Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Mehrdad Asghari-Estiar"'
Autor:
Parviz Saleh, Mehrdad Asghari-Estiar, Zoleikha Asgarlou, Behjat Shokrvash, Fatemeh Abbasalizadeh, Ebrahim Sakhinia, Fatemeh Mallah, Reza Piri, Mohammad Naghavi-Behzad
Publikováno v:
Journal of Analytical Research in Clinical Medicine, Vol 2, Iss 4, Pp 193-196 (2014)
Introduction: One of the causes of recurrent spontaneous abortions (RSA) is an infection by the toxoplasmosis Protozoa. In comparison, we present detailed results using real-time polymerase chain reaction (PCR) methods of detection. In this study,
Externí odkaz:
https://doaj.org/article/393d49cd4a0f44c0b985b6268028dec5
Publikováno v:
Cancer Biology & Medicine, Vol 15, Iss 3, Pp 210-227 (2018)
The ATM gene is mutated in the syndrome, ataxia-telangiectasia (AT), which is characterized by predisposition to cancer. Patients with AT have an elevated risk of breast and brain tumors Carrying mutations in ATM, patients with AT have an elevated ri
Externí odkaz:
https://doaj.org/article/646f2ad51846415c9c24e873c18a41c0
Autor:
Grace Yoon, David A. Dyment, Mehrdad Asghari Estiar, Kym M. Boycott, Ziv Gan-Or, Guy A. Rouleau, Meredith K. Gillespie, Parizad Varghaei, Noor Lail, Taila Hartley
Publikováno v:
Annals of Neurology. 91:730-732
Publikováno v:
Journal of Advanced Biomedical Sciences, Vol 4, Iss 2, Pp 154-160 (2014)
Background ; Objectives: Vaccination is one of the best methods of prevention against hepatitis B virus. With respect to various vaccines against this virus and based on the differences of selected factors of immunogenicity, various studies on differ
Externí odkaz:
https://doaj.org/article/888bbe18b6ec435e89a1d42574a86b6f
Publikováno v:
Iranian Journal of Public Health, Vol 45, Iss 10 (2016)
Molecular Analysis of MEFV Gene Polymorphisms and Mutations in Iranian Azeri Patients with Rheumatoid Arthritis
Externí odkaz:
https://doaj.org/article/1ba6839570384080a285b6af4d2c0a86
Autor:
Simon Veyron, Nicolas Dupré, Jean-François Trempe, Mehrdad Asghari Estiar, Grace Yoon, Guy A. Rouleau, Etienne Leveille, Ziv Gan-Or, Parizad Varghaei
Publikováno v:
Clinical Genetics. 100:51-58
GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson's disease (PD) and tetrahydrobiopterin (BH4 )-deficient hyperphenylalaninemia B. Recently, GCH1 mutations have been reported in five patients with hereditary spastic p
Autor:
Mehrdad Asghari Estiar, Oksana Suchowersky, Nicolas Dupré, Fulya Akçimen, Alain Dagher, Mark A. Tarnopolsky, Jean-François Trempe, Jay P. Ross, Ziv Gan-Or, Ikhlass Haj Salem, Guy A. Rouleau, Eric Yu, Dan Spiegelman, Kym M. Boycott, Jennifer A. Ruskey, Farnaz Asayesh, Grace Yoon, Etienne Leveille, Patrick A. Dion, Kheireddin Mufti
Publikováno v:
Movement Disorders. 36:1664-1675
Background Although the typical inheritance of spastic paraplegia 7 is recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant hereditary spastic paraplegia (HSP). Objectives We aimed to conduct an exome-wide ge
Autor:
Christelle Charley Monaca, Gian Luigi Gigli, Wolfgang H. Oertel, Francesco Biscarini, Monica Puligheddu, Michela Figorilli, Uladzislau Rudakou, Yuri L. Sosero, Farnaz Asayesh, Guy A. Rouleau, Jean-François Gagnon, Anna Heidbreder, Jennifer A. Ruskey, Femke Dijkstra, Sandra B. Laurent, Birgit Högl, Claudia Trenkwalder, Michele T.M. Hu, Kheireddin Mufti, Mariarosaria Valente, Abubaker Ibrahim, Jacques Montplaisir, Alex Desautels, Nicholas Oscroft, Lynne Krohn, Friederike Sixel-Döring, Karel Sonka, Timothy Quinnell, Luigi Ferini-Strambi, Francesco Janes, Eric Yu, Ziv Gan-Or, Valérie Cochen De Cock, David Kemlink, Ambra Stefani, Isabelle Arnulf, Andrea Bernardini, Elena Antelmi, Mineke Viaene, Annette Janzen, Beatriz Abril, Giuseppe Plazzi, Dan Spiegelman, Bradley F. Boeve, Brit Mollenhauer, Y. Dauvilliers, Mehrdad Asghari Estiar, Ronald B. Postuma, Jean-François Trempe
Publikováno v:
Journal of Parkinson's Disease
Background: PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy. Objective: To examine the role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15596f0cbeb5e0e24f828b6eb262cb40
http://hdl.handle.net/11390/1220691
http://hdl.handle.net/11390/1220691
Autor:
Leandro Lima, Stephen A. Goutman, Oscar Jackson, Henry Houlden, Menelaos Pipis, Mehrdad Asghari Estiar, Ziv Gan-Or, Kristel R. van Eijk, Rebecca Schüle, Ammar Al-Chalabi, Julia Kaye, Mary M. Reilly, Matthew B. Harms, Stephan Züchner, John Ravits, Jishu Xu, Johnathan Cooper-Knock, Queen Square Genomics, Jonathan Gilley, Matt C. Danzi, Alfredo Iacoangeli, Michael P. Coleman, Guy A. Rouleau
Publikováno v:
eLife, Vol 10 (2021)
eLife 10, e70905 (2021). doi:10.7554/eLife.70905
eLife
eLife 10, e70905 (2021). doi:10.7554/eLife.70905
eLife
SARM1, a protein with critical NADase activity, is a central executioner in a conserved programme of axon degeneration. We report seven rare missense or in-frame microdeletion human SARM1 variant alleles in patients with amyotrophic lateral sclerosis
Autor:
Oksana Suchowersky, Ziv Gan-Or, Setareh Ashtiani, Guy A. Rouleau, Mehrdad Asghari Estiar, Scott McLeod, Ping-Yee Billie Au
Publikováno v:
Clinical Parkinsonism & Related Disorders
Clinical Parkinsonism & Related Disorders, Vol 5, Iss, Pp 100114-(2021)
Clinical Parkinsonism & Related Disorders, Vol 5, Iss, Pp 100114-(2021)
Introduction: Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initiall