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Abstract Details

Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder
Muscle Disease/Neuromuscular Junction
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001
Authors/Disclosures
Edoardo Malfatti, MD (APHP, Inserm U955, Université Paris Est) Dr. Malfatti has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Spark therapeutics. Dr. Malfatti has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. The institution of Dr. Malfatti has received research support from AFM. The institution of Dr. Malfatti has received research support from Spark Therapeutics.
Victoria Gonzalez Martinez, MD No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
Carsten G. Bonnemann, MD Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with RYR1 Foundation that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Genethon that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Sarepta Therapeutics that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Kate Therapeutics that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with CureCMD that is relevant to AAN interests or activities. Dr. Bonnemann has a non-compensated relationship as a Scientific Advisor with Seal Therapeutics that is relevant to AAN interests or activities.
Kate Bushby, MD Dr. Bushby has nothing to disclose.
Claudia Castiglioni, MD (Dept. of Pediatric Neurology. Clinica Las Condes) Dr. Castiglioni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. Dr. Castiglioni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for PTC.
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
Marianne De Visser, MD, PhD (Academic Med Center) Dr. De Visser has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. De Visser has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. De Visser has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for AstraZeneca.
No disclosure on file
Bruno Eymard, MD No disclosure on file
No disclosure on file
Nathalie M. Goemans, MD (University Hospitals Leuven) Dr. Goemans has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Goemans has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. Dr. Goemans has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. Dr. Goemans has received publishing royalties from a publication relating to health care.
No disclosure on file
No disclosure on file
No disclosure on file
Beate Schlotter-Weigel (Friedrich-Baur-Institut LMU Munich) No disclosure on file
No disclosure on file
Hanns Lochmuller, MD, FAAN (Childrens Hospital of Eastern Ontario) Dr. Lochmuller has nothing to disclose.
No disclosure on file
No disclosure on file
Jean-Jacques Martin, MD (Universiteit Antwerpen (formerly)) No disclosure on file
No disclosure on file
No disclosure on file
Luciano Merlini, Prof, FAAN No disclosure on file
Enrico S. Bertini, MD (Bambino Gesu Hospital) Dr. Bertini has received personal compensation for serving as an employee of Bambino Gesu' Children's Resesarch Hospital.
No disclosure on file
No disclosure on file
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Haluk Topaloglu, MD No disclosure on file
No disclosure on file
No disclosure on file
Mustafa A. Salih, MD, FAAN No disclosure on file
J A. Urtizberea, MD No disclosure on file
No disclosure on file
No disclosure on file
Michel Fardeau, MD No disclosure on file
Francesco Muntoni, MD (UCL Institute of Child Health) Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.
No disclosure on file
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No disclosure on file