✦ LIBER ✦

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature

✍ Scribed by Maria F. Messina; Sonia Messina; Michele Gaeta; Carmelo Rodolico; Anna M. Salpietro Damiano; Fortunato Lombardo; Giuseppe Crisafulli; Filippo De Luca

Book ID: 113590686
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 672 KB
Volume: 16
Category: Article
ISSN: 1090-3798
DOI: 10.1016/j.ejpn.2011.10.005

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Motoneuron transplantation rescues the p

Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). J Neuroscience 2009; 29: 11761–11771

📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 107 KB

NMP05 Infantile spinal muscular atrophy

NMP05 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in IGHMBP2 gene

✍ N. Barisic; K. von Au; M. Rados; L. Pazanin; S. Galic; M. Cvitkovic; M. Novak; H 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 48 KB

N.P.2 08 Infantile spinal muscular atrop

N.P.2 08 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene

✍ N. Barisic; K. von Au; M. Rados; L. Pazanin; S. Galic; M. Cvitkovic; M. Novak; H 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 49 KB

The ultrastructure of peripheral nerve,

The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1)

✍ Alexander Diers; Marcel Kaczinski; Katja Grohmann; Christoph Hübner; Gisela Stol 📂 Article 📅 2005 🏛 Springer-Verlag 🌐 English ⚖ 841 KB

Clinical and mutational characteristics

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

✍ Stalpers, Xenia L.; Verrips, Aad; Poll-The, Bwee Tien; Cobben, Jan-Maarten; Snoe 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 237 KB