Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
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Article Information
- Received May 24, 2020
- Accepted in final form October 21, 2020
- First Published December 24, 2020.
Author Disclosures
- Rita Selvatici, PhD,
- Rachele Rossi, PhD,
- Fernanda Fortunato, MD,
- Cecilia Trabanelli, MSc,
- Yamina Sifi, PhD,
- Alice Margutti, MSc,
- Marcella Neri, MD, PhD,
- Francesca Gualandi, MD, PhD,
- Lena Szabò, MD,
- Balint Fekete, MD,
- Lyudmilla Angelova, MD,
- Ivan Litvinenko, MD,
- Ivan Ivanov, MD,
- Yurtsever Vildan, MD,
- Oana Alexandra Iuhas, MD,
- Mihaela Vintan, MD,
- Carmen Burloiu, MD,
- Butnariu Lacramioara, MD,
- Gabriela Visa, MD,
- Diana Epure, MD,
- Cristina Rusu, MD,
- Daniela Vasile, MD,
- Magdalena Sandu, MD,
- Dmitry Vlodavets, MD,
- Monica Mager, MD, PhD,
- Theodore Kyriakides, MD, PhD,
- Sanja Delin, MD,
- Ivan Lehman, MD,
- Jadranka Sekelj Fureš, MD,
- Veneta Bojinova, MD,
- Mariela Militaru, MD,
- Velina Guergueltcheva, MD,
- Birute Burnyte, MD,
- Maria Judith Molnar, MD, PhD,
- Niculina Butoianu, MD,
- Selma Dounia Bensemmane, MD,
- Samira Makri-Mokrane, MD,
- Agnes Herczegfalvi, MD,
- Monica Panzaru, MD,
- Adela Chirita Emandi, MD,
- Anna Lusakowska, MD,
- Anna Potulska-Chromik, MD,
- Anna Kostera-Pruszczyk, MD, PhD,
- Andriy Shatillo, MD,
- Djawed Bouchenak Khelladi, MD,
- Oussama Dendane, MD,
- Mingyan Fang, PhD,
- Zhiyuan Lu, PhD and
- Alessandra Ferlini, MD, PhD
- Rita Selvatici, PhD,
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- Rachele Rossi, PhD,
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- Fernanda Fortunato, MD,
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- Cecilia Trabanelli, MSc,
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- Yamina Sifi, PhD,
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- Alice Margutti, MSc,
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- Marcella Neri, MD, PhD,
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- Francesca Gualandi, MD, PhD,
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- Lena Szabò, MD,
(1)Biogen
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(1)Biogen (2)PTC
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- Balint Fekete, MD,
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- Lyudmilla Angelova, MD,
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- Ivan Litvinenko, MD,
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- Ivan Ivanov, MD,
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- Yurtsever Vildan, MD,
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- Oana Alexandra Iuhas, MD,
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- Mihaela Vintan, MD,
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- Carmen Burloiu, MD,
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- payment of registration fee, accommodation and travel for participation to the international congresses, suported by EWOPHARMA AG ROMANIA, for - the 2nd International Scientific Congress/SMA - Evry 2020; EPNS Congress 17-21.09.2019; EAP congress, 30.10-03.11.2018, Paris, France
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- Butnariu Lacramioara, MD,
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- Gabriela Visa, MD,
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1. PTC -advisory board, 2019 2. Ewopharma - consultant, 2020
- Diana Epure, MD,
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- Cristina Rusu, MD,
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I am member of the editorial board of European Journal of Medical Genetics
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- Daniela Vasile, MD,
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- Magdalena Sandu, MD,
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- Dmitry Vlodavets, MD,
(1) AveXis (2) Janssen (3) F. Hoffmann-La Roche
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(1) F. Hoffmann-La Roche (2) PTC Therapeutics (3) Janssen (4) Novartis
(1) L.O. BADALYAN NEUROLOGICAL JOURNAL, EDITORIAL COUNCIL, 1 year
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(1) F. Hoffmann-La Roche (2) PTC Therapeutics (3) Janssen (4) BIOCAD (5) Generium (6) Marlin Biotech LLC
(1) F. Hoffmann-La Roche (2) PTC Therapeutics (3) Janssen (4) Novartis
