescent protein in mouse oxytocin neurones. J Neuroendocrinol. 1999 Dec; 11(12):935-9.
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        21. Philibert RA, Winfield SL, Damschroder-Williams P, Tengstrom C, Martin BM, Ginns EI. The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA). Hum Genet. 1999 Jul-Aug; 105(1-2):174-8.
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        22. Fernandez T, Yan WL, Hamburger S, Rapoport JL, Saunders AM, Schapiro M, Ginns EI, Sidransky E. Apolipoprotein E alleles in childhood-onset schizophrenia. Am J Med Genet. 1999 Apr 16; 88(2):211-3.
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        23. Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet. 1999 Apr; 104(4):293-300.
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        24. Moriniere S, Saada C, Holbert S, Sidransky E, Galat A, Ginns E, Rapoport JL, Neri C. Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia? Mol Psychiatry. 1999 Jan; 4(1):58-63.
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        25. Ginns EI, St Jean P, Philibert RA, Galdzicka M, Damschroder-Williams P, Thiel B, Long RT, Ingraham LJ, Dalwaldi H, Murray MA, Ehlert M, Paul S, Remortel BG, Patel AP, Anderson MC, Shaio C, Lau E, Dymarskaia I, Martin BM, Stubblefield B, Falls KM, Carulli JP, Keith TP, Fann CS, Lacy LG, Allen CR, Hostetter AM, Elston RC, Schork NJ, Egeland JA, Paul SM. A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish. Proc Natl Acad Sci U S A. 1998 Dec 22; 95(26):15531-6.
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        26. Tenhunen K, Uusitalo A, Autti T, Joensuu R, Kettunen M, Kauppinen RA, Ikonen S, LaMarca ME, Haltia M, Ginns EI, Jalanko A, Peltonen L. Monitoring the CNS pathology in aspartylglucosaminuria mice. J Neuropathol Exp Neurol. 1998 Dec; 57(12):1154-63.
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        27. Castellanos FX, Lau E, Tayebi N, Lee P, Long RE, Giedd JN, Sharp W, Marsh WL, Walter JM, Hamburger SD, Ginns EI, Rapoport JL, Sidransky E. Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses. Mol Psychiatry. 1998 Sep; 3(5):431-4.
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        28. Philibert RA, King BH, Winfield S, Cook EH, Lee YH, Stubblefield B, Damschroder-Williams P, Dea C, Palotie A, Tengstrom C, Martin BM, Ginns EI. Association of an X-chromosome dodecamer insertional variant allele with mental retardation. Mol Psychiatry. 1998 Jul; 3(4):303-9.
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        29. Burgess CE, Lindblad K, Sidransky E, Yuan QP, Long RT, Breschel T, Ross CA, McInnis M, Lee P, Ginns EI, Lenane M, Kumra S, Jacobsen L, Rapoport JL, Schalling M. Large CAG/CTG repeats are associated with childhood-onset schizophrenia. Mol Psychiatry. 1998 Jul; 3(4):321-7.
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        30. Sidransky E, Burgess C, Ikeuchi T, Lindblad K, Long RT, Philibert RA, Rapoport J, Schalling M, Tsuji S, Ginns EI. A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. Am J Hum Genet. 1998 Jun; 62(6):1548-51.
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        31. Jacobsen LK, Mittleman BB, Kumra S, Lenane MC, Barracchini KC, Adams S, Simonis T, Lee PR, Long RT, Sharp W, Sidransky E, Ginns EI, Rapoport JL. HLA antigens in childhood onset schizophrenia. Psychiatry Res. 1998 May 8; 78(3):123-32.
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        32. Krasnewich D, Dietrich K, Bauer L, Ginns EI, Sidransky E, Hill S. Splenectomy in Gaucher disease: new management dilemmas. Blood. 1998 Apr 15; 91(8):3085-7.
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        33. Yan W, Jacobsen LK, Krasnewich DM, Guan XY, Lenane MC, Paul SP, Dalwadi HN, Zhang H, Long RT, Kumra S, Martin BM, Scambler PJ, Trent JM, Sidransky E, Ginns EI, Rapoport JL. Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired". Am J Med Genet. 1998 Feb 7; 81(1):41-3.
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        34. Jalanko A, Tenhunen K, McKinney CE, LaMarca ME, Rapola J, Autti T, Joensuu R, Manninen T, Sipilä I, Ikonen S, Riekkinen P, Ginns EI, Peltonen L. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet. 1998 Feb; 7(2):265-72.
