Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nicholas B. Martin"'
Autor:
Diego Iacono, Shunsuke Koga, Hui Peng, Arulmani Manavalan, Jessica Daiker, Monica Castanedes-Casey, Nicholas B. Martin, Aimee R. Herdt, Michael H. Gelb, Dennis W. Dickson, Chris W. Lee
Publikováno v:
Neurobiology of Disease, Vol 174, Iss , Pp 105862- (2022)
Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which
Externí odkaz:
https://doaj.org/article/d4cc186bc60040409a03f88f4dcd82c3
Publikováno v:
Movement Disorders Clinical Practice. 10:496-500
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d574fd66b938ac1559e7d7d4f279558e
https://doi.org/10.1002/mdc3.13654
https://doi.org/10.1002/mdc3.13654
Autor:
Axel D. Meneses, Shunsuke Koga, Zonghua Li, Justin O'Leary, Fuyao Li, Kai Chen, Aya Murakami, Wenhui Qiao, Aishe Kurti, Michael G. Heckman, Launia White, Manling Xie, Yixing Chen, Nicole A. Finch, Melina J. Lim, Marion Delenclos, Michael A. DeTure, Cynthia Linares, Nicholas B. Martin, Tadafumi C. Ikezu, Marka M. van Blitterswijk, Long‐Jun Wu, Pamela J. McLean, Rosa Rademakers, Owen A. Ross, Dennis W. Dickson, Guojun Bu, Na Zhao
Publikováno v:
Annals of Neurology. 93:830-843
Recent evidence supports a link between increased TDP-43 burden and the presence of an APOE4 gene allele in Alzheimer's disease (AD); however, it is difficult to conclude the direct effect of APOE on TDP-43 pathology due to the presence of mixed AD p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5abc16fcf71fc09db1e54ab7638e76af
https://doi.org/10.1002/ana.26580
https://doi.org/10.1002/ana.26580
Autor:
Jon-Anders Tunold, Manuela M X Tan, Shunsuke Koga, Hanneke Geut, Annemieke J M Rozemuller, Rebecca Valentino, Hiroaki Sekiya, Nicholas B Martin, Michael G Heckman, Jose Bras, Rita Guerreiro, Dennis W Dickson, Mathias Toft, Wilma van de Berg, Owen A Ross, Lasse Pihlstrøm
Publikováno v:
Brain.
Intraneuronal accumulation of misfolded α-synuclein is the pathological hallmark of Parkinson’s disease and dementia with Lewy bodies, often co-occurring with variable degrees of Alzheimer’s disease related neuropathology. Genetic association st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa77d8833a8f6e0478f6723c840391d7
https://doi.org/10.1093/brain/awad183
https://doi.org/10.1093/brain/awad183
Autor:
Minji Kim, Hiroaki Sekiya, Gary Yao, Nicholas B. Martin, Monica Castanedes-Casey, Dennis W. Dickson, Tae Hyun Hwang, Shunsuke Koga
Neuropathological assessment at autopsy is the gold standard for diagnosing neurodegenerative disorders. We aimed to develop a pipeline for diagnosing Alzheimer's disease and other tauopathies, including corticobasal degeneration, globular glial tauo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0f4c1fdbc9e7379cfcaf2a5f663e46e
https://doi.org/10.21203/rs.3.rs-2459626/v2
https://doi.org/10.21203/rs.3.rs-2459626/v2
Background: As part of the CurePSP brain donation program, a questionnaire was developed to capture basic information from the next-of-kin or someone familiar with the brain donor with respect to symptoms and clinical course. The usefulness of inform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::035f61d6ad357c5175c80d4bd73b9a81
https://doi.org/10.21203/rs.3.rs-2477309/v1
https://doi.org/10.21203/rs.3.rs-2477309/v1
Publikováno v:
Bipolar disordersREFERENCES. 24(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac09f7139938e894ba1a67371b538ca8
https://pubmed.ncbi.nlm.nih.gov/35247222
https://pubmed.ncbi.nlm.nih.gov/35247222
Autor:
Valder R. Arruda, Federico Mingozzi, Shangzhen Zhou, Glenn P. Niemeyer, Julie M. Crudele, Jonathan D. Finn, Clinton D. Lothrop, Joshua I. Siner, Nicholas B. Martin
Publikováno v:
Blood. 125:1553-1561
Emerging successful clinical data on gene therapy using adeno-associated viral (AAV) vector for hemophilia B (HB) showed that the risk of cellular immune response to vector capsid is clearly dose dependent. To decrease the vector dose, we explored AA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a96ba8ccf8257f0704b616a841b61fc5
https://doi.org/10.1182/blood-2014-07-588194
https://doi.org/10.1182/blood-2014-07-588194
Autor:
Robert A. French, Nicholas B. Martin, Timothy C. Nichols, Clinton D. Lothrop, Valder R. Arruda, Glenn P. Niemeyer
Publikováno v:
Blood. 126:3487-3487
Hemophilia B (HB) is an X-linked bleeding disorder caused by a deficiency in Factor IX (FIX). Ongoing gene therapy clinical trials for HB using adeno-associated viral (AAV) vectors targeting the liver have demonstrated sustained FIX expression at the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84f8e8687200be1efabcec3a6ecab803
https://doi.org/10.1182/blood.v126.23.3487.3487
https://doi.org/10.1182/blood.v126.23.3487.3487
Autor:
Federico Mingozzi, Valder R. Arruda, Julie M. Crudele, Jonathan D. Finn, Katherine A. High, Glenn P. Niemeyer, Joshua I. Siner, Nicholas B. Martin, Clinton D. Lothrop, Yifeng Chen, Shangzhen Zhou
Publikováno v:
Blood. 122:4203-4203
Emerging data from early phase clinical studies of AAV gene therapy for hemophilia B (HB) (factor IX [FIX] deficiency) show sustained expression of therapeutic levels of FIX and phenotypic improvement. However, the safety and efficacy of in vivo gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e8c0cf2bdc5f7cc43d9a684b64daf79
https://doi.org/10.1182/blood.v122.21.4203.4203
https://doi.org/10.1182/blood.v122.21.4203.4203