|1.||Richard, Pascale: 3 articles (01/2014 - 10/2002)|
|2.||Muntoni, Francesco: 3 articles (02/2010 - 10/2002)|
|3.||Merlini, Luciano: 2 articles (01/2014 - 10/2002)|
|4.||Quijano-Roy, Susana: 2 articles (10/2012 - 10/2002)|
|5.||Schoser, Benedikt: 2 articles (02/2012 - 12/2011)|
|6.||Brown, Robert H: 2 articles (01/2012 - 01/2011)|
|7.||Ferreiro, Ana: 2 articles (02/2010 - 10/2002)|
|8.||Mercuri, Eugenio: 2 articles (02/2010 - 10/2002)|
|9.||Voit, Thomas: 2 articles (01/2010 - 10/2002)|
|10.||Goebel, H H: 2 articles (08/2009 - 08/2001)|
|1.||Respiratory Insufficiency (Respiratory Failure)
09/01/1990 - "The pathogenesis and therapy of respiratory failure in the rigid spine syndrome are discussed in two cases who improved with respiratory assistance. "
09/01/2002 - "Rigid spine syndrome with chronic respiratory failure."
05/01/1993 - "A case of rigid spine syndrome presenting with respiratory failure was reported. "
05/01/1993 - "Rigid spine syndrome presenting with respiratory failure--report of one case."
09/01/1991 - "[A case of rigid spine syndrome associated with severe respiratory failure]."
|2.||Muscular Dystrophies (Muscular Dystrophy)
02/01/2000 - "Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study."
11/01/2014 - "Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children."
10/01/2002 - "Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)."
02/01/2000 - "Recently, the first locus for congenital muscular dystrophy in association with rigid spine syndrome was mapped to chromosome 1p35-p36 in consanguineous Moroccan, Turkish, and Iranian families. "
10/01/1999 - "Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome."
|3.||Muscular Diseases (Myopathy)
10/01/2012 - "Abnormalities and pattern recognition were more frequent in patients studied due to rigid spine syndrome (80% abnormal, recognisable in 75% of cases), hyperlaxity syndrome (75%; 50%) or with confirmed myopathy but absence of these markers (71%; 40%). "
01/01/2008 - "Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. "
08/01/2006 - "Patient 4 had a rapidly progressive congenital myopathy with rigid spine syndrome and he died at age 19 months. "
08/01/2001 - "Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy."
04/01/1997 - "We describe a father and daughter with a rigid spine syndrome and proximal myopathy. "
09/01/1991 - "Rigid spine syndrome (RSS) is clinically characterized by progressive limitation of flexion of the spine and contractures of other joints. "
09/01/1988 - "Finally, contractures and their relationship with myosclerosis, notably rigid spine syndrome, are discussed. "
12/01/2011 - "Additionally, FHL1 mutations have been discovered in rigid spine syndrome and in a single family with contractures, rigid spine, and cardiomyopathy. "
01/01/2010 - "We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. "
05/01/2004 - "It may occur in dystonia (retrocollis) or, occasionally, as a consequence of musculotendinous contractures secondary to certain neuromuscular disorders such as the rigid spine syndrome."
|5.||Emery-Dreifuss Muscular Dystrophy (X-Linked Emery-Dreifuss Muscular Dystrophy)
10/01/1998 - "Rigid spine syndrome (RSS) shows clinical similarities to Emery-Dreifuss muscular dystrophy (EDMD). "
10/01/1996 - "Clinical and histological findings are discussed in relation to the hitherto reported cases of autosomal dominant variant of the Emery-Dreifuss syndrome and the distinction from the rigid spine syndrome."
04/15/1994 - "One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery-Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders."
01/01/1986 - "These findings show that rigid spine syndrome can be distinguished from Emery-Dreifuss muscular dystrophy."
01/01/1986 - "We present five patients, three of whom suffered from a rigid spine syndrome and two from Emery-Dreifuss muscular dystrophy. "
|4.||Scleroatonic muscular dystrophy
|6.||type 2B Limb-girdle muscular dystrophy
|1.||Mechanical Ventilators (Ventilator)