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        35. Kyriakides TR, Zhu YH, Smith LT, Bain SD, Yang Z, Lin MT, Danielson KG, Iozzo RV, LaMarca M, McKinney CE, Ginns EI, Bornstein P. Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J Cell Biol. 1998 Jan 26; 140(2):419-30.
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        36. Philibert RA, Horelli-Kuitunen N, Robb AS, Lee YH, Long RT, Damschroder-Williams P, Martin BM, Brennan MB, Palotie A, Ginns EI. The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones. Eur J Hum Genet. 1998 Jan; 6(1):89-94.
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        37. Young WS, Shepard E, DeVries AC, Zimmer A, LaMarca ME, Ginns EI, Amico J, Nelson RJ, Hennighausen L, Wagner KU. Targeted reduction of oxytocin expression provides insights into its physiological roles. Adv Exp Med Biol. 1998; 449:231-40.
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        38. Sidransky E, Ginns EI. Gaucher's disease: the best laid schemes of mice and men. Baillieres Clin Haematol. 1997 Dec; 10(4):725-37.
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        39. Wagner KU, Young WS, Liu X, Ginns EI, Li M, Furth PA, Hennighausen L. Oxytocin and milk removal are required for post-partum mammary-gland development. Genes Funct. 1997 Nov; 1(4):233-44.
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        40. Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res. 1997 Oct; 7(10):1020-6.
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        41. Sidransky E, Ginns EI. Gaucher disease plus. J Med Genet. 1997 Oct; 34(10):876-7.
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        42. Philibert RA, Egeland JA, Paul SM, Ginns EI. The inheritance of bipolar affective disorder: abundant genes coming together. J Affect Disord. 1997 Mar; 43(1):1-3.
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        43. Young WS, Shepard E, Amico J, Hennighausen L, Wagner KU, LaMarca ME, McKinney C, Ginns EI. Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition. J Neuroendocrinol. 1996 Nov; 8(11):847-53.
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        44. Long GL, Winfield S, Adolph KW, Ginns EI, Bornstein P. Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics. 1996 Apr 15; 33(2):177-84.
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        45. Tayebi N, Herman J, Ginns EI, Sidransky E. Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C. Biochem Mol Med. 1996 Apr; 57(2):149-51.
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        46. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, Weissenbachoff J, Carulli JP, Falls KM, Keith TP, Paul SM. A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet. 1996 Apr; 12(4):431-5.
          View in: PubMed
        47. Sidransky E, Fartasch M, Lee RE, Metlay LA, Abella S, Zimran A, Gao W, Elias PM, Ginns EI, Holleran WM. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res. 1996 Jan; 39(1):134-41.
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        48. Sidransky E, Ginns EI. Genetic basis of Gaucher disease. J Pediatr. 1995 Sep; 127(3):510.
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        49. Willemsen R, Tibbe JJ, Kroos MA, Martin BM, Reuser AJ, Ginns EI. A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver. Histochem J. 1995 Aug; 27(8):639-46.
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        50. Sidransky E, Tayebi N, Ginns EI. Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling. Clin Pediatr (Phila). 1995 Jul; 34(7):365-71.
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        51. Adolph KW, Long GL, Winfield S, Ginns EI, Bornstein P. Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics. 1995 May 20; 27(2):329-36.
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        52. Bornstein P, McKinney CE, LaMarca ME, Winfield S, Shingu T, Devarayalu S, Vos HL, Ginns EI. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1995 May 9; 92(10):4547-51.
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        53. Philibert RA, Hawkins GA, Damschroder-Williams P, Stubblefield BK, Martin BM, Ginns EI. Direct sequencing of trinucleotide repeats from cosmid genomic DNA template. Anal Biochem. 1995 Mar 1; 225(2):372-4.
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        54. Sidransky E, Ginns EI, Westman JA, Ehmann WC. Pathologic fractures may develop in Gaucher patients receiving enzyme replacement therapy. Am J Hematol. 1994 Nov; 47(3):247-9.
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        55. Sidransky E, Dietrich KM, Ginns EI. False-positive pregnancy tests in Gaucher's disease. Lancet. 1994 Oct 22; 344(8930):1156.
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        56. Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, Elias PM, Sidransky E. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest. 1994 Apr; 93(4):1756-64.
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        57. Sidransky E, Bottler A, Stubblefield B, Ginns EI. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat. 1994; 3(1):25-8.
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        58. Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI. A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Gene. 1993 Dec 22; 136(1-2):365-8.
