Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
Author:
Affiliation:
1. Dino Ferrari Centre; Neuroscience Section; Department of Pathophysiology and Transplantation (DEPT); University of Milan; Neurology Unit; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico; Milan Italy
Funder
Ministry of Health
FIRB
Publisher
Wiley
Subject
Cell Biology,Molecular Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jcmm.12606/fullpdf
Reference60 articles.
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2. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1;Grohmann;Nat Genet,2001
3. Spinal muscular atrophy with respiratory distress type 1 (SMARD1);Kaindl;J Child Neurol,2008
4. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease;Mellins;Pediatrics,1974
5. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy;Bertini;Am J Med Genet,1989
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