María Jesús Sobrido - Publications, H-index & Citations

María Jesús Sobrido

prince felipe research center

12H指数

58论文数

823被引数

收录论文 18

发表时间

Hypometabolism and atrophy patterns associated with Niemann-Pick type C

EJNMMI RESEARCH

IF3

2025-02-26

OAAI

Silva-Rodriguez, Jesus; Castro, Cristina; Cortes, Julia; Arias, Manuel; Pubul, Virginia; Moscoso, Alexis; Grothe, Michel J.; Reynes-Llompart, Gabriel; Rodriguez-Bel, Laura; Gascon-Bayarri, Jordi; Sobrido, Maria Jesus; Aguiar, Pablo

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

FRONTIERS IN MOLECULAR NEUROSCIENCE

IF3.8

2023-03-17

OAAI

Quelle-Regaldie, Ana; Gandoy-Fieiras, Nerea; Rodriguez-Villamayor, Paula; Maceiras, Sandra; Losada, Ana Paula; Folgueira, Monica; Cabezas-Sainz, Pablo; Barreiro-Iglesias, Anton; Villar-Lopez, Maria; Quiroga-Berdeal, Maria Isabel; Sanchez, Laura; Sobrido, Maria Jesus

Zebrafish Models of Autosomal Recessive Ataxias

CELLS

IF5.2

2021-04-08

OAAI

Quelle-Regaldie, Ana; Sobrido-Camean, Daniel; Barreiro-Iglesias, Anton; Sobrido, Maria Jesus; Sanchez, Laura

Zebrafish Models of Autosomal Dominant Ataxias 常染色体显性共济失调的斑马鱼模型

CELLS

IF5.2

2021-02-17

OAAI

Quelle-Regaldie, Ana; Sobrido-Camean, Daniel; Barreiro-Iglesias, Anton; Sobrido, Maria Jesus; Sanchez, Laura

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-08-06

OAAI

Correa-Vela, Marta; Lupo, Vincenzo; Montpeyo, Marta; Sancho, Paula; Marce-Grau, Anna; Hernandez-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernandez-Rodriguez, Sandra; Tello, Cristina; Ramirez-Jimenez, Laura; Perez, Belen; Sanchez-Montanez, Angel; Macaya, Alfons; Sobrido, Maria J.; Martinez-Vicente, Marta; Perez-Duenas, Belen; Espinos, Carmen

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

JOURNAL OF MEDICAL GENETICS

IF3.7

2018-11-10

OAAI

Lupo, Vincenzo; Frasquet, Marina; Sanchez-Monteagudo, Ana; Lara Pelayo-Negro, Ana; Garcia-Sobrino, Tania; Jose Sedano, Maria; Pardo, Julio; Misiego, Mercedes; Garcia-Garcia, Jorge; Jesus Sobrido, Maria; Dolores Martinez-Rubio, Maria; Jose Chumillas, Maria; Jesus Vilchez, Juan; Francisco Vazquez-Costa, Juan; Espinos, Carmen; Sevilla, Teresa

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

BMC MEDICAL INFORMATICS AND DECISION MAKING

IF3.8

2017-12-06

OAAI

Maarouf, Haitham; Taboada, Maria; Rodriguez, Hadriana; Arias, Manuel; Sesar, Angel; Jesus Sobrido, Maria

Brain calcifications and PCDH12 variants

NEUROLOGY-GENETICS

IF3.7

2017-08-01

OAAI

Nicolas, Gael; Sanchez-Contreras, Monica; Ramos, Eliana Marisa; Lemos, Roberta R.; Ferreira, Joana; Moura, Denis; Sobrido, Maria J.; Richard, Anne-Claire; Lopez, Alma Rosa; Legati, Andrea; Deleuze, Jean-Francois; Boland, Anne; Quenez, Olivier; Krystkowiak, Pierre; Favrole, Pascal; Geschwind, Daniel H.; Aran, Adi; Segel, Reeval; Levy-Lahad, Ephrat; Dickson, Dennis W.; Coppola, Giovanni; Rademakers, Rosa; de Oliveira, Joao R. M.

