Search Results - "spinal muscular atrophy"

Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: A case report by Meiling Pan, Jun Shi, Hongjun Miao, Qin Zhang

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The economic impact of compassionate use of medicines by Claudio Jommi, Federico Pantellini, Lisa Stagi, Maria Verykiou, Marianna Cavazza

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen

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Pertinencia del tamizaje genético en donantes de gametos The pertinence of genetic screening in gamete donors by Claudia J Serrano-Serrano

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SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan by Tomohiko Ishihara, Akihide Koyama, Naoki Atsuta, Mari Tada, Saori Toyoda, Kenta Kashiwagi, Sachiko Hirokawa, Yuya Hatano, Akio Yokoseki, Ryoichi Nakamura, Genki Tohnai, Yuishin Izumi, Ryuji Kaji, Mitsuya Morita, Asako Tamura, Osamu Kano, Masashi Aoki, Satoshi Kuwabara, Akiyoshi Kakita, Gen Sobue, Osamu Onodera

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Pompe disease clinical and laboratory diagnostic features by N.O. Pichkur, N.V. Olkhovych, T.P. Ivanova, N.V. Samonenko

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Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review by Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi

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Manejo de longo prazo em crianças com transtornos neuromusculares Long-term management of children with neuromuscular disorders by Eugen-Matthias Strehle

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Selected Abstracts of the 6th International Congress of UENPS; Valencia (Spain); November 23rd-25th 2016; Session "Neonatology and NICU clinical care and practices" by -

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Selected Abstracts of the 14th International Workshop on Neonatology; Cagliari (Italy); October 24th-27th, 2018 by -

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PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE) by Ирина Анатольевна Ушакова, Нонна Марковна Шибельгут, Игорь Анатольевич Гнусарев, Екатерина Владимировна Литовченко, Вадим Гельевич Мозес, Елена Владимировна Рудаева, Светлана Ивановна Елгина

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Golgi Pathology in Neurodegenerative Diseases by Catherine Rabouille

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Selected Lectures of the 12th International Workshop on Neonatology; Cagliari (Italy); October 19-22, 2016 by -

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