Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Shabnam Salehi-Rad"'
Autor:
José-Mario Capo-Chichi, Andrew Seto, Olivia King, Shabnam Salehi-Rad, Ana Baptista, Grenier Sylvie, Bev Nwachukwu, Anne Tierens, Andrea Arruda, Mark Minden, Adam Smith
Publikováno v:
Cancer Genetics. :20-21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf4350f4282aaf4225dde9b087a6d85b
https://doi.org/10.1016/j.cancergen.2022.10.066
https://doi.org/10.1016/j.cancergen.2022.10.066
Autor:
Joseph M. Brandwein, Niloufar Hosseini, Denis Bailey, Shabnam Salehi-Rad, Shawn Brennan, Kenneth J. Craddock, Anna Porwit
Publikováno v:
Journal of Hematopathology. 7:71-77
The ETV6/FLT3 fusion gene has been recently reported in association with myeloproliferative neoplasm with eosinophilia (MPN-Eo) and peripheral T cell lymphoma. Favorable clinical response to a targeted FLT3 tyrosine kinase inhibitor (FLT3 TKI) was no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea048516693db93ec2ecc745970f1941
https://doi.org/10.1007/s12308-014-0203-6
https://doi.org/10.1007/s12308-014-0203-6
Autor:
Cindy Zadikoff, Shabnam Salehi-Rad, Ana Djarmati, Peter St George-Hyslop, Christine Sato, Christine Klein, Anthony E. Lang, Ekaterina Rogaeva
Publikováno v:
Movement Disorders. 21:875-879
The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d27fbc873d828e28c137bf1b820c69
https://doi.org/10.1002/mds.20854
https://doi.org/10.1002/mds.20854
Autor:
Christopher Morris, Vivianna M. Van Deerlin, Jordan Grafman, Ekaterina Rogaeva, Peter St George-Hyslop, John Hardy, Michael Tierney, Edward D. Huey, Felix Potocnik, Rajesh N. Kalaria, Dana J.H. Niehaus, Wuxing Yuan, Shabnam Salehi-Rad, Jason Bell, Parastoo Momeni, Susan J. van Rensburg, Christine Sato, Toshitaka Kawarai
Publikováno v:
Neurodegenerative Diseases. 3:129-133
A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45f4e53a01e170e9ca108610f93658d7
https://doi.org/10.1159/000094771
https://doi.org/10.1159/000094771
Autor:
T. Kawarai, Anthony E. Lang, T. Al-Khairallah, Christine Sato, G. K. Fisman, Shabnam Salehi-Rad, Coro Paisán-Ruiz, Ekaterina Rogaeva, P. St. George-Hyslop, Amanda Singleton
Publikováno v:
Neurology. 65:696-700
Background: In addition to the four well-confirmed genes linked to early-onset Parkinson disease (PD) (SNCA, PARKIN, DJ-1, and PINK1), mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have recently been identified in families with autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f6711fd2f9ecbf3dc164118d7e2f30
https://doi.org/10.1212/01.wnl.0000167552.79769.b3
https://doi.org/10.1212/01.wnl.0000167552.79769.b3
Autor:
Chiara Rivoiro, Toshitaka Kawarai, Ronald B. Postuma, Ekaterina Rogaeva, Peter St George-Hyslop, Angharad R. Morgan, Christine Sato, Justus L. Groen, Shabnam Salehi-Rad, Anna Toulina, Anthony E. Lang, Yan Liang
Publikováno v:
Neuroscience Letters. 372:226-229
Parkinson's disease (PD) is the most common neurodegenerative movement disorder with a substantial genetic component (which is more pronounced in earlier onset cases). In addition to three well-confirmed PD genes (SNCA, parkin and DJ-1), mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b80e78c4915b745e78f6420c187d7d6
https://doi.org/10.1016/j.neulet.2004.09.043
https://doi.org/10.1016/j.neulet.2004.09.043
Autor:
Peter St George-Hyslop, Antonio Orlacchio, Ekaterina Rogaeva, Toshitaka Kawarai, Giorgio Bernardi, Edwin Yip, Yan Liang, Satoshi Kaneko, Hiroshi Hasegawa, Christine Sato, Shabnam Salehi-Rad
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff2a4796959e234e1f5da82fb65c69a
http://hdl.handle.net/2108/28308
http://hdl.handle.net/2108/28308
Autor:
Hye-Seung Lee, Ekaterina Rogaeva, Yan Meng, Amalia C. Bruni, Sandro Sorbi, Yan Liang, Peter St George-Hyslop, Ranjan Duara, Yosuke Wakutani, Christine Sato, Richard Mayeux, Rong Cheng, Joseph K. T. Lee, Shabnam Salehi-Rad, Lindsay A. Farrer, Porat M. Erlich
Publikováno v:
Alzheimer's & Dementia. 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57f813059605f6176831c34d2ddde300
https://doi.org/10.1016/j.jalz.2006.05.116
https://doi.org/10.1016/j.jalz.2006.05.116
Autor:
Parastoo, Momeni, Ekaterina, Rogaeva, Vivianna, Van Deerlin, Wuxing, Yuan, Jordan, Grafman, Michael, Tierney, Edward, Huey, Jason, Bell, Chris M, Morris, Rajesh N, Kalaria, Susan J, van Rensburg, Dana, Niehaus, Felix, Potocnik, Toshitaka, Kawarai, Shabnam, Salehi-Rad, Christine, Sato, Peter, St George-Hyslop, John, Hardy
Publikováno v:
Neuro-degenerative diseases. 3(3)
A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72d75d76dc416954f1d76a34d9cc0b25
https://pubmed.ncbi.nlm.nih.gov/16954699
https://pubmed.ncbi.nlm.nih.gov/16954699
Publikováno v:
Neuroreport. 16(6)
Direct sequencing of the human cyclooxygenase-2 gene promoter revealed a common single nucleotide substitution, cyclooxygenase-2-765G-->C, in 24.5% of the populations analyzed. This change introduced a 20 base pair polypyrimidine/polypurine element a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e215fdc91fc0142013c1efbc96b1e1c6
https://pubmed.ncbi.nlm.nih.gov/15812311
https://pubmed.ncbi.nlm.nih.gov/15812311