Condition: Pena-Shokeir syndrome type I


rs1560224831 in DOK7 gene and Pena-Shokeir syndrome type I PMID 25237101 2014 Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

PMID 18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

PMID 16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.

PMID 18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

PMID 20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

PMID 23219351 2013 Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

PMID 17452375 2007 Clinical features of the DOK7 neuromuscular junction synaptopathy.

PMID 23790237 2013 Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

PMID 2261499 1990 Rheological aspects of red blood cell aggregation.

PMID 21850686 2011 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

PMID 20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

PMID 19837590 2009 Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

rs768892432 in DOK7;LOC105374355 gene and Pena-Shokeir syndrome type I PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

rs770987150 in LOC105374355;DOK7 gene and Pena-Shokeir syndrome type I PMID 20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

rs104894299 in RAPSN gene and Pena-Shokeir syndrome type I PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

PMID 11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

PMID 14504330 2003 Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

PMID 12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

PMID 25194721 2014 Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 17594401 2007 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

PMID 15282317 2004 Regulation of the rapsyn promoter by kaiso and delta-catenin.

PMID 22326364 2012 A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

PMID 15145336 2004 Distinct phenotypes of congenital acetylcholine receptor deficiency.

PMID 12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.