Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

Autor: Francesca Magrinelli, Kailash P. Bhatia, Mehran Beiraghi Toosi, Fatemeh Arab, Ehsan Ghayoor Karimiani, Sahar Sedighzadeh, Behnaz Ansari, Maedeh Neshatdoust, Clarissa Rocca, Henry Houlden, Reza Maroofian

Publikováno v: Movement Disorders Clinical Practice. 10:101-108

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5329f56230d37a001e8bf61a42cbeeea
https://doi.org/10.1002/mdc3.13529

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Autor: Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

Publikováno v: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889

Simulation of the effects of reflective plates on the performance of PR-IR50 polywell device

Autor: Fatemeh Kazemizadeh, Ali Bagheri, Vahid Damideh, Asghar Sedighzadeh

Publikováno v: مجله علوم و فنون هسته‌ای, Vol 36, Iss 2, Pp 74-80 (2015)

In this research, the PR-IR50 polywell device is introduced and its physical processes are simulated using the OOPIC code. The results of the simulation showed that the device reveals special characteristic features for energy particle trapping, and

Externí odkaz: https://doaj.org/article/5ccf5721817547558d10c8421662de89

Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly

Autor: Mina Zamani, Gholamreza Shariati, Hamid Galehdari, Sahar Sadat Sedighzadeh, Neda Mazaheri, Alireza Sedaghat, Tahere Seifi, Jawaher Zeighami

Publikováno v: Congenital Anomalies. 61:220-225

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a rare non-syndromic defect with an autosomal recessive pattern of inheritance. Sequence variants in the BHLHA9 gene cause MSSD and to date only a few mutations in this gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf1a2e641cf7c135cdbe2a44b9078184
https://doi.org/10.1111/cga.12439

Synthesis of nano-fibrous mats using electrospinning method and determining their efficiency for nanoaerososls removal

Autor: Gh Moradi, A Sedighzadeh, R Yarahmadi, Sh Bakand, AA Farshad, B Rezaeifard, M Alamdar khasraghi

Publikováno v: Salāmat-i kār-i Īrān, Vol 11, Iss 4, Pp 1-11 (2014)

Background and aims: Nano-fibrous mats are one of the unique nonwoven materials that have been recently carried out in nanofiltration industry. The aim of this study was to synthesize nano-fibrous path mats using electrospining method following by de

Externí odkaz: https://doaj.org/article/8ed61b4b60d3421795675028ec23f19a