Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment von Engel, Andrew G, Dr, Shen, Xin-Ming, PhD, Selcen, Duygu, MD, Sine, Steven M, PhD

Volltext

Microvascular alterations and the role of complement in dermatomyositis von Lahoria, Rajat, Selcen, Duygu, Engel, Andrew G

Volltext

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review von Ohno, Kinji, Ohkawara, Bisei, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G

Volltext

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability von Shen, Xin-Ming, Selcen, Duygu, Brengman, Joan, Engel, Andrew G

Volltext

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia von Liewluck, Teerin, Selcen, Duygu, Engel, Andrew G.

Volltext

Mutations in ZASP define a novel form of muscular dystrophy in humans von Selcen, Duygu, Engel, Andrew G.

Volltext

Myofibrillar myopathies von Selcen, Duygu

Volltext

Mutation in BAG3 causes severe dominant childhood muscular dystrophy von Selcen, Duygu, Muntoni, Francesco, Burton, Barbara K., Pegoraro, Elena, Sewry, Caroline, Bite, Anna V., Engel, Andrew G.

Volltext

Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia von Di, Li, Chen, Hai, Lu, Yan, Selcen, Duygu, Engel, Andrew G., Da, Yuwei, Shen, Xin-Ming

Volltext

Mutations in myotilin cause myofibrillar myopathy von SELCEN, Duygu, ENGEL, Andrew G

Volltext

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia von Selcen, Duygu, Ohkawara, Bisei, Shen, Xin-Ming, McEvoy, Kathleen, Ohno, Kinji, Engel, Andrew G

Volltext

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands von De Bleecker, Jan L, De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, Dimachkie, Mazen, Gherardi, Romain, Goebel, Hans Hilmar, Hilton-Jones, David, Holton, Janice, Lundberg, Ingrid E, Mammen, Andrew, Mastaglia, Frank, Nishino, Ichizo, Rushing, Elisabeth, Daa Schroder, Henrik, Selcen, Duygu, Stenzel, Werner

Volltext

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome von Shibata, Akihide, Okuno, Tatsuya, Rahman, Mohammad Alinoor, Azuma, Yoshiteru, Takeda, Jun-Ichi, Masuda, Akio, Selcen, Duygu, Engel, Andrew G, Ohno, Kinji

Volltext

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts von Cook, Sara L, Stout, Christian, Kirkeby, Lindsey, Vidal-Folch, Noemi, Oglesbee, Devin, Hasadsri, Linda, Selcen, Duygu, Milone, Margherita, Anderson, Daniel, Staff, Nathan P

Volltext

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients von Selcen, Duygu, Milone, Margherita, Shen, Xin-Ming, Harper, C. Michel, Stans, Anthony A., Wieben, Eric D., Engel, Andrew G.

Volltext

246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands von Olivé, Montse, Winter, Lilli, Fürst, Dieter O., Schröder, Rolf, Behin, Anthony, Breukel, Alexandra, Brumhard, Matthias, Bryson-Richardson, Robert, Claeys, Kristl, Ferreiro, Ana, Fürst, Dieter, Goebel, Hans H., Gupta, Vandana, Kley, Rudolf, Mankodi, Ami, Noguchi, Satoru, Oldfors, Anders, Olivé, Montse, Schröder, Rolf, Selcen, Duygu, Timmerman, Vincent, Udd, Bjarne, Walter, Maggie, Weihl, Conrad, Wiche, Gerhard, Winter, Lilly

Volltext

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia von Engel, Andrew G, Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C Michel

Volltext

BAG3 mutations: another cause of giant axonal neuropathy von Jaffer, Fatima, Murphy, Sinéad M., Scoto, Mariacristina, Healy, Estelle, Rossor, Alexander M., Brandner, Sebastian, Phadke, Rahul, Selcen, Duygu, Jungbluth, Heinz, Muntoni, Francesco, Reilly, Mary M.

Volltext

Are MuSK antibodies the primary cause of myasthenic symptoms? von SELCEN, Duygu, FUKUDA, Taku, SHEN, Xin-Ming, ENGEL, Andrew G

Volltext

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia von Shen, Xin‐Ming, Nakata, Tomohiko, Mizuno, Seiji, Imoto, Issei, Selcen, Duygu, Ohno, Kinji, Engel, Andrew G.

Volltext