Neurociencias

Trastornos del movimiento

María del Pilar Gómez Garre
María del Pilar Gómez Garre
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla
Laboratorio: 104
Pablo Mir Rivera
Pablo Mir Rivera
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla

Laboratorio: 104

Pablo Mir Rivera

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  1. Miembros del grupo
  2. Áreas de trabajo
  3. Publicaciones
  4. Actualidad

Grupo: Trastornos del movimiento

Directorio
Miembros del grupo Trastornos del movimiento
  • , .
  • Adarmes Gómez, Astrid Daniela.Lda. en Medicina y Cirugía
  • Álvarez de Toledo Blandón, Mª Paloma.Lda. Psicología.
  • Bonilla Toribio, Marta.Lda. en Biología. Técnico.
  • Buiza Rueda, Dolores.Lda. en Biología
  • Carrasco Trigo, José Javier.Diplomado en Enfermería
  • Carrillo García, Fátima.Doctora en Medicina. FEA - Neurología (HUVR).
  • Castellano Guerrero, Ana María.Doctora en Psicología
  • Diaz Belloso, Rafael .Técnico
  • Fernández Rodríguez, Paula.MIR HUVR
  • Franco Rosado, Pablo.Ingeniero Industrial
  • García Ojeda, Sergio.Técnico en Administración y Sistemas Informáticos
  • Garrote Espina, Lorena.Técnico de Apoyo
  • Gómez Garre, María del Pilar.Investigadora del Programa Nicolás Monardes del Sistema Andaluz de Salud vinculada a la UGC de Neurología. Hospital Universitario Virgen del Rocío. Doctora en Biología
  • Gómez Rapela, Cristina.Lda. en Biología
  • Gómez-Feria Ferreiro, José.Becario FPU
  • Grothe, Michel.Investigador Postdoctoral Miguel Servet I. Doctor en Biología
  • Iglesias Camacho, Elena .Investigadora predoctoral FPU
  • Jesús Maestre, Silvia.Doctora en Medicina. FEA - Neurología (HUVR)
  • Jiménez Jaraba, María del Valle.Diplomada en Estadística
  • Jiménez Jiménez, María Jesús.Técnico en Documentación Sanitaria. Diplomada en Trabajo Social
  • Labrador Espinosa, Miguel Ángel.Ldo. en Biología
  • Macías García, Daniel.MIR HUVR
  • Madruga Garrido, Marcos.Ldo. en Medicina. FEA - Neurología (HUVR)
  • Martín Rodríguez , Juan Francisco .Doctor en Neurociencias
  • Mir Rivera, Pablo.Doctor en Medicina. FEA/Profesor Asociado (HUVR/Univ. de Sevilla).
  • Muñoz Delgado, Laura.Lda. en Medicina y Cirugía
  • Ojeda Lepe, Elena.Lda. en Medicina y Cirugía
  • Palomar Simón, Francisco.Doctor en Medicina. Post-MIR.
  • Periñán Tocino, Mª Teresa.Investigadora en Formación FPU
  • Pineda Sánchez, Rocío.Técnico de Laboratorio
  • Porcacchia, Paolo.Doctor en Medicina. FEA (HUVR).
  • Ribas Serna, Juan.Catedrático US. Doctor en Medicina
  • Silva Arbelo, Marina.Diplomada en Enfermería

Áreas de trabajo

Estudio de factores genéticos involucrados en la patogénesis de la enfermedad de Parkinson (EP) y otros trastornos del movimiento.
En los últimos años se han descrito numerosos genes relacionados con la fisiopatología de los trastornos del movimiento. Nuestro grupo está interesado en la caracterización de dichos genes, así como en el de otros posibles genes candidatos. Nuestro objetivo final es investigar las consecuencias funcionales de las alteraciones de dichos genes en nuestra población mediante el análisis de correlación fenotipo-genotipo y estudios de ligamiento genético.

Estimulación magnética transcraneal (EMT) en estudio de la fisiopatología de la EP y otros trastornos del movimiento.
En esta línea nuestro grupo pretende evaluar, mediante EMT, el papel de distintas áreas cerebrales en la fisiopatología de la EP y otros trastornos del movimiento, así como su modulación por fármacos, cirugía funcional y factores genéticos.

