Sobrido, María: search on Z-Library

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1

A note on rotigotine for restless legs syndrome after renal transplantation

Calviño, Jesus, Guijarro, Monica, Cigarran, Secundino, González-Tabares, Lourdes, Sobrido, Maria-Jesus

Journal:

Movement Disorders

Year:

2019

Language:

english

File:

PDF, 131 KB

english, 2019

2

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population

Oriel Carreño, Roser Corominas, Jessica Fernández-Morales, Montserrat Camiña, María-Jesús Sobrido, José Manuel Fernández-Fernández, Patricia Pozo-Rosich, Bru Cormand, Alfons Macaya

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 186 KB

english, 2012

3

Neurophysiological study in cerebrotendinous xanthomatosis

Belen Pilo, Gema de Blas, Maria Jesus Sobrido, Carmen Navarro, Francisco Grandas, Francisco J. Barrero, Miguel Angel Moya, Adriano Jimenez-Escrig

Journal:

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

4

Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

Ramos-Leví, Ana M., Díaz-pÉrez, Ángel, Sobrido, María-JesÚs, PiÑeiro-Hermida, Sergio, Blanco-Arias, Patricia, Cabezas-Agrícola, JosÉ M., Pascual-Pascual, Samuel I., AraÚjo-Vilar, David

Journal:

Year:

2012

Language:

english

File:

PDF, 641 KB

english, 2012

5

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

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, Carra

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 506 KB

english, 2015

6

Applied and translational neurogenomics

Sobrido, María-Jesús, Mohamed, Wael M.Y.

Journal:

Applied & Translational Genomics

Year:

2015

Language:

english

File:

PDF, 174 KB

english, 2015

7

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

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 Jesú

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 741 KB

english, 2018

8

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

Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 680 KB

2019

9

Assessing microsatellite instability with semiautomated fluorescent technology: Application to the analysis of primary brain tumors

Maria J. Sobrido, Francisco Barros, Manola Lema, Carlos Rodriguez-Pereira, Jerónimo Forteza, Angel Carracedo

Journal:

ELECTROPHORESIS

Year:

2000

Language:

english

File:

PDF, 103 KB

english, 2000

10

Rare HRAS1 alleles are a risk factor for the development of brain tumors

Ana Vega, María J. Sobrido, Clara Ruiz-Ponte, Francisco Barros, Angel Carracedo

Journal:

Year:

2001

Language:

english

File:

PDF, 102 KB

english, 2001

11

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

Roser Corominas, Marta Ribases, Montserrat Camiña, Ester Cuenca-León, Julio Pardo, Susana Boronat, María-Jesús Sobrido, Bru Cormand, Alfons Macaya

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 559 KB

english, 2009

12

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

Vega, Ana, Salas, Antonio, Gamborino, Elena, Sobrido, María Jesús, Macaulay, Vincent, Carracedo, Ángel

Journal:

Year:

2003

Language:

english

File:

PDF, 128 KB

english, 2003

13

Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Conceição Bettencourt, Beatriz Quintáns, Raquel Ros, Israel Ampuero, Zuleima Yáñez, Samuel Ignacio Pascual, Justo García de Yébenes, María-Jesús Sobrido

Journal:

Year:

2012

Language:

english

File:

PDF, 1.05 MB

english, 2012

14

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

Wang, Cheng, Li, Yulei, Shi, Lei, Ren, Jie, Patti, Monica, Wang, Tao, de Oliveira, João R M, Sobrido, María-Jesús, Quintáns, Beatriz, Baquero, Miguel

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

15

Databases for neurogenetics: Introduction, overview, and challenges

María-Jesús Sobrido, Pilar Cacheiro, Ángel Carracedo, Lars Bertram

Journal:

Year:

2012

Language:

english

File:

PDF, 131 KB

english, 2012

16

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

Manuel Arias, Julio Pardo, Patricia Blanco-Arias, María-Jesús Sobrido, Susana Arias, Dolores Dapena, Ángel Carracedo, Lev G. Goldfarb, Carmen Navarro

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 247 KB

english, 2006

17

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

María Taboada, Diego Martínez, Belén Pilo, Adriano Jiménez-Escrig, Peter N Robinson, María J Sobrido

Journal:

BMC Medical Informatics and Decision Making

Year:

2012

Language:

english

File:

PDF, 569 KB

english, 2012

18

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

Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing,

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 1.18 MB

english, 2013

19

Role of tau in non-familial dementia

Wilhelmsen, Kirk C., Geschwind, Daniel, Clark, Lorraine N., Sobrido, Maria J., Heyn, Sietske N., Kloeckener, Barbara, Feiger, Jennie, Miller, Bruce L.