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- Monica Mager, MD, PhD,
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- Theodore Kyriakides, MD, PhD,
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- Sanja Delin, MD,
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- Ivan Lehman, MD,
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- Jadranka Sekelj Fureš, MD,
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- Veneta Bojinova, MD,
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- Mariela Militaru, MD,
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- Velina Guergueltcheva, MD,
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Dr. Guergueltcheva was a research fellow of the Alexander von Humboldt Foundation April 2008 - August 2009
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- Birute Burnyte, MD,
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- Maria Judith Molnar, MD, PhD,
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- Niculina Butoianu, MD,
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1. Funding for travel, accomodation and participation fee in Master Class SMA Treat NMD (for EwoPharma Romania) 2. Funding for travel, accomodation and participation fee in SMA Biogen Academy ( for EwoPharma Romania) 3. Funding for travel, accomodation and participation fee in Advisory Board for SMA (Avexis) 4. Funding for travel, accomodation and participation fee in DMD Masterclass (PTC) 5. Funding for travel, accomodation and participation fee in Speech Trainer (PTC)
1. European Journal Paediatric Neurology, author ÂEuropean ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy 2020 2. Maedica (Bucharest), author, ÂAcute Myocardial Injury in a Child with Duchenne Muscular Dystrophy: Pulse Steroid Therapy? 2017 3. American Journal of Human Genetics, author ÂImpaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea 2016 4. Journal Neuromuscular Disorders, author, ÂNon-Ambulant Duchenne Patients Theoretically Treatable by Exon 53, 2015 Skipping have Severe PhenotypeÂ
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- Selma Dounia Bensemmane, MD,
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- Samira Makri-Mokrane, MD,
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- Agnes Herczegfalvi, MD,
Sarepta, PTC,
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Biogen, PTC,
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- Monica Panzaru, MD,
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(1) Takeda Pharmaceutical Company, funding for travel to 2019 SSIEM ANNUAL SYMPOSIUM, Rotterdam
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- Adela Chirita Emandi, MD,
(1) Commercial or non-profit entity
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(1) Commercial or non-profit entity, type of payment
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(1) Brief description of invention/technology
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- Anna Lusakowska, MD,
Avexis
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(1) Biogen - travel support and speaker honoraria (2) Roche -travel support and speaker honoraria
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1.Biogen
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- Anna Potulska-Chromik, MD,
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- Anna Kostera-Pruszczyk, MD, PhD,
PTC, Roche
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Travel, speaker honoraria: PTC, Roche
Editorial Board: Polish Journal of Neurology and Neurosurgery (PJNNS)
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- Andriy Shatillo, MD,
F. Hoffmann-La Roche AG
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Asia Pacific Journal of Clinical Trials: Nervous System Diseases
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PTC Therapeutics
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- Djawed Bouchenak Khelladi, MD,
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- Oussama Dendane, MD,
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- Mingyan Fang, PhD,
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BGI-Shenzhen, project leader, for 10 years
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- Zhiyuan Lu, PhD and
