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

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

Publikováno v: Neuromuscular Disorders. 31:574-582

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4326212589673e2738fb522e0247b3f2
https://doi.org/10.1016/j.nmd.2021.03.007

Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy using Multiplex Ligation-Dependent Probe Amplification in Rwandan Patients

Autor: Annette Uwineza, Seraphine Murorunkwere, Vinciane Dideberg, Janvier Hitayezu, Leon Mutesa, Jean-Hubert Caberg, Vincent Bours, Janvier Ndinkabandi, Celestin Kaputu Kalala Malu

Publikováno v: Journal of Tropical Pediatrics. 60:112-117

Duchenne and Becker muscular dystrophies are the most common clinical forms of muscular dystrophies. They are genetically X-linked diseases caused by a mutation in the dystrophin (DMD) gene. A genetic diagnosis was carried out in six Rwandan patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab64704c69cafcdd9b6ab93722e56d59
https://doi.org/10.1093/tropej/fmt090

PTSD, depression and anxiety in Ebola virus disease survivors in Beni town, Democratic Republic of the Congo

Autor: Célestin Kaputu-Kalala-Malu, Eric Mafuta Musalu, Tim Walker, Olga Ntumba-Tshitenge, Steve Ahuka-Mundeke

Publikováno v: BMC Psychiatry, Vol 21, Iss 1, Pp 1-8 (2021)

Abstract Background Ebola Virus Disease (EVD) is a deadly and feared infectious disease, which can be responsible of debilitating physical and psychological sequelae in survivors including depression and anxiety disorders. Unfortunately, there are sc

Externí odkaz: https://doaj.org/article/9f8805ae94aa48f694c86c595f23ef56

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