Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Type I Spinal Muscular Atrophy"'
Autor:
E. A. Balakireva, A. V. Slepukhina, P. V. Serikov, O. A. Puchenkova, V. M. Mikhareva, Yu. A. Bagreeva
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 6, Pp 72-75 (2021)
Some of the severe manifestations of Werdnig-Hoffmann disease are the pseudobulbar and bulbar syndromes complicated by the hypotrophy of the various degrees of severity. The clinical case of the nutritional support for the child with grade II hypotro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55628939319a1ca45e955d0928e54b6
https://doi.org/10.21508/1027-4065-2020-65-6-72-75
https://doi.org/10.21508/1027-4065-2020-65-6-72-75
Autor:
Parveen Bhardwaj
Publikováno v:
Journal of Medical Science And clinical Research. 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::423baf340ea53488255c50ae37b9823d
https://doi.org/10.18535/jmscr/v7i6.14
https://doi.org/10.18535/jmscr/v7i6.14
Autor:
Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley
Publikováno v:
Neuromuscular Disorders
Highlights • This paper reports patterns of natural progression in type I SMA. • The HINE is used to capture motor developmental milestones in SMA. • Motor developmental milestones are rarely acquired in type I SMA infants.
The aim of this
The aim of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7714d095011ab42d85620d4e5d2d78
Autor:
Michela Catteruccia, Giuseppe Vita, Eugenio Mercuri, Chiara Bravetti, Beatrice Berti, Sonia Messina, Paola Tacchetti, Adele D'Amico, Valeria A. Sansone, Marco Piastra, Marina Pedemonte, Enrico Bertini, Claudio Bruno, Marika Pane, Roberto De Sanctis, Francesca Salmin, Giorgia Brigati, Maria Sframeli, Simona Lucibello, Giorgia Coratti, Emilio Albamonte, Francesco Danilo Tiziano, Orazio Genovese
OBJECTIVE The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2 months to 15 years and 11 months. METHODS All patients were assessed using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fe5a00f540abc0e7a2bf551663d35e
http://hdl.handle.net/11570/3142754
http://hdl.handle.net/11570/3142754
Publikováno v:
ASSETS
In this paper, we describe a preliminary case study that examines the challenges faced by very young children with Type I Spinal Muscular Atrophy (SMA) and how technology may help these children live a more independent life. Several input solutions w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83ef4f53e30276aebc6887aaea70cdda
https://doi.org/10.1145/3132525.3134772
https://doi.org/10.1145/3132525.3134772
Autor:
F.G. Ogrinc, M. Droege, A. Novack, D.E. Feltner, O. Dabbous, M. Menier, R. Arjunji, F. Khan, B. Maru, Douglas M. Sproule
Publikováno v:
Value in Health Regional Issues. 19:S3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c863533b387fbc34f5715b54e69df52
https://doi.org/10.1016/j.vhri.2019.08.013
https://doi.org/10.1016/j.vhri.2019.08.013
Autor:
M. Menier, O. Dabbous, Marcus Droege, R. Arjunji, D.M. Sproule, D.E. Feltner, F. Khan, B. Maru, F.G. Ogrinc
Publikováno v:
Value in Health. 22:S271
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ab3ad59f34cd28e877643aa89e27714
https://doi.org/10.1016/j.jval.2019.04.1282
https://doi.org/10.1016/j.jval.2019.04.1282
Autor:
R. Dean, M. Menier, Marcus Droege, D.E. Feltner, D.M. Sproule, O. Dabbous, B. Miller, R. Arjunji, F. Khan, I. Jensen
Publikováno v:
Value in Health. 22:S48
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d686c4320c67b2815c82f20ba28264b5
https://doi.org/10.1016/j.jval.2019.04.093
https://doi.org/10.1016/j.jval.2019.04.093
Akademický článek
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Autor:
Toshinori Minato, Sakae Shima, Chieko Hisamatsu, Kosaku Maeda, Michiko Kaji, Kazuhiro Taguchi, Shinsaku Yoshida
Publikováno v:
Japanese Journal of Pediatric Pulmonology. 19:154-163
脊髄性筋萎縮症 (以下SMAと略す) は, 運動ニューロンの変性疾患で, その臨床像は, 四肢と体幹部の近位筋の萎縮を特徴とする。そして呼吸筋の萎縮による呼吸障害の進行が生命予後に影響
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a770550f6b8d766993653d5d91cfe6d3
https://doi.org/10.5701/jjpp.19.154
https://doi.org/10.5701/jjpp.19.154