Hasil Pencarian - Alfons Macaya

Perbaiki Hasil
  1. 1
    Chiari malformation type I: a case-control association study of 58 developmental genes.

    Chiari malformation type I: a case-control association study of 58 developmental genes. oleh Aintzane Urbizu, Claudio Toma, Maria A Poca, Juan Sahuquillo, Ester Cuenca-León, Bru Cormand, Alfons Macaya

    Diterbitkan 2013-01-01
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  2. 2
    Cortical thickness and behavior abnormalities in children born preterm.

    Cortical thickness and behavior abnormalities in children born preterm. oleh Leire Zubiaurre-Elorza, Sara Soria-Pastor, Carme Junque, Roser Sala-Llonch, Dolors Segarra, Nuria Bargallo, Alfons Macaya

    Diterbitkan 2012-01-01
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  3. 3
    Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results

    Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results oleh María Luz Ruiz-Falcó Rojas, Martha Feucht, Alfons Macaya, Bernd Wilken, Andreas Hahn, Ricardo Maamari, Yulia Hirschberg, Antonia Ridolfi, John Chris Kingswood

    Diterbitkan 2022-04-01
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  4. 4
    A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.

    A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. oleh Maria Isabel Bahamonde, Selma Angèlica Serra, Oliver Drechsel, Rubayte Rahman, Anna Marcé-Grau, Marta Prieto, Stephan Ossowski, Alfons Macaya, José M Fernández-Fernández

    Diterbitkan 2015-01-01
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  5. 5
    Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage

    Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage oleh Lexuri Fernández de Gamarra-Oca, Leire Zubiaurre-Elorza, Carme Junqué, Elisabeth Solana, Sara Soria-Pastor, Élida Vázquez, Ignacio Delgado, Alfons Macaya, Natalia Ojeda, Maria A. Poca

    Diterbitkan 2021-01-01
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  6. 6
    Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

    Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia oleh Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini, Alfons Macaya, Bru Cormand

    Diterbitkan 2017-05-01
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  7. 7
    Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsy

    Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsy oleh Olga Laporta-Hoyos, Simona Fiori, Kerstin Pannek, Júlia Ballester-Plané, David Leiva, Lee B. Reid, Alex M. Pagnozzi, Élida Vázquez, Ignacio Delgado, Alfons Macaya, Roser Pueyo, Roslyn N. Boyd

    Diterbitkan 2018-01-01
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  8. 8
    White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function

    White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function oleh Olga Laporta-Hoyos, Kerstin Pannek, Júlia Ballester-Plané, Lee B. Reid, Élida Vázquez, Ignacio Delgado, Leire Zubiaurre-Elorza, Alfons Macaya, Pilar Póo, Mar Meléndez-Plumed, Carme Junqué, Roslyn Boyd, Roser Pueyo

    Diterbitkan 2017-01-01
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  9. 9
    Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.

    Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. oleh Aintzane Urbizu, Melanie E Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres I Soler, Maria A Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch

    Diterbitkan 2021-01-01
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  10. 10
    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) oleh Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium

    Diterbitkan 2017-09-01
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  11. 11
    Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

    Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect oleh Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez, Ángel Sánchez‐Montáñez, Alfons Macaya, María J. Sobrido, Marta Martinez‐Vicente, Belén Pérez‐Dueñas, Carmen Espinós

    Diterbitkan 2020-08-01
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  12. 12
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy oleh Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano

    Diterbitkan 2018-02-01
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  13. 13
    Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

    Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome oleh Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne

    Diterbitkan 2021-03-01
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  14. 14
    Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

    Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) oleh Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, J. Chris Kingswood, the TOSCA investigators

    Diterbitkan 2021-07-01
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  15. 15
    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome oleh Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne

    Diterbitkan 2020-08-01
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  16. 16
    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study oleh Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, J. Chris Kingswood, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators

    Diterbitkan 2018-09-01
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  17. 17
    Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

    Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas oleh J. Chris Kingswood, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, Matthias Sauter

    Diterbitkan 2020-09-01
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  18. 18
    Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

    Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study oleh Anna C. Jansen, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood

    Diterbitkan 2019-08-01
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  19. 19
    Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

    Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project oleh Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D’Amato, Guillaume Beure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, J. Chris Kingswood, Anna C. Jansen, on behalf of TOSCA Consortium and TOSCA Investigators

    Diterbitkan 2020-09-01
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  20. 20
    Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

    Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry oleh Ruben Marques, Ruben Marques, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen

    Diterbitkan 2019-10-01
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