POSTER SESSION 11: Neuromuscular
Tracks
POSTER AREA
| Friday, September 20, 2019 |
| 12:15 PM - 1:00 PM |
| POSTER AREA (Balcony Muses Foyer) |
Overview
P11-01 to P11-52
Speaker
Dr. Laurent Servais
Institut de Myologie
P11-01 | Long term analysis of the rate of respiratory function decline in patients with Duchenne Muscular Dystrophy (DMD) in a real-world setting: the SYROS Study
Dr. Laurent Servais
Institut de Myologie
P11-02 | Consistent long-term effect of Idebenone on the rate of respiratory function decline in advanced patients with Duchenne Muscular Dystrophy (DMD)
Dr. Ala Fadilah
Sheffield Children’s Hospital
P11-03 | Intraneural Perineuroma: an unusual cause of Left Sciatic Neuropathy in childhood
Ms. Alexandra Ille
Smz Süd With G.v.preyer'sches Children's Hospital
P11-04 | Cardiac Troponin T (cTnT) as a highly sensitive parameter for Spinal Muscular Atrophy (SMA) in a floppy infant
Prof. Bakhytkul Myrzaliyeva
Kazakh Medical University of Continuing Education
P11-05 | Clinical and genetic characteristic of Dystrophinopathy in children in Kazakhstan
Dr. Erik Niks
Leiden University Medical Center
P11-06 | Compensation strategies used to move a filled glass to the mouth in Duchenne Muscular Dystrophy
Prof. Eugenio Mercuri
Department Of Pediatric Neurology, Catholic University, Rome, Italy
P11-07 | Adeno-Associated Virus Serotype 9 (AAV9) antibodies in patients with Spinal Muscular Atrophy Screened for treatment with Onasemnogene Abeparvovec
Dr. Gemma Olive Cirera
Hospital General De Granollers
P11-08 | Recurrent Hypokalemic Periodic Paralysis due to CACNA1S mutation
Dr. George Papadimas
Aeginition Hospital, Dpt Of Neurology, Medical School Of Athens
P11-09 | Expanding the phenotype of Mitochondrial Thymidine Kinase 2 mutations
Dr. Gulten Ozturk Thomas
Marmara University
P11-10 | Evaluation of knowledge level of NUSİNERSEN treatment in SMA families followed by a tertiary Paediatric Neurology clinic
Dr. Jadranka Sekelj Fureš
Childrens Hospital Zagreb
P11-11 | VIPN (Vincristine Induced Peripheral Neuropathy) – Neurological complications of Oncology treatment
Dr. Jeesuk Yu
Dankook University Hospital
P11-12 | A paediatric case of anti-MuSK Antibody-Positive Ocular Myasthenia Gravis
Dr. Joana Martins
Centro Materno Infantil Do Norte
P11-13 | Clinical, genetic and neuropathological heterogeneity in a paediatric cohort with Nemaline Myopathy
Dr. Joana Ribeiro
Hospital Pediatrico De Coimbra
P11-14 | Nusinersen: A tertiary centre experience in Type 1 Spinal Muscular Atrophy
Dr. Kristy Iskandar
Universitas Gadjah Mada Academic Hospital
P11-15 | Genetic testing for Indonesian Duchenne and Becker Muscular Dystrophy patients: the era of personalized medicine
Dr. Kursat Bora Carman
Eskisehir Osmangazi University
P11-16 | A newly defined Fukutin gene mutation in a child with Fukuyama-Type Congenital Muscular Dystrophy
Mrs. Léna Szabó
Semmelweis University
P11-17 | One year of Nusinersen treatment in Spinal Muscular Atrophy (SMA) in Hungary
Dr. Marcus Droege
Avexis, Inc
P11-18 | The RESTORE Registry: a resource for measuring and improving Spinal Muscular Atrophy (SMA) outcomes
Dr. Marcus Droege
Avexis, Inc
P11-19 | Burden of illness of Spinal Muscular Atrophy Type 1 (SMA1)
Dr. Mary Chesshyre
P11-20 | Paediatric Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase antibody associated Immune Necrotising Myopathy (anti-HMGCR INM) may mimic Limb Girdle Muscular Dystrophy in presentation
Dr. Mihaela Roxana Ioghen
Dr Victor Gomoiu Children's Clinical Hospital
P11-21 | Phenotypic variability in two maternal cousins with Calpainopathy
Dr. Elif Naz Kadem
Antalya Research and Training Hospital
P11-22 | Limb-Girdle Muscular Dystrophy Type 2O as a clinical manifestation of POMGNT1 gene mutation
Dr. Philip Broser
Kinderspital St. Gallen
P11-23 | Electrophysiological diagnostic of neuromuscular diseases in new-borns, infants and toddlers
Dr. Pinelopi Dragoumi
Aristotle University Of Thessaloniki
P11-24 | Spinal rigidity, scoliosis and progressive respiratory impairment: clues to SEPN1 related Myopathy
Dr. Deborah Sival
University Medical Center Groningen, University Of Groningen
P11-25 | Muscle ultrasound comparison between early, intermediate and late onset Friedreich’s Ataxia
Dr. Tiago Santos
Hospital Santa Maria
P11-26 | Guillain-Barré Syndrome: analysis of Acute Inflammatory Neuropathies from a tertiary centre
Mrs. Rocío Calvo Medina
Malaga universitary Hospital
P11-27 | Reservoir with a thoracic spinal catheter used for intrathecal delivery of Nusinersen in a patient with Type 2 Spinal Muscular Atrophy
