Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
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Article Information
- Received June 23, 2020
- Accepted in final form September 29, 2020
- First Published November 11, 2020.
Author Disclosures
- Ivon Cuscó, PhD*,
- Sara Bernal, PhD*,
- Laura Blasco-Pérez, MSc,
- Maite Calucho, MSc,
- Laura Alias, PhD,
- Pablo Fuentes-Prior, PhD and
- Eduardo F. Tizzano, MD, PhD
- Ivon Cuscó, PhD*,
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- Sara Bernal, PhD*,
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- Laura Blasco-Pérez, MSc,
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- Maite Calucho, MSc,
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- Laura Alias, PhD,
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- Pablo Fuentes-Prior, PhD and
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Spanish Ministry of Science and Innovation (MICINN), RETOS RTI2018-101500-B-I00, Principal Investigator, 2018- 2021
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(1) "Daniel Bravo Andreu" Foundation
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- Eduardo F. Tizzano, MD, PhD
Grant support to conduct clinical trials on SMA from Ionis/Biogen Serves as a consultant to AveXis, Biogen, Biologix, Cytokinetics, Roche Serves as a scientific/medical advisor for non profit organizations such as FAME Chile, Famiglie SMA Italy, Familias SMA Argentina, FUNDAME, SMA Europe, and TREAT-NMD
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Partial support from Biogen to support L.B.P.
Partial support from Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias and cofunded with ERDF funds (Grant No. FIS PI18/000687) to E.F.T. and L.A.
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Partial support Grants from ÂFundación Daniel Bravo Andreu (to E.F.T. and P.F.-P. and supporting M.C.) Partial support Grant from SMA Europe (to E.F.T and P.F.-P.)
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- From the Medicine Genetics Group (I.C., L.B.-P., M.C., E.F.T.), Vall dHebron Research Institute (VHIR), Barcelona; Department of Clinical and Molecular Genetics (I.C., L.B.-P., M.C., E.F.T.), Hospital Vall dHebron, Barcelona; Department of Genetics (S.B., L.A.), Hospital de la Santa Creu i Sant Pau, Barcelona; Biomedical Research Institute Sant Pau (IIB Sant Pau) (S.B., L.A.), Hospital de la Santa Creu i Sant Pau, Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII, U-705 Barcelona) (S.B., L.A.), Madrid; Molecular Bases of Disease (P.F.-P.), Biomedical Research Institute Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
- Correspondence
Dr. Tizzano etizzano{at}vhebron.net
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