Associated Papers
A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Zhang J et al.
Orphanet Journal of Rare Diseases, 2025
40442802 (PubMed )
Supplement: 13023_2025_3823_MOESM1_ESM.docx
Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series.
Camelo-Filho AE et al.
Frontiers in Neurology, 2025
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
Mensch A et al.
Journal of Neuromuscular Diseases, 2022
Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.
An R et al.
Frontiers in Neurology, 2022
36188410 (PubMed )
Supplement: Data_Sheet_1.PDF
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.
Helman G et al.
Neurology, 2019
Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development.
Smith EN et al.
Blood Cancer Journal, 2015
25860294 (PubMed )
Supplement: bcj201514x3.xlsx › Table_S2
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