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 196 KB

english, 2000

20

Eficacia y seguridad de la biopsia selectiva del ganglio centinela en enfermas con cáncer de mama

Acea-Nebril, Benigno, Berta, Candia-Bouso, Sobrido, María

Journal:

Cirugía Española

Year:

2002

File:

PDF, 50 KB

2002

21

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

Fachal, Laura, Mosquera-Miguel, Ana, Pastor, Pau, Ortega-Cubero, Sara, Lorenzo, Elena, Oterino-Durán, Agustín, Toriello, María, Quintáns, Beatriz, Camiña-Tato, Montse, Sesar, Angel, Vega, Ana, Sobrido

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2015

Language:

english

File:

PDF, 506 KB

english, 2015

22

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

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

Journal:

Molecular Genetics & Genomic Medicine

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

23

New Clues to the Relationship Between Endoplasmic Reticulum, Lipid Metabolism and Axonopathies

Sobrido, María-Jesús

Journal:

Year:

2014

Language:

english

File:

PDF, 85 KB

english, 2014

24

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

Varela, Miguel A, Curtis, Helen J, Douglas, Andrew GL, Hammond, Suzan M, O'Loughlin, Aisling J, Sobrido, Maria J, Scholefield, Janine, Wood, Matthew JA

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 686 KB

english, 2015

25

Novel Tau Polymorphisms, Tau Haplotypes, and Splicing in Familial and Sporadic Frontotemporal Dementia

Sobrido, Maria-Jesús, Miller, Bruce L., Havlioglu, Necat, Zhukareva, Victoria, Jiang, Zhihong, Nasreddine, Ziad S., Lee, Virginia M.-Y., Chow, Tiffany W., Wilhelmsen, Kirk C., Cummings, Jeffrey L., Wu

Journal:

Archives of Neurology

Year:

2003

Language:

english

File:

PDF, 129 KB

english, 2003

26

Cholesterol and Cognition: A Question of Balance?

Sobrido, María-Jesús

Journal:

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

27

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

Castro-Fernández, Cristina, Arias, Manuel, Blanco-Arias, Patricia, Santomé-Collazo, Luis, Amigo, Jorge, Carracedo, Ángel, Sobrido, Maria-Jesús

Journal:

Applied & Translational Genomics

Year:

2015

Language:

english

File:

PDF, 530 KB

english, 2015

28

Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation

Torres-Español, María, Anvar, Seyed Yahya, Sobrido, María-Jesús

Journal:

Year:

2016

Language:

english

File:

PDF, 121 KB

english, 2016

29

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

Aguiar, Pablo, Pardo, Julio, Arias, Manuel, Quintáns, Beatriz, Fernández-Prieto, Montse, Martínez-Regueiro, Rocío, Pumar, José-Manuel, Silva-Rodríguez, Jesús, Ruibal, Álvaro, Sobrido, María-Jesús, Cor

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

30

Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?

Sobrido, María-Jesús

Journal:

Year:

2017

Language:

english

File:

PDF, 68 KB

english, 2017

31

Implementar evidencias e investigar en implementación: dos realidades diferentes y prioritarias

Rumbo Prieto, José María, Martínez Ques, Ángel Alfredo, Sobrido Prieto, María, Raña Lama, Camilo Daniel, Vázquez Campo, Miriam, Braña Marcos, Beatriz

Journal:

Enfermería Clínica

Year:

2016

File:

PDF, 320 KB

2016

32

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

García-Sobrino, Tania, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, San Millán, Beatriz, Arias, Manuel, Sobrido, María-Jesús, Pardo, Julio

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 775 KB

english, 2017

33

Prevalence of spinocerebellar ataxia 36 in a US population

Valera, Juliana M., Diaz, Tatyana, Petty, Lauren E., Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J., Gibbs, Richard, Lupski,

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 298 KB

english, 2017

34

Restless Legs Syndrome: An Unresolved Uremic Disorder after Renal Transplantation

Calviño, Jesús, Cigarrán, Secundino, Gonzalez-Tabares, Lourdes, Guijarro, Monica, Millán, Beatriz, Cobelo, Carmen, Cillero, Sonia, Sobrido, María-Jesús

