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Shen, Xin

https://orcid.org/0000-0003-4429-8358

A5052886370 | I1330342723

Mayo Clinic

Citations 6

A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (S45.004)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.s45.004

Investigation of Congenital Myasthenic Syndrome (CMS) Reveals Asymmetric Contribution of Invariant Cys-Loop Aspartate Residues Critical for AChR Channel Opening (S45.002)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.s45.002

Investigation of 11 Patients with GFPT1-Myasthenia Reveals Clinical, Structural, and Electrophysiologic Heterogeneity (S45.001)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.s45.001

A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (IN1-1.001)

Neurology | December 7, 2023 | Volume: 80 | Issue: 7_supplement | Pages: No page available

10.1212/wnl.80.7_supplement.in1-1.001

Mutant SNAP25B Causes Novel Congenital Myasthenic Syndrome (CMS), Cortical Hyperexcitability, Ataxia, and Intellectual Disability (S34.003)

Neurology | December 6, 2023 | Volume: 84 | Issue: 14_supplement | Pages: No page available

10.1212/wnl.84.14_supplement.s34.003

Novel congenital myasthenic syndrome caused by homozygous mutation in 3′-UTR of low-density lipoprotein receptor-related protein 6 (LRP6) gene (P7-13.010)

Neurology | December 6, 2023 | Volume: 98 | Issue: 18_supplement | Pages: No page available

10.1212/wnl.98.18_supplement.1796