Prevalence of spinocerebellar ataxia 36 in a US population

NEUROLOGY-GENETICS

IF3.7

2017-08-01

OAAI

Valera, Juliana M.; Diaz, Tatyana; Petty, Lauren E.; Quintans, Beatriz; Yanez, Zuleima; Boerwinkle, Eric; Muzny, Donna; Akhmedov, Dmitry; Berdeaux, Rebecca; Sobrido, Maria J.; Gibbs, Richard; Lupski, James R.; Geschwind, Daniel H.; Perlman, Susan; Below, Jennifer E.; Fogel, Brent L.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-07-01

112

OAAI

Seixas, Ana I.; Loureiro, Joana R.; Costa, Cristina; Ordonez-Ugalde, Andres; Marcelino, Hugo; Oliveira, Claudia L.; Loureiro, Jose L.; Dhingra, Ashutosh; Brandao, Eva; Cruz, Vitor T.; Timoteo, Angela; Quintans, Beatriz; Rouleau, Guy A.; Rizzu, Patrizia; Carracedo, Angel; Bessa, Jose; Heutink, Peter; Sequeiros, Jorge; Sobrido, Maria J.; Coutinho, Paula; Silveira, Isabel

Automated semantic annotation of rare disease cases: a case study (vol 2014, bau045, 2014)

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION

IF3.6

2015-11-13

OAAI

Taboada, Maria; Rodriguez, Hadriana; Martinez, Diego; Pardo, Maria; Jesus Sobrido, Maria

Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-05-20

OAAI

Varela, Miguel A.; Curtis, Helen J.; Douglas, Andrew G. L.; Hammond, Suzan M.; O'Loughlin, Aisling J.; Sobrido, Maria J.; Scholefield, Janine; Wood, Matthew J. A.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

NATURE GENETICS

IF31.8

2013-08-04

270

PREAI

Keller, Annika; Westenberger, Ana; Sobrido, Maria J.; Garcia-Murias, Maria; Domingo, Aloysius; Sears, Renee L.; Lemos, Roberta R.; Ordonez-Ugalde, Andres; Nicolas, Gael; Gomes da Cunha, Jose E.; Rushing, Elisabeth J.; Hugelshofer, Michael; Wurnig, Moritz C.; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobricic, Valerija; Carracedo, Angel; Petrovic, Igor; Miyasaki, Janis M.; Abakumova, Irina; Mae, Maarja Andaloussi; Raschperger, Elisabeth; Zatz, Mayana; Zschiedrich, Katja; Klepper, Jorg; Spiteri, Elizabeth; Prieto, Jose M.; Navas, Inmaculada; Preuss, Michael; Dering, Carmen; Jankovic, Milena; Paucar, Martin; Svenningsson, Per; Saliminejad, Kioomars; Khorshid, Hamid R. K.; Novakovic, Ivana; Aguzzi, Adriano; Boss, Andreas; Le Ber, Isabelle; Defer, Gilles; Hannequin, Didier; Kostic, Vladimir S.; Campion, Dominique; Geschwind, Daniel H.; Coppola, Giovanni; Betsholtz, Christer; Klein, Christine; Oliveira, Joao R. M.

Summarizing Phenotype Evolution Patterns from Report Cases

JOURNAL OF MEDICAL SYSTEMS

IF5.7

2012-10-20

PREAI

Taboada, Maria; Alvarez, Veronica; Martinez, Diego; Pilo, Belen; Robinson, Peter N.; Sobrido, Maria J.

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis

BMC MEDICAL INFORMATICS AND DECISION MAKING

IF3.8

2012-07-31

OAAI

Taboada, Maria; Martinez, Diego; Pilo, Belen; Jimenez-Escrig, Adriano; Robinson, Peter N.; Sobrido, Maria J.

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

BRAIN

IF11.7

2012-04-03

OAAI

Garcia-Murias, Maria; Quintans, Beatriz; Arias, Manuel; Seixas, Ana I.; Cacheiro, Pilar; Tarrio, Rosa; Pardo, Julio; Millan, Maria J.; Arias-Rivas, Susana; Blanco-Arias, Patricia; Dapena, Dolores; Moreira, Ramon; Rodriguez-Trelles, Francisco; Sequeiros, Jorge; Carracedo, Angel; Silveira, Isabel; Sobrido, Maria J.

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

ONCOGENE

IF7.3

2003-12-01

PREAI

Vega, A; Salas, A; Gamborino, E; Sobrido, MJ; Macaulay, V; Carracedo, A

Molecular genetics and inherited ataxias: Redefining phenotypes and pathogenesis

NEUROSCIENTIST

IF3.9

2000-12-01

PREAI

Sobrido, MJ; Geschwind, DH

研究方向