Journal:

Year:

2018

Language:

english

File:

PDF, 111 KB

english, 2018

35

Brain calcifications and PCDH12 variants

Nicolas, Gaël, 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, Je

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 322 KB

english, 2017

36

Freestanding Non-Precious Metal Electrocatalysts for Oxygen Evolution and Reduction Reactions

Titirici, Maria-Magdalena, Wang, Hao-Fan, Chen, Ruixuan, Feng, Jingyu F, Qiao, Mo, Doszczeczko, Szymon, Zhang, Qiang, Jorge Sobrido, Ana Belem

Journal:

ChemElectroChem

Year:

2018

Language:

english

File:

PDF, 1.81 MB

english, 2018

37

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

Maarouf, Haitham, Taboada, María, Rodriguez, Hadriana, Arias, Manuel, Sesar, Ángel, Sobrido, María Jesús

Journal:

BMC Medical Informatics and Decision Making

Year:

2017

Language:

english

File:

PDF, 3.79 MB

english, 2017

38

High performance N-doped carbon electrodes obtained via hydrothermal carbonization of macroalgae for supercapacitor applications

Titirici, Maria-Magdalena, Ren, Meng, Jia, Ziyang, Tian, Zhongwei, Cai, Jinjun, Jorge Sobrido, Ana Belen, López, Diana

Journal:

ChemElectroChem

Year:

2018

Language:

english

File:

PDF, 2.22 MB

english, 2018

39

Cloning of the GABAB Receptor Subunits B1 and B2 and their Expression in the Central Nervous System of the Adult Sea Lamprey

Romaus-Sanjurjo, Daniel, Fernández-López, Blanca, Sobrido-Cameán, Daniel, Barreiro-Iglesias, Antón, Rodicio, María Celina

Journal:

Frontiers in Neuroanatomy

Year:

2016

Language:

english

File:

PDF, 5.84 MB

english, 2016

40

Restless Legs Syndrome in Non-Dialysis Renal Patients: Is It Really That Common?

Calviño, Jesús, Cigarrán, Secundino, Lopez, Luis M., Martinez, Agustin, Sobrido, Maria-Jesús

Journal:

Journal of Clinical Sleep Medicine

Year:

2015

Language:

english

File:

PDF, 279 KB

english, 2015

41

The systematic review: Plurality of approaches and methodologies

Sobrido Prieto, María, Rumbo-Prieto, José María

Journal:

Enfermería Clínica (English Edition)

Year:

2018

Language:

english

File:

PDF, 521 KB

english, 2018

42

La revisión sistemática: pluralidad de enfoques y metodologías

Sobrido Prieto, María, Rumbo-Prieto, José María

Journal:

Enfermería Clínica

Year:

2018

File:

PDF, 524 KB

2018

43

Taurine promotes axonal regeneration after a complete spinal cord injury in lampreys

Sobrido-Cameán, Daniel, Fernández-López, Blanca, Pereiro, Natividad, Lafuente, Anunciación, Rodicio, María Celina, Barreiro-Iglesias, Antón

Journal:

Journal of Neurotrauma

Year:

2019

Language:

english

File:

PDF, 427 KB

english, 2019

44

Galanin in an Agnathan: Precursor Identification and Localisation of Expression in the Brain of the Sea Lamprey Petromyzon marinus

Sobrido-Cameán, Daniel, Yáñez-Guerra, Luis Alfonso, Lamanna, Francesco, Conde-Fernández, Candela, Kaessmann, Henrik, Elphick, Maurice R., Anadón, Ramón, Rodicio, María Celina, Barreiro-Iglesias, Antón

Journal:

Frontiers in Neuroanatomy

Year:

2019

Language:

english

File:

PDF, 3.45 MB

english, 2019

45

Electrospinning as a route to advanced carbon fibre materials for selected low-temperature electrochemical devices: a review

Wen, Yue, Kok, Matt D.R., Tafoya, Jorge Pavel Victoria, Sobrido, Ana B. Jorge, Bell, Ellsworth, Gostick, Jeff T., Herou, Servann, Schlee, Philipp, Titirici, Maria-Magdalena, Brett, Dan J.L., Shearing,

Journal:

Journal of Energy Chemistry

Year:

2020

File:

PDF, 1.80 MB

2020

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