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        59. Hiraiwa M, O'Brien JS, Kishimoto Y, Galdzicka M, Fluharty AL, Ginns EI, Martin BM. Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). Arch Biochem Biophys. 1993 Jul; 304(1):110-6.
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        60. Sidransky E, Martin B, Ginns EI. Treatment of Gaucher's disease. N Engl J Med. 1993 May 27; 328(21):1566; author reply 1567.
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        61. Sidransky E, Ginns EI. Clinical heterogeneity among patients with Gaucher's disease. JAMA. 1993 Mar 3; 269(9):1154-7.
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        62. Ginns EI, Egeland JA, Allen CR, Pauls DL, Falls K, Keith TP, Paul SM. Update on the search for DNA markers linked to manic-depressive illness in the Old Order Amish. J Psychiatr Res. 1992 Oct; 26(4):305-8.
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        63. Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res. 1992 Oct; 32(4):494-8.
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        64. Sidransky E, Ginns EI. Erythropoietin levels in Gaucher patients. Am J Hematol. 1992 Jun; 40(2):153-4.
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        65. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI. DNA mutation analysis of Gaucher patients. Am J Med Genet. 1992 Feb 1; 42(3):331-6.
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        66. Sidransky E, Ginns EI, Frenkel E, Benear JB. Anemic Gaucher patients with elevated endogenous erythropoietin levels may not respond to recombinant erythropoietin therapy. Blood. 1992 Jan 15; 79(2):532-3.
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        67. Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI. Gaucher patients with oculomotor abnormalities do not have a unique genotype. Clin Genet. 1992 Jan; 41(1):1-5.
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        68. Tanaka H, Ishikawa A, Ginns EI, Miyatake T, Tsuji S. Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11. Neurology. 1991 May; 41(5):719-22.
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        69. Wall SJ, Yasuda RP, Hory F, Flagg S, Martin BM, Ginns EI, Wolfe BB. Production of antisera selective for m1 muscarinic receptors using fusion proteins: distribution of m1 receptors in rat brain. Mol Pharmacol. 1991 May; 39(5):643-9.
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        70. Montpied P, Ginns EI, Martin BM, Roca D, Farb DH, Paul SM. gamma-Aminobutyric acid (GABA) induces a receptor-mediated reduction in GABAA receptor alpha subunit messenger RNAs in embryonic chick neurons in culture. J Biol Chem. 1991 Apr 5; 266(10):6011-4.
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        71. Freed WJ, Poltorak M, Takashima H, LaMarca ME, Ginns EI. Brain grafts and Parkinson's disease. J Cell Biochem. 1991 Mar; 45(3):261-7.
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        72. Montpied P, Morrow AL, Karanian JW, Ginns EI, Martin BM, Paul SM. Prolonged ethanol inhalation decreases gamma-aminobutyric acidA receptor alpha subunit mRNAs in the rat cerebral cortex. Mol Pharmacol. 1991 Feb; 39(2):157-63.
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        73. Sidransky E, Maysak K, Ginns EI. Mutations in Gaucher's disease detected by MspI. Lancet. 1990 Sep 8; 336(8715):628-9.
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        74. Freed WJ, Geller HM, Poltorak M, Cannon-Spoor HE, Cottingham SL, LaMarca ME, Schultzberg M, Rehavi M, Paul S, Ginns EI. Genetically altered and defined cell lines for transplantation in animal models of Parkinson's disease. Prog Brain Res. 1990; 82:11-21.
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        75. Montpied P, Ginns EI, Martin BM, Stetler D, O'Carroll AM, Lolait SJ, Mahan LC, Paul SM. Multiple GABAA receptor alpha subunit mRNAs revealed by developmental and regional expression in rat, chicken and human brain. FEBS Lett. 1989 Nov 20; 258(1):94-8.
          View in: PubMed
        76. Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G, et al. Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature. 1989 Nov 16; 342(6247):238-43.
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        77. Martin BM, Sidransky E, Ginns EI. Gaucher's disease: advances and challenges. Adv Pediatr. 1989; 36:277-306.
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        78. Hamid QA, Bishop AE, Springall DR, Adams C, Polak JM, Quaba AA, al Nafussi AA, Marangos PJ, Ginns E. Neuron-specific enolase and its mRNA are highly expressed in large congenital nevi: a study using immunocytochemistry, biochemical assay, and in situ hybridization. J Mol Neurosci. 1989; 1(2):85-91.
