Citations 62

Myopathy With Crescent of Nuclei: A Novel Histopathologic Finding in Desminopathy

Journal of Clinical Neuromuscular Disease | May 21, 2024 | Volume: 25 | Issue: 4 | Pages: 197-198

10.1097/cnd.0000000000000493 | PMID 38771229

Undiagnosed Congenital Myasthenic Syndromes in Adult Neuromuscular Practice: a Long Road to Diagnosis and Treatment. (P2.033)

Neurology | December 7, 2023 | Volume: 90 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.90.15_supplement.p2.033

Lipid Storage Myopathy Unmasked By The Antianginal Drug Ranolazine (P3.292)

Neurology | December 7, 2023 | Volume: 82 | Issue: 10_supplement | Pages: No page available

10.1212/wnl.82.10_supplement.p3.292

Determinants of the Repetitive-CMAP Occurrence and Therapy Efficacy in Slow-Channel Myasthenia (1253)

Neurology | December 7, 2023 | Volume: 96 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.96.15_supplement.1253

Distinctive pathological features of inherited and sporadic late-onset nemaline myopathies (2368)

Neurology | December 7, 2023 | Volume: 94 | Issue: 15_supplement | Pages: No page available

10.1212/wnl.94.15_supplement.2368

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 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

Mutations in MEGF10 in a patient presenting with late onset myopathy and respiratory distress. (P2.041)

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

10.1212/wnl.84.14_supplement.p2.041