Associated Papers
The spectrum of neuromuscular diseases with tubular aggregates.
Rashed HR et al.
Neuromuscular Disorders : Nmd, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Papazoglu GM et al.
Glycoconjugate Journal, 2021
New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Ravenscroft G et al.
Seminars in Cell & Developmental Biology, 2017
COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.
Al-Muhaizea MA et al.
Translational Neuroscience, 2017
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 2015
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG et al.
The Lancet. Neurology, 2015
Inherited disorders of the neuromuscular junction: an update.
Rodríguez Cruz PM et al.
Journal of Neurology, 2014
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM et al.
Current Opinion in Neurology, 2014
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
Monies DM et al.
Neuromuscular Disorders : Nmd, 2014
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J et al.
Brain : a Journal of Neurology, 2013
Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.
Houlden H
Brain : a Journal of Neurology, 2013
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