Mrs. Rocío Calvo Medina
Malaga universitary Hospital
P11-28 | Neuromuscular Diseases in paediatric palliative care: a clinical challenge
Mrs. Rocío Calvo Medina
Malaga universitary Hospital
P11-29 | Mortality and sedation at the end of the life in neurological patients in a paediatric palliative care unit
Prof. Basil T. Darras
Department of Neurology, Harvard Medical School, Boston Children's Hospital
P11-30 | Intrathecal administration of Onasemnogene Abeparvovec gene-replacement therapy for Spinal Muscular Atrophy Type 2 (STRONG)
Dr. Samyami Chowdhury
Oxford John Radcliffe Hospital
P11-31 | Dynein Heavy Chain Mutation: a case series
Mrs. Seyda Besen
Plaza Event Kongre Organizasyon
P11-32 | Charcot-Marie-Tooth Disease associated with elevated creatine kinase and proteinuria due to Inverted Formin 2 (INF2) gene mutation
Dr. Stephanie Schüssler
Department Of Neuropediatrics, Children´s Hospital, University Hospital Of Erlangen
P11-33 | Early-onset Distal Myopathy related to a novel homozygous mutation in the MYH7 gene in a 17-year-old girl
Mrs. Tanja Golli
Department Of Child, Adolescent and Developmenatl Neurology, Children's Hospital Ljubljana
P11-34 | Prevalence and genetic subtypes of Congenital Myasthenic Syndromes in Slovenian children
Dr. Teresa Moreno
Viagens El Corte Ingles
P11-35 | Follow-up of 13 Duchenne boys treated with Ataluren in Portugal
Dr. Yağmur Bayındır
Hacettepe University Children's Hospital
P11-36 | Congenital Myopathies: clinicopathological findings and genotype-phenotype correlations
Mrs. Rocío Calvo Medina
Malaga universitary Hospital
P11-37 | Intrathecal Nursinersen therapy in children with Spinal Muscular Atrophy. Our experience
Prof. Eugenio Mercuri
Department Of Pediatric Neurology, Catholic University, Rome, Italy
P11-38 | Timed-function test data in patients with Duchenne Muscular Dystrophy from the STRIDE Registry and the CINRG Natural History Study: a matched cohort analysis
Mr. Allan Depizol
Centro Universitário Estácio de Ribeirão Preto
P11-39 | Novel ANO5 homozygous mutation causing mild myalgia and unprovoked hyperckemia in an athlete teenager
Mrs. Mireia Vazquez
Hospital Sant Joan De Déu
P11-40 | Pontocerebellar Hypoplasia Type 1 (PCH Type 1): different phenotypes in patients with EXOSC3 mutations
Dr. Chrysanthi Tsimakidi
Hrg Greece Sa
P11-41 | The Identification of CHRNE 1267delG mutation in Greek Roma patients with Congenital Myasthenia
Mrs. Tina Sabadin
University Children's Hospital Of Ljubljana
P11-42 | The importance of the establishment a register for monitoring children with Neuromuscular Disorders
Ms. Hanna Küpper
Neuropaediatric Department, University Children's Hospital Tübingen
P11-43 | Enlargement of peripheral nerves in late-onset Krabbe’s Disease as demonstrated by nerve ultrasound
Ms. Hanna Küpper
Neuropaediatric Department, University Children's Hospital Tübingen
P11-44 | Extending the phenotype of the Hypotonia-Ataxia-Developmental Delay - Tooth Enamel Defect Syndrome (CTBP1 gene)
Mrs. Tanja Golli
Department Of Child, Adolescent and Developmenatl Neurology, Children's Hospital Ljubljana
P11-45 | One-year follow-up of Slovenian DMD patients treated with Ataluren
Ms. Tita Butenko
University Children's Hospital Ljubljana
P11-46 | From upper respiratory tract infection and myocarditis to the diagnosis of a child female carrier of Duchenne Muscular Dystrophy: a case report
Ms. Tita Butenko
University Children's Hospital Ljubljana
P11-47 | Evaluation of Slovenian children with Spinal Muscular Atrophy Type I-III six months after treatment with Nusinersen
Mrs. Nesibe Gevher Eroglu Ertugrul
Hacettepe University
P11-48 | Eculizumab as a long-term treatment in Congenital CD59 Deficiency: single-centre experience
Prof. Kevin Rostásy
Department of Pediatrics, Faculty of Medicine, University of Witten/Herdecke
P11-49 | Clinical course, outcome and autoantibody status in children with Chronic Demyelinating Polyneuropathy (CIDP)
Dr. Ivan Lehman
P11-50 | Genetic and nongenetic modifiers – Possible treatment targets in Spinal Muscular Atrophy
Prof. Vedrana Milic Rasic
Clinic For Neurology And Psychiatry For Children And Youth, Faculty Of Medicine, University Of Belgrade
P11-51 | Phenotypic variability in siblings with Spinal Muscular Atrophy
Prof. Faruk Incecik
Cukurova Universitesi Tip Fakultesi
P11-52 | Dynamic Thiol/Disulphide homeostasis in children with Duchenne Muscular Dystrophy
Chair
Sophia Bakhtadze
Tbilisi State Medical University
Guenther Bernert
Kaiser Franz Josef Hospital / Dept Paeditricss
