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101 citation(s) found for "Engel, Andrew".

A Novel Genotype and Pathological Phenotype in a Patient with Myosin Heavy Chain 2A Myopathy (P5.440)
Madigan, Nicolas N. , Alsharabati, Mohammad, Sorenson, Eric J. , Engel, Andrew G. , Milone, Margherita , Liewluck, Teerin

Mayo Clinic

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

10.1212/wnl.90.15_supplement.p5.440 Get It

Muscle Biopsy and Electromyography Correlation (P3.442)
Milone, Margherita , Litchy, William J. , Mandrekar, Jayawant, Engel, Andrew, Naddaf, Elie , Mauermann, Michelle L.

Mayo Clinic

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

10.1212/wnl.90.15_supplement.p3.442 Get It

Undiagnosed Congenital Myasthenic Syndromes in Adult Neuromuscular Practice: a Long Road to Diagnosis and Treatment. (P2.033)
Kao, Justin, Milone, Margherita , Selcen, Duygu , Shen, Xin‐Ming , Engel, Andrew, Liewluck, Teerin

Mayo Clinic

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

10.1212/wnl.90.15_supplement.p2.033 Get It

Congenital Myasthenic Syndromes (CMS) Due to Impaired Principal Coupling Pathway in the ɛ Subunit of Muscle Acetylcholine Receptor (AChR) (P2.031)
Shen, Xin‐Ming , Brengman, Joan M., Shen, Shelley , Durmuş, Hacer , Deymeer, Feza , Sine, Steven M. , Engel, Andrew, Preethish‐Kumar, Veeramani , Yüceyar, Nur , Vengalil, Seena , Nalini, Atchayaram

Mayo Clinic

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

10.1212/wnl.90.15_supplement.p2.031 Get It

A Neonatal Case of Congenital Myasthenic Syndrome with COLQ Mutation (P2.339)
Imperioli, Matthew, Ionita, Cristian , Acsádi, Gyula , Engel, Andrew

Mayo Clinic

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

10.1212/wnl.82.10_supplement.p2.339 Get It

Determinants of the Repetitive-CMAP Occurrence and Therapy Efficacy in Slow-Channel Myasthenia (1253)
Di, Li , Chen, Hai , Selcen, Duygu , Engel, Andrew, Da, Yuwei , Shen, Xin‐Ming , Di, Li, Lü, Yan

Mayo Clinic

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

10.1212/wnl.96.15_supplement.1253 Get It

A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy (2727)
Elliott, Jeffrey L. , Engel, Andrew G. , Milone, Margherita , Nicolau, Stefan , Liewluck, Teerin

Mayo Clinic

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

10.1212/wnl.94.15_supplement.2727 Get It

Distinctive pathological features of inherited and sporadic late-onset nemaline myopathies (2368)
Selcen, Duygu , Engel, Andrew, Milone, Margherita , Nicolau, Stefan , Dasgupta, Aneesha , Doles, Jason D.

Mayo Clinic

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

10.1212/wnl.94.15_supplement.2368 Get It

A Spontaneously Resolving Pyridostigmine Responsive Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency (S45.004)
Selcen, Duygu , Shen, Xin , Meulemans, Sandra, Creemers, John W.M. , Engel, Andrew, Régal, Luc

Mayo Clinic

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

10.1212/wnl.80.7_supplement.s45.004 Get It

Investigation of Congenital Myasthenic Syndrome (CMS) Reveals Asymmetric Contribution of Invariant Cys-Loop Aspartate Residues Critical for AChR Channel Opening (S45.002)
Shen, Xin , Brengman, Joan M., Neubauer, David , Engel, Andrew G.

Mayo Clinic

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

10.1212/wnl.80.7_supplement.s45.002 Get It