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        79. Montpied P, Martin BM, Cottingham SL, Stubblefield BK, Ginns EI, Paul SM. Regional distribution of the GABAA/benzodiazepine receptor (alpha subunit) mRNA in rat brain. J Neurochem. 1988 Nov; 51(5):1651-4.
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        80. Kelsoe JR, Stubblefield BK, Ginns EI. Human tyrosine hydroxylase (TH) genomic fragment (pHGTH4) identifies a PstI polymorphism. Nucleic Acids Res. 1988 Aug 11; 16(15):7760.
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        81. Ginns EI, Rehavi M, Martin BM, Weller M, O'Malley KL, LaMarca ME, McAllister CG, Paul SM. Expression of human tyrosine hydroxylase cDNA in invertebrate cells using a baculovirus vector. J Biol Chem. 1988 May 25; 263(15):7406-10.
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        82. Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci U S A. 1988 Apr; 85(7):2349-52.
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        83. Aerts JM, Schram AW, Strijland A, van Weely S, Jonsson LM, Tager JM, Sorrell SH, Ginns EI, Barranger JA, Murray GJ. Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation. Biochim Biophys Acta. 1988 Mar 17; 964(3):303-8.
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        84. Martin BM, Tsuji S, LaMarca ME, Maysak K, Eliason W, Ginns EI. Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA. 1988 Mar; 7(2):99-106.
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        85. Ionasescu V, Burns T, Ionasescu R, Searby C, Ginns E. Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. Cytogenet Cell Genet. 1988; 47(3):173-4.
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        86. Kim YS, Thomas JW, Tillakaratne NJ, Montpied P, Suzdak PD, Banner C, Ginns E, Tobin AJ, Paul SM. Glutamic acid decarboxylase mRNA in rat brain: regional distribution and effects of intrastriatal kainic acid. Brain Res. 1987 Dec; 427(1):77-82.
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        87. O'Malley KL, Anhalt MJ, Martin BM, Kelsoe JR, Winfield SL, Ginns EI. Isolation and characterization of the human tyrosine hydroxylase gene: identification of 5' alternative splice sites responsible for multiple mRNAs. Biochemistry. 1987 Nov 3; 26(22):6910-4.
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        88. Tsuji S, Martin BM, Kaslow DC, Migeon BR, Choudary PV, Stubbleflied BK, Mayor JA, Murray GJ, Barranger JA, Ginns EI. Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem. 1987 Jun 1; 165(2):275-80.
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        89. Schmechel DE, Marangos PJ, Martin BM, Winfield S, Burkhart DS, Roses AD, Ginns EI. Localization of neuron-specific enolase (NSE) mRNA in human brain. Neurosci Lett. 1987 May 6; 76(2):233-8.
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        90. Jonsson LM, Murray GJ, Sorrell SH, Strijland A, Aerts JF, Ginns EI, Barranger JA, Tager JM, Schram AW. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem. 1987 Apr 1; 164(1):171-9.
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        91. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 1987 Mar 5; 316(10):570-5.
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        92. Ruff MR, Martin BM, Ginns EI, Farrar WL, Pert CB. CD4 receptor binding peptides that block HIV infectivity cause human monocyte chemotaxis. Relationship to vasoactive intestinal polypeptide. FEBS Lett. 1987 Jan 19; 211(1):17-22.
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        93. Hitchcock MJ, Ginns EI, Marcus-Sekura CJ. Microinjection into Xenopus oocytes: equipment. Methods Enzymol. 1987; 152:276-84.
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        94. Willemsen R, van Dongen JM, Ginns EI, Sips HJ, Schram AW, Tager JM, Barranger JA, Reuser AJ. Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry. J Neurol. 1987 Jan; 234(1):44-51.
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        95. Choudary PV, Barranger JA, Tsuji S, Mayor J, LaMarca ME, Cepko CL, Mulligan RC, Ginns EI. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts. Mol Biol Med. 1986 Jun; 3(3):293-9.
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        96. Tsuji S, Choudary PV, Martin BM, Winfield S, Barranger JA, Ginns EI. Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem. 1986 Jan 5; 261(1):50-3.
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        97. Choudary PV, Tsuji S, Martin BM, Guild BC, Mulligan RC, Murray GJ, Barranger JA, Ginns EI. The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 2:1047-52.
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        98. Rappeport JM, Barranger JA, Ginns EI. Bone marrow transplantation in Gaucher disease. Birth Defects Orig Artic Ser. 1986; 22(1):101-9.
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        99. Erickson AH, Ginns EI, Barranger JA. Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem. 1985 Nov 15; 260(26):14319-24.
