Associated Papers
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1
When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
Mendpara V et al.
Cureus, 2023
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang S et al.
Human Molecular Genetics, 2023
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Natera-de Benito D et al.
Journal of Neurology, 2016
Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.
Evangelista T et al.
Journal of Neuromuscular Diseases, 2015
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Lorenzoni PJ et al.
Journal of the Neurological Sciences, 2013
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.
Lorenzoni PJ et al.
Muscle & Nerve, 2013
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Congenital myasthenic syndrome: a brief review.
Lorenzoni PJ et al.
Pediatric Neurology, 2012
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
Mihaylova V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS et al.
Brain : a Journal of Neurology, 2007
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