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Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network [PDF]
, 2016 Akemi Tamaura +8 more
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Design rules and Web 2.0: mismatched models of how people use the Internet for healthcare [PDF]
, 2009 Potts, H.
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Congenital muscular dystrophies
Current Opinion in Neurology, 1995Considerable advances in the understanding of congenital muscular dystrophy made during the past year may allow a new clinical classification of this disease. In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it ...
K, Arahata, H, Ishii, Y K, Hayashi
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The Journal of Pediatrics, 1989
We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
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We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made.
Q H, Leyten +5 more
openaire +2 more sources
Congenital muscular dystrophies
Seminars in Pediatric Neurology, 2002The number of new syndromes, loci, and genes responsible for CMD forms has dramatically increased in the last few years, and it has become increasingly evident that the classification of the different forms of CMD is a difficult task. A recent classification separated the forms of CMD that have been mapped (CMD diseases) from the ones with clearly ...
Eugenio, Mercuri +3 more
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Congenital muscular dystrophy with syringomyelia
Pediatric Neurology, 1994We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance ...
Parano E +3 more
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Congenital Muscular Dystrophies and Congenital Myopathies
Continuum, 2013The purpose of this review is to provide information regarding the diagnosis and natural history of some very rare disorders: congenital muscular dystrophies and congenital myopathies. Patients with these conditions share characteristics such as early onset of weakness and severe hypotonia. Other organs such as the brain, eyes, and skin may be involved.
Susan T, Iannaccone, Diana, Castro
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