Search the collection

29 results for Sobrido,+María-Jesús

Sort by:

Sort by

Limit results to:

20 per page

29 results for Sobrido,+María-Jesús

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Author / Creator:Wang, Cheng ; Li, Yulei ; Shi, Lei ; Ren, Jie ; Patti, Monica ; Wang, Tao ; de Oliveira, João R M ; Sobrido, María-Jesús ; Quintáns, Beatriz ; Baquero, Miguel ; Cui, Xiaoniu ; Zhang, Xiang-Yang ; Wang, Lianqing ; Xu, Haibo ; Wang, Junhan ; Yao, Jing ; Dai, Xiaohua ; Liu, Juan ; Zhang, Lu ; Ma, Hongying ; Gao, Yong ; Ma, Xixiang ; Feng, Shenglei ; Liu, Mugen ; Wang, Qing K ; Forster, Ian C ; Zhang, Xue ; Liu, Jing-Yu
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-03, Vol.44 (3), p.254-256
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
Author / Creator:Navas-Sánchez, Francisco J. ; Marcos-Vidal, Luis ; de Blas, Daniel Martín ; Fernández-Pena, Alberto ; Alemán-Gómez, Yasser ; Guzmán-de-Villoria, Juan A. ; Romero, Julia ; Catalina, Irene ; Lillo, Laura ; Muñoz-Blanco, José L. ; Ordoñez-Ugalde, Andrés ; Quintáns, Beatriz ; Sobrido, María-Jesús ; Carmona, Susanna ; Grandas, Francisco ; Desco, Manuel
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-06, Vol.269 (6), p.3189-3203
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
Author / Creator:Sobrido, María-Jesús ; Bauer, Peter ; de Koning, Tom ; Klopstock, Thomas ; Nadjar, Yann ; Patterson, Marc C ; Synofzik, Matthis ; Hendriksz, Chris J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.20-20, Article 20
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Author / Creator:Navas-Sánchez, Francisco J. ; Fernández-Pena, Alberto ; Martín de Blas, Daniel ; Alemán-Gómez, Yasser ; Marcos-Vidal, Luís ; Guzmán-de-Villoria, Juan A. ; Fernández-García, Pilar ; Romero, Julia ; Catalina, Irene ; Lillo, Laura ; Muñoz-Blanco, José L. ; Ordoñez-Ugalde, Andrés ; Quintáns, Beatriz ; Pardo, Julio ; Sobrido, María-Jesús ; Carmona, Susanna ; Grandas, Francisco ; Desco, Manuel
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-07, Vol.268 (7), p.2429-2440
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Author / Creator:Wan, Jijun ; Yourshaw, Michael ; Mamsa, Hafsa ; Rudnik-Schöneborn, Sabine ; Menezes, Manoj P ; Hong, Ji Eun ; Leong, Derek W ; Senderek, Jan ; Salman, Michael S ; Chitayat, David ; Seeman, Pavel ; von Moers, Arpad ; Graul-Neumann, Luitgard ; Kornberg, Andrew J ; Castro-Gago, Manuel ; Sobrido, María-Jesús ; Sanefuji, Masafumi ; Shieh, Perry B ; Salamon, Noriko ; Kim, Ronald C ; Vinters, Harry V ; Chen, Zugen ; Zerres, Klaus ; Ryan, Monique M ; Nelson, Stanley F ; Jen, Joanna C
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.704-708
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
Author / Creator:Quelle-Regaldie, Ana ; Folgueira, Mónica ; Yáñez, Julián ; Sobrido-Cameán, Daniel ; Alba-González, Anabel ; Barreiro-Iglesias, Antón ; Sobrido, María-Jesús ; Sánchez, Laura
Publisher:Basel: MDPI AG
Journal title:Biomedicines, 2022-07, Vol.10 (8), p.1814
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
Author / Creator:Bettencourt, Conceição ; de Yébenes, Justo García ; López-Sendón, José Luis ; Shomroni, Orr ; Zhang, Xingqian ; Qian, Shu-Bing ; Bakker, Ingrid M. C. ; Heetveld, Sasja ; Ros, Raquel ; Quintáns, Beatriz ; Sobrido, María-Jesús ; Bevova, Marianna R. ; Jain, Shushant ; Bugiani, Marianna ; Heutink, Peter ; Rizzu, Patrizia
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2015-06, Vol.14 (3), p.378-381
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
Author / Creator:Carreño, Oriel ; Corominas, Roser ; Serra, Selma Angèlica ; Sintas, Cèlia ; Fernández‐Castillo, Noèlia ; Vila‐Pueyo, Marta ; Toma, Claudio ; Gené, Gemma G. ; Pons, Roser ; Llaneza, Miguel ; Sobrido, María‐Jesús ; Grinberg, Daniel ; Valverde, Miguel Ángel ; Fernández‐Fernández, José Manuel ; Macaya, Alfons ; Cormand, Bru
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2013-11, Vol.1 (4), p.206-222
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
GENETICS. The Human Variome Project
