Dr Yoshiteru Azuma
| MYRF is associated with encephalopathy with reversible myelin vacuolization | 2018 |
|
Dr Yoshiteru Azuma
Professor Hanns Lochmuller
Emeritus Professor Clarke Slater
| Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions | 2017 |
|
Dr Yoshiteru Azuma
Dr Ana Topf
Dr Teresinha Evangelista
Dr Paulo Lorenzoni
Dr Andreas Roos
et al. | Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes | 2017 |
|
Dr Ana Topf
Professor Jordi Diaz Manera
Dr Nuria Muelas Gomez
Dr Teresinha Evangelista
Dr Yoshiteru Azuma
et al. | Molecular characterization of congenital myasthenic syndromes in Spain | 2017 |
|
Dr Yoshiteru Azuma
Dr Grace McMacken
Dr Ana Topf
Professor Hanns Lochmuller
| Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea | 2016 |
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