PARALLEL SESSION 2A: Congenital Myasthenia, Neuromuscular and Neurogenetics
Tracks
TRIANTI HALL
| Wednesday, September 18, 2019 |
| 4:30 PM - 6:15 PM |
| TRIANTI HALL |
Speaker
Prof. Ulrike Schara
University of Essen, Children's Hospital
Congenital Myasthenia
4:30 PM - 4:55 PM
Dr. Douglas Feltner
AveXis, Inc.
OC021 | Gene-replacement therapy in Spinal Muscular Atrophy Type 1 (SMA1): long-term follow-up from the Onasemnogene Abeparvovec Phase 1/2a clinical trial
Prof. Basil T. Darras
Department of Neurology, Harvard Medical School, Boston Children's Hospital
OC022 | Longer-term assessment of Nusinersen treatment in children with later-onset spinal muscular atrophy who enrolled in CS2/CS12: an interim analysis of the SHINE Study
Dr. Pilar Tirado Requero
Hospital La Paz
OC023 | High diagnostic yield of syndromic intellectual disability by Next-Generation Sequencing techniques-NGS: whole exome sequencing and targeted NGS
Dr. Sergio Aguilera Albesa
Hosp De Navarra B,hosp. Virgen Del Camino
OC024 | ß-III Spectrin gene variants in non-progressive congenital Ataxias: widening the associated phenotype
Dr. Lydia Green
Department Of Paediatric Neurology, Leeds Teaching Hospitals Trust
OC025 | SUPV3L1 mutation: a novel gene causing human disease
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Discussion
6:10 PM - 6:15 PMChair
Sotiria Mastrogianni
Thomas Sejersen
Karolinska Institutet
