Paola Luzi

TitleAsst Professor
InstitutionThomas Jefferson University
DepartmentNeurology
Address1020 Locust St.
Philadelphia PA 19107
Phone267-918-1677
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Wenger DA, Luzi P, Rafi MA. Advances in the Diagnosis and Treatment of Krabbe Disease. Int J Neonatal Screen. 2021 Aug 18; 7(3). PMID: 34449528.
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    2. Rafi MA, Luzi P, Wenger DA. Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT? Bioimpacts. 2021; 11(2):135-146. PMID: 33842284.
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    3. Wenger DA, Luzi P. The Lysosomal Diseases Testing Laboratory: A review of the past 47?years. JIMD Rep. 2020 Jul; 54(1):61-67. PMID: 32685352.
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    4. Rafi MA, Luzi P, Wenger DA. Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease. Bioimpacts. 2020; 10(2):105-115. PMID: 32363154.
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    5. Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020 Mar 05. PMID: 32134517.
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    6. Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. J Neurosci Res. 2016 Nov; 94(11):1076-83. PMID: 27638593.
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    7. Wenger DA, Rafi MA, Luzi P. Krabbe disease: One Hundred years from the bedside to the bench to the bedside. J Neurosci Res. 2016 Nov; 94(11):982-9. PMID: 27638583.
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    8. Rafi MA, Rao HZ, Luzi P, Wenger DA. Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice. Mol Ther. 2015 Nov; 23(11):1681-90. PMID: 26329589.
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    9. Rafi MA, Rao HZ, Luzi P, Luddi A, Curtis MT, Wenger DA. Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features. Mol Genet Metab. 2015 Mar; 114(3):459-66. PMID: 25533112.
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    10. Gimovsky AC, Luzi P, Berghella V. Lysosomal storage disease as an etiology of nonimmune hydrops. Am J Obstet Gynecol. 2015 Mar; 212(3):281-90. PMID: 25305402.
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    11. Wenger DA, Luzi P, Rafi MA. Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? Mol Genet Metab. 2014 Mar; 111(3):307-8. PMID: 24388568.
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    12. Wenger DA, Luzi P, Rafi MA. Lysosomal storage diseases: heterogeneous group of disorders. Bioimpacts. 2013; 3(4):145-7. PMID: 24455477.
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    13. Luzi P, Rafi MA, Rao HZ, Wenger DA. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene. 2013 Nov 10; 530(2):323-8. PMID: 24001781.
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    14. Rafi MA, Rao HZ, Luzi P, Curtis MT, Wenger DA. Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease. Mol Ther. 2012 Nov; 20(11):2031-42. PMID: 22850681.
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    15. Luzi P, Abraham RM, Rafi MA, Curtis M, Hooper DC, Wenger DA. Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. Brain Res. 2009 Dec 1; 1300:146-58. PMID: 19748497.
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    16. Zaka M, Rafi MA, Rao HZ, Luzi P, Wenger DA. Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway. Mol Cell Neurosci. 2005 Nov; 30(3):398-407. PMID: 16169744.
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    17. Luzi P, Rafi MA, Zaka M, Rao HZ, Curtis M, Vanier MT, Wenger DA. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):150-9. PMID: 16169269.
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    18. Rafi MA, Zhi Rao H, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH, Wenger DA. AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Mol Ther. 2005 May; 11(5):734-44. PMID: 15851012.
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    19. Luzi P, Zaka M, Rao HZ, Curtis M, Rafi MA, Wenger DA. Generation of transgenic mice expressing insulin-like growth factor-1 under the control of the myelin basic protein promoter: increased myelination and potential for studies on the effects of increased IGF-1 on experimentally and genetically induced demyelination. Neurochem Res. 2004 May; 29(5):881-9. PMID: 15139287.
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