158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th–10th February 2008 Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference28 articles.
1. Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan;Godfrey;Brain,2007
2. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation;Yanagisawa;Neurology,2007
3. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene;Balci;Neuromuscul Disord,2005
4. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study;Messina;Neuromuscul Disord,2008
5. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome;Villanova;Neuromuscul Disord,2000
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1. Neonatal hypotonia and neuromuscular conditions;Handbook of Clinical Neurology;2019
2. RNA-based therapies for genodermatoses;Experimental Dermatology;2016-12-28
3. Diagnostic workup for neuromuscular diseases;Handbook of Clinical Neurology;2013
4. Malformations of Cortical Development;Swaiman's Pediatric Neurology;2012
5. Muscular dystrophies due to glycosylation defects;Current Opinion in Neurology;2011-10
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