Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Eduardo F Tizzano"'
Autor:
Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano‐Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)
Abstract We sought to devise a rational, systematic approach for defining/grouping survival motor neuron‐targeted disease‐modifying treatment (DMT) scenarios. The proposed classification is primarily based on a two‐part differentiation: initial
Externí odkaz:
https://doaj.org/article/ef602e623038483db8127100cc3b1503
Autor:
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100825- (2023)
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is
Externí odkaz:
https://doaj.org/article/f8742aa22bde4db0a7bae2b364dd1ee9
Autor:
Maite Calucho, Silvia Gartner, Paula Barranco, Paula Fernández-Álvarez, Raquel García Pérez, Eduardo F. Tizzano
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The availability of a simple, robust and non-invasive in vitro airway model would be useful to study the functionality of the cystic fibrosis transmembrane regulator (CFTR) protein and to personalize modulator therapy for cystic fibrosis (CF
Externí odkaz:
https://doaj.org/article/ceebc254ff6749ddae89f16c9505710e
Autor:
Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 932-944 (2019)
Abstract Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were measured using the ProteinSimple® platform in plasma samples from infants with S
Externí odkaz:
https://doaj.org/article/3ee8e34dbd374d5497e7d0c04fdbd40a
Autor:
María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Externí odkaz:
https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8
Autor:
Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8289 (2022)
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to influence
Externí odkaz:
https://doaj.org/article/710b935333e94d279a284a123d4aec27
Autor:
Eduardo F, Tizzano, Vanessa, Christie-Brown, Giovanni, Baranello, Olga, Germanenko, Allyson, Gray, Marija, Krstic, Charlotte, Lilien, Hinal, Patel, Laurent, Servais, Mariacristina, Scoto
Publikováno v:
Journal of Neuromuscular Diseases. 9:809-820
Several successful clinical trials have been conducted in spinal muscular atrophy (SMA) over recent years which have led to the approval of splicing modifiers and gene transfer therapies. With an increasing number of other agents progressing through
Autor:
Eduardo F. Tizzano
Publikováno v:
Revista Médica Clínica Las Condes, Vol 29, Iss 5, Pp 512-520 (2018)
Resumen: Se han producido recientemente importantes avances terapéuticos en la atrofia muscular espinal (AME) por alteración del gen SMN1, conocida también como AME 5q por la localización cromosómica de dicho gen. Descrita en el siglo XIX e iden
Externí odkaz:
https://doaj.org/article/5391fa3bf8404ecbbe57eb128df41c62
Autor:
Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measu
Externí odkaz:
https://doaj.org/article/5fd90d6790484b2b99c860828ddbffb2
Autor:
Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A. De Pablo-Moreno, Luis J. Serrano, M. Dolores Camero, Eduardo F. Tizzano, Ruben Berrueco, Antonio Liras
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 18, p 9705 (2021)
Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originate
Externí odkaz:
https://doaj.org/article/449daf1392784d4c9addd052b0cf5e7b