Author / Creator:Cotton, Richard G H ; Auerbach, Arleen D ; Axton, Myles ; Barash, Carol Isaacson ; Berkovic, Samuel F ; Brookes, Anthony J ; Burn, John ; Cutting, Garry ; den Dunnen, Johan T ; Flicek, Paul ; Freimer, Nelson ; Greenblatt, Marc S ; Howard, Heather J ; Katz, Michael ; Macrae, Finlay A ; Maglott, Donna ; Möslein, Gabriela ; Povey, Sue ; Ramesar, Rajkumar S ; Richards, Carolyn S ; Seminara, Daniela ; Smith, Timothy D ; Sobrido, María-Jesús ; Solbakk, Jan Helge ; Tanzi, Rudolph E ; Tavtigian, Sean V ; Taylor, Graham R ; Utsunomiya, Joji ; Watson, Michael
Publisher:United States
Journal title:Science (American Association for the Advancement of Science), 2008-11, Vol.322 (5903), p.861-862
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Two-stage case-control association study of dopamine-related genes and migraine
Author / Creator:Corominas, Roser ; Ribases, Marta ; Camiña, Montserrat ; Cuenca-León, Ester ; Pardo, Julio ; Boronat, Susana ; Sobrido, María-Jesús ; Cormand, Bru ; Macaya, Alfons
Publisher:England: BioMed Central Ltd
Journal title:BMC genetics, 2009-09, Vol.10 (1), p.95-95, Article 95
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations
Author / Creator:Vega, Ana ; Salas, Antonio ; Gamborino, Elena ; Sobrido, María Jesús ; Macaulay, Vincent ; Carracedo, Ángel
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2004-02, Vol.23 (6), p.1314-1320
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Author / Creator:Schlüter, Agatha ; Vélez-Santamaría, Valentina ; Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Ruiz, Montserrat ; Fourcade, Stéphane ; Planas-Serra, Laura ; Launay, Nathalie ; Guilera, Cristina ; Martínez, Juan José ; Homedes-Pedret, Christian ; Albertí-Aguiló, M. Antonia ; Zulaika, Miren ; Martí, Itxaso ; Troncoso, Mónica ; Tomás-Vila, Miguel ; Bullich, Gemma ; García-Pérez, M. Asunción ; Sobrido-Gómez, María-Jesús ; López-Laso, Eduardo ; Fons, Carme ; Del Toro, Mireia ; Macaya, Alfons ; García-Cazorla, Àngels ; Ortiz-Martínez, Antonio José ; Ignacio-Ortez, Carlos ; Cáceres-Marzal, Cristina ; Martínez-Salcedo, Eduardo ; Mondragón, Elisabet ; Barredo, Estíbaliz ; Airaldi, Ileana Antón ; Martínez, Javier Ruiz ; Ramos, Joaquin A. Fernández ; Vázquez, Juan Francisco ; Díez-Porras, Laura ; Vázquez-Cancela, María ; O’Callaghan, Mar ; Sánchez, Tamara Pablo ; Nedkova, Velina ; Pérez, Ana Isabel Maraña ; Beltran, Sergi ; Gutiérrez-Solana, Luis G. ; Pérez-Jurado, Luis A. ; Aguilera-Albesa, Sergio ; de Munain, Adolfo López ; Casasnovas, Carlos ; Pujol, Aurora
Publisher:London: BioMed Central Ltd
Journal title:Genome medicine, 2023-09, Vol.15 (1), p.1-68, Article 68
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
The Human Variome Project
Author / Creator:Cotton, Richard G. H. ; Auerbach, Arleen D. ; Axton, Myles ; Barash, Carol Isaacson ; Berkovic, Samuel F. ; Brookes, Anthony J. ; Burn, John ; Cutting, Garry ; Dunnen, Johan T. den ; Flicek, Paul ; Freimer, Nelson ; Greenblatt, Marc S. ; Howard, Heather J. ; Katz, Michael ; Macrae, Finlay A. ; Maglott, Donna ; Möslein, Gabriela ; Povey, Sue ; Ramesar, Rajkumar S. ; Richards, Carolyn S. ; Seminara, Daniela ; Smith, Timothy D. ; Sobrido, María-Jesús ; Solbakk, Jan Helge ; Tanzi, Rudolph E. ; Tavtigian, Sean V. ; Taylor, Graham R. ; Utsunomiya, Joji ; Watson, Michael
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2008-11, Vol.322 (5903), p.861-862
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Author / Creator:Lupo, Vincenzo ; Frasquet, Marina ; Sánchez-Monteagudo, Ana ; Pelayo-Negro, Ana Lara ; García-Sobrino, Tania ; Sedano, María José ; Pardo, Julio ; Misiego, Mercedes ; García-García, Jorge ; Sobrido, María Jesús ; Martínez-Rubio, María Dolores ; Chumillas, María José ; Vílchez, Juan Jesús ; Vázquez-Costa, Juan Francisco ; Espinós, Carmen ; Sevilla, Teresa
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-12, Vol.55 (12), p.814-823
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Hypometabolism and atrophy patterns associated with Niemann-Pick type C
Author / Creator:Silva-Rodríguez, Jesús ; Castro, Cristina ; Cortés, Julia ; Arias, Manuel ; Pubul, Virginia ; Moscoso, Alexis ; Grothe, Michel J. ; Reynes-Llompart, Gabriel ; Rodríguez-Bel, Laura ; Gascon-Bayarri, Jordi ; Sobrido, María Jesús ; Aguiar, Pablo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:EJNMMI research, 2025-02, Vol.15 (1), p.16-12, Article 16
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)
Author / Creator:Maarouf, Haitham ; Taboada, María ; Rodriguez, Hadriana ; Arias, Manuel ; Sesar, Ángel ; Sobrido, María Jesús
