Results 81 to 90 of about 3,537,976 (165)
Recent advances in understanding congenital myopathies [PDF]
, 2018 By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. Traditionally, congenital myopathy subtypes have been predominantly distinguished on the basis of the pathological hallmarks present on skeletal ...
Ravenscroft, Gianina +3 more
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A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]
, 2011 the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
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Treatment for congenital toxoplasmosis: finding out what works [PDF]
, 2009 Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R, Ruth Gilbert, Gilbert, Ruth
core +1 more source
, 2014 Gene score is the sum of GO, HPO, MPO and IA scores. Relative contributions of GO, HPO, MPO and IA scores to the gene score are shown in the columns %GO, %HPO, %MPO and %IA, respectively.
Olivier Pourquié (271227) +5 more
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Congenital myopathies: A clinicopathological study of 25 cases
, 2008 Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Bhatia Rohit +6 more
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Gene therapy in monogenic congenital myopathies
, 2016 International audienceCurrent treatment options for patients with monogenetic congenital myopathies (MCM) ameliorate the symptoms of the disorder without resolving the underlying cause.
Goddard, Melissa +4 more
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, 2017 This article clarifies the current role of MR imaging in the assessment of myopathies. Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, muscular dystrophies, and congenital ...
Gustav Andreisek +7 more
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Molecular and Clinico-pathological Investigation of Congenital Myopathies
Congenital myopathies are inherited disorders causing muscle weakness from birth. Some types lead to early death of the affected child, while others are compatible with life to adulthood.
core
The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]
J Clin MedSadeh M, Dabby R.
europepmc +1 more source