Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Autor: Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan

Publikováno v: In Neuromuscular Disorders June 2021 31(6):574-582

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Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome

Autor: NASIRI, Jafar, SALEHI, Mansoor, HOSSEINZADEH, Majid, ZAMANI, Mahdi, FATTAHPOUR, Shirin, ARYANI, Omid, FAZEL NAJAFABADI, Esmat, JABARZADEH, Maryam, ASADI, Sara, GHOLAMREZAPOUR, Tahereh, SEDGHI, Maryam, GHORBANI, Fatemeh

Publikováno v: Iranian Journal of Child Neurology

Objectives Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f4678d627d8a057a5c7eb5e41349b1ba
http://europepmc.org/articles/PMC6586453

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A Case of MPAN with "Eye of the Tiger Sign," Mimicking PKAN.

Autor: Dehghan Manshadi, Masoumeh, Rohani, Mohammd, Rezaei, Ali, Aryani, Omid

Publikováno v: Movement Disorders Clinical Practice; Jul2022, Vol. 9 Issue 5, p693-695, 3p