Publisher:England: BioMed Central Ltd
Journal title:BMC medical informatics and decision making, 2017-12, Vol.17 (1), p.159-159, Article 159
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation
Author / Creator:Quelle-Regaldie, Ana ; Gandoy-Fieiras, Nerea ; Rodríguez-Villamayor, Paula ; Maceiras, Sandra ; Losada, Ana Paula ; Folgueira, Mónica ; Cabezas-Sáinz, Pablo ; Barreiro-Iglesias, Antón ; Villar-López, María ; Quiroga-Berdeal, María Isabel ; Sánchez, Laura ; Sobrido, María Jesús
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2023-03, Vol.16, p.1078634-1078634
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Author / Creator:Legati, Andrea ; Giovannini, Donatella ; Nicolas, Gaël ; López-Sánchez, Uriel ; Quintáns, Beatriz ; Oliveira, João R M ; Sears, Renee L ; Ramos, Eliana Marisa ; Spiteri, Elizabeth ; Sobrido, María-Jesús ; Carracedo, Ángel ; Castro-Fernández, Cristina ; Cubizolle, Stéphanie ; Fogel, Brent L ; Goizet, Cyril ; Jen, Joanna C ; Kirdlarp, Suppachok ; Lang, Anthony E ; Miedzybrodzka, Zosia ; Mitarnun, Witoon ; Paucar, Martin ; Paulson, Henry ; Pariente, Jérémie ; Richard, Anne-Claire ; Salins, Naomi S ; Simpson, Sheila A ; Striano, Pasquale ; Svenningsson, Per ; Tison, François ; Unni, Vivek K ; Vanakker, Olivier ; Wessels, Marja W ; Wetchaphanphesat, Suppachok ; Yang, Michele ; Boller, Francois ; Campion, Dominique ; Hannequin, Didier ; Sitbon, Marc ; Geschwind, Daniel H ; Battini, Jean-Luc ; Coppola, Giovanni
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-06, Vol.47 (6), p.579-581
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Zebrafish Models of Autosomal Recessive Ataxias
Author / Creator:Quelle-Regaldie, Ana ; Sobrido-Cameán, Daniel ; Barreiro-Iglesias, Antón ; Sobrido, María Jesús ; Sánchez, Laura
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2021-04, Vol.10 (4), p.836
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Zebrafish Models of Autosomal Dominant Ataxias
Author / Creator:Quelle-Regaldie, Ana ; Sobrido-Cameán, Daniel ; Barreiro-Iglesias, Antón ; Sobrido, María Jesús ; Sánchez, Laura
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2021-02, Vol.10 (2), p.421
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 29 results

Export record to excel

Export this record

Export record to excel

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Export this record

Export record to excel

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

Export this record

Export record to excel

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Export this record

Export record to excel

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

Export this record

Export record to excel

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Export this record

Export record to excel

A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

Export this record

Export record to excel

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Export this record

Export record to excel

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

Export this record

Export record to excel

GENETICS. The Human Variome Project

Export this record

Export record to excel

Two-stage case-control association study of dopamine-related genes and migraine

Export this record

Export record to excel

mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations

Export this record

Export record to excel

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

Export this record

Export record to excel

The Human Variome Project

Export this record

Export record to excel

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

Export this record

Export record to excel

Hypometabolism and atrophy patterns associated with Niemann-Pick type C

Export this record

Export record to excel

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

Export this record

Export record to excel

Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation

Export this record

Export record to excel

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Export this record

Export record to excel

Zebrafish Models of Autosomal Recessive Ataxias

Export this record

Export record to excel

Zebrafish Models of Autosomal Dominant Ataxias

Refine your search