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1) BGI Genomics,Senior Sales Director,5 years
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- Alessandra Ferlini, MD, PhD
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Neuromuscular Disorders, Editorial board, 2006 Journal of Neuromuscular Diseases, Editorial Board, 2013 World Journal of Gastroenterology, Editorial Board, 2009 Frontiers in Nanobiotechnology, Editorial Board, 2014
Nanoparticles for antisense oligonucleotides delivery (2009)
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Sarepta Therapeutics research grant : Omics diagnosis of inherited neuromuscular diseases (Ferlini A PI, no personal fees) Sarepta Therapeutics research grant: Use of CMPS for patients management (ERN Euro-NMD dedicated grant to Italian Health Care Providers) (Ferlini A PI, no personal fees) PTC Therapeutics service grant: DMD Diagnosis in non European countries (Ferlini A PI, no personal fees)
European Union research projects grants NMD-CHIP HEALTH-F5-2008-223026 (PARTNER UNIFE) BIO-NMD HEALTH-F7 2009-241665 (COORDINATOR) NEUROMICS HEALTH FP7 2012-2017 (PARTNER UNIFE) BIND H2020 2020-2024 (PARTNER UNIFE)
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- From the Medical Genetics Unit (R.S., R.R., F.F., C.T., A.M., M.N., F.G., A.F.), Department of Medical Sciences, University of Ferrara, Italy; Neurologie (Y.S.), CHU de Benbadis, Constantine, Algérie; 2nd Department of Paediatrics Clinic (L.S., A.H.), Semmelweis University; Institute of Genomic Medicine and Rare Disorders (B.F., M.J.M.), Semmelweis University, Budapest, Hungary; Department of Medical Genetics (L.A.), Medical University, Varna, Bulgaria; Department of Pediatrics (I. Litvinenko), Medical University Sofia; Department of Child Neurology (I. Litvinenko), University Pediatric Hospital “Prof. Ivan Mitev”, Sofia; Department Pediatrics (I.I.), St. George University Hospital, Medical University Plovdiv, Bulgaria; Pediatric Neurology Department (Y.V.), Pediatric Neurologist County Clinical Emergency Hospital of Constanta; G. Curteanu Municipal Clinical Hospital Oradea (O.A.I.); Department of Neuroscience (M.V., M. Militaru), Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca; Pediatric Neurology Department (C.B., N.B.), “Alexandru Obregia” Clinical Psychiatry Hospital, Bucharest; “Grigore T Popa” University of Medicine and Pharmacy (B.L., C.R., M.P.); “Sfanta Maria” Children's Hospital (B.L., C.R., M.P.); Pediatric Clinical Hospital Sibiu (G.V.); “Dr. Victor Gomoiu” Children's Hospital (D.E., D. Vasile, M.S.); “Carol Davila” University of Medicine and Pharmacy (M.S., N.B.), Bucharest, Romania; Russian Children Neuromuscular Center (D. Vlodavets), Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia; Department of Neuroscience Neurology and Pediatric Neurology “Iuliu Hatieganu” University of Medicine and Pharmacy (M. Mager), Faculty of Medicine; Pediatric Neurology Department (M. Mager), Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; Department of Basic and Clinical Sciences (T.K.), University of Nicosia, Cyprus; Department of Pediatrics (S.D.), General Hospital Zadar, Zadar, Croatia; Department of Paediatrics (I. Lehman, J.S.F.); University Hospital Centre Zagreb, ; Faculty of Medicine University of Osijek (J.S.F.), Croatia; University Hospital of Neurology and Psychiatry Sveti Naum (V.B.); Clinic of Neurology (V.G.), University Hospital Sofiamed; Sofia University “St. Kliment Ohridski” (V.G.)Bulgaria; Institute of Biomedical Sciences (B.B.), Faculty of Medicine, Vilnius University, Lithuania; Ali Ait Idir Hospital (S.D.B., S.M.-M.), Algiers, Algeria; University of Algiers I. Algeria (S.D.B., S.M.-M.); Center of Genomic Medicine (A.C.E.), University of Medicine and Pharmacy Victor Babes Timisoara; Regional Center of Medical Genetics Timis (A.C.E.), Clinical Emergency Hospital for Children Louis Turcanu Timisoara, Romania; Department of Neurology (A.L., A.P., A.K.-P.), Medical University of Warsaw, Poland; Institute of Neurology (A.S.), Psychiatry and Narkology National Academy of Medical Science of Ukraine; Neurologie (D.B.K., O.D.), CHU Tidjani Damerdji, Tlemcen, Algerie; and BGI-Shenzhen (M.F., Z.L.), Shenzhen, China.
- Correspondence
Dr. Ferlini fla{at}unife.it
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