          View in: PubMed
        100. van Dongen JM, Willemsen R, Ginns EI, Sips HJ, Tager JM, Barranger JA, Reuser AJ. The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study. Eur J Cell Biol. 1985 Nov; 39(1):179-89.
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        101. Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, Barranger JA. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1985 Oct; 82(20):7101-5.
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        102. Aerts JM, Donker-Koopman WE, van der Vliet MK, Jonsson LM, Ginns EI, Murray GJ, Barranger JA, Tager JM, Schram AW. The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen. Eur J Biochem. 1985 Aug 1; 150(3):565-74.
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        103. Ginns EI, Choudary PV, Martin BM, Winfield S, Stubblefield B, Mayor J, Merkle-Lehman D, Murray GJ, Bowers LA, Barranger JA. Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system. Biochem Biophys Res Commun. 1984 Sep 17; 123(2):574-80.
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        104. Rappeport JM, Ginns EI. Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med. 1984 Jul 12; 311(2):84-8.
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        105. Ginns EI, Barranger JA, McClean SW, Sliva C, Young R, Schaefer E, Goodman SI, McCabe ER. A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J Pediatr. 1984 May; 104(5):736-9.
          View in: PubMed
        106. Pirruccello S, Barranger JA, Barton NW, Brady RO, Ginns EI. Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease. Biochem Med. 1984 Feb; 31(1):73-9.
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        107. Barneveld RA, Tegelaers FP, Ginns EI, Visser P, Laanen EA, Brady RO, Galjaard H, Barranger JA, Reuser AJ, Tager JM. Monoclonal antibodies against human beta-glucocerebrosidase. Eur J Biochem. 1983 Aug 15; 134(3):585-9.
          View in: PubMed
        108. Ginns EI, Tegelaers FP, Barneveld R, Galjaard H, Reuser AJ, Brady RO, Tager JM, Barranger JA. Determination of Gaucher's disease phenotypes with monoclonal antibody. Clin Chim Acta. 1983 Jul 15; 131(3):283-7.
          View in: PubMed
        109. Ginns EI, Erickson A, Tegelaers FP, Barneveld R, Reuser AJ, Brady RO, Tager JM, Barranger JA. Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes. Isozymes Curr Top Biol Med Res. 1983; 11:83-93.
          View in: PubMed
        110. Barneveld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO, Barranger JA, Tager JM, Galjaard H, Westerveld A, Reuser AJ. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet. 1983; 64(3):227-31.
          View in: PubMed
        111. Ginns EI, Brady RO, Pirruccello S, Moore C, Sorrell S, Furbish FS, Murray GJ, Tager J, Barranger JA. Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci U S A. 1982 Sep; 79(18):5607-10.
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        112. Ginns EI, Brady RO, Stowens DW, Furbish FS, Barranger JA. Glucocerebroside-beta-glucosidase isozymes. Prog Clin Biol Res. 1982; 95:405-14.
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        113. Brady RO, Barranger JA, Furbish FS, Stowens DW, Ginns EI. Prospects for enzyme replacement therapy in Gaucher disease. Prog Clin Biol Res. 1982; 95:669-80.
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        114. Shapiro K, Ginns E, Braden K. GM1 ganglioside concentration in the cerebrospinal fluid of hydrocephalic infants and children. Z Kinderchir. 1981 Dec; 34(4):419-24.
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        115. Ginns EI, Brady RO, Stowens DW, Furbish FS, Barranger JA. A new group of glucocerebrosidase isozymes found in human white blood cells. Biochem Biophys Res Commun. 1980 Dec 16; 97(3):1103-7.
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        116. Ginns E, French J, Fleischman A, Cohen S. GM1 ganglioside concentration in the cerebrospinal fluid of neonates and children. Pediatr Res. 1980 Nov; 14(11):1276-7.
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        117. Ginns E, French J. A radioassay for GM1 ganglioside concentration in cerebrospinal fluid. J Neurochem. 1980 Oct; 35(4):977-82.
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        118. Guarnieri M, Cohen SR, Ginns E. Cells isolated from trypsin-treated brain contain trypsin. J Neurochem. 1976 Jan; 26(1):41-4.
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        119. Ginns E, Guarnieri M. Trypsin bound to sephadex beads. A tool for neuronal cell dissociation. Exp Cell Res. 1976 Jan; 97:42-6.
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        120. Rugh R, Ginns EI, Ho HS, Leach WM. Responses of the mouse to microwave radiation during estrous cycle and pregnancy. Radiat Res. 1975 May; 62(2):225-41.
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