Estudios de los aspectos clínicos de la EP y otros trastornos del movimiento.
El objetivo de esta línea se centra en los aspectos más clínicos de los trastornos del movimiento, describiendo presentaciones inusuales de distintas enfermedades y características clínicas diferenciales de algunas entidades. Igualmente incluye el estudio la eficacia de diversas terapias, así como el valor diagnóstico de diferentes pruebas de neuroimagen en la EP y otros trastornos del movimiento.

Revistas Internacionales
Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, Mir P.
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Eur J Neurol
Periñán MT, Macías-García D, Labrador-Espinosa MÁ, Jesús S, Buiza-Rueda D, Adarmes-Gómez AD, Muñoz-Delgado L, Gómez-Garre P, Mir P.
Association of PICALM with Cognitive Impairment in Parkinson's Disease
2020
Periñán MT, Macías-García D, Buiza-Rueda D, Guijarro-Albaladejo B, Jesús S, Adarmes-Gómez AD, Escuela R, Vigo-Ortega R, Gómez-Garre P, Mir P
Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson's disease in southern Spain.
Neurobiol Aging
Martin-Rodriguez JF, Ruiz-Veguilla M, Alvarez de Toledo P, Aizpurua-Olaizola O, Zarandona I, Canal-Rivero M, Rodriguez-Baena A, Mir P
Impaired motor cortical plasticity associated with cannabis use disorder in young adults.
Addict Biol
Muñoz-Delgado L, Macías-García D, Jesús S, Adarmes-Gómez A, Palomar FJ, Carrillo F, Mir P
Orthostatic Myoclonus Secondary to Central Pontine Myelinolysis
Mov Disord Clin Pract
Martin-Rodriguez JF, Mir P
Short-afferent inhibition and cognitive impairment in Parkinson's disease: A quantitative review and challenges
Neurosci Lett
Jesús S, Periñán MT, Cortés C, Buiza-Rueda D, Macías-García D, Adarmes A, Muñoz-Delgado L, Labrador-Espinosa MÁ, Tejera-Parrado C, Gómez-Garre MP, Mir P
Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease
Eur J Neurol
Jesús S, Labrador-Espinosa MA, Adarmes AD, Méndel-Del Barrio C, Martínez-Castrillo JC, Alonso-Cánovas A, Sánchez Alonso P, Novo-Ponte S, Alonso-Losada MG, López Ariztegui N, Segundo Rodríguez JC, Morales MI, Gastón I, Lacruz Bescos F, Clavero Ibarra P, Kulisevsky J, Pagonabarraga J, Pascual-Sedano B, Martínez-Martín P, Santos-García D, Mir P; COPPADIS Study Group.
Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort
Sci Rep
Teipel, SJ; Temp, AGM; Levin, F; Dyrba, M; Grothe, MJ
Association of PET-based stages of amyloid deposition with neuropathological markers of A beta pathology
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Santos-Garcia, D; De Deus, FT; Cores, BC; Valdes, AL; Suarez, CE; Aneiros, A; Jesus, S; Aguilar, M; Pastor, P; Planellas, L; Cosgaya, M; Garcia, CJ; Caballol, N; Legarda, I; Hernandez, VJ; Cabo, I; Lopez, ML; Gonzalez, AI; Avila, RMA; Jose, CM; Nogueira, V; Puente, V; Garcia, MJM; Borrue, C; Solano, VB; Alvarez, SM; Vela, L; Escalante, S; Cubo, E; Carrillo, PF; Martinez, CJC; Sanchez, AP; Alonso, LMG; Lopez, AN; Gaston, I; Kulisevsky, J; Blazquez, EM; Seijo, M; Ruiz, MJ; Valero, C; Kurtis, M; de Fabregues-Boixar, O; Gonzalez, AJ; Prieto, JC; Lopez, DL; McAfee, D; Mir, P
Mood in Parkinson's disease: From early- to late-stage disease
INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY
Jelistratova, I; Teipel, SJ; Grothe, MJ
Longitudinal validity ofPET-based staging of regional amyloid deposition
HUMAN BRAIN MAPPING
Craig, CE; Jenkinson, NJ; Brittain, JS; Grothe, MJ; Rochester, L; Silverdale, M; Alho, ATDL; Alho, EJL; Holmes, PS; Ray, NJ
Pedunculopontine Nucleus Microstructure Predicts Postural and Gait Symptoms in Parkinson's Disease
MOVEMENT DISORDERS
Perinan, MT; Macias-Garcia, D; Labrador-Espinosa, MA; Jesus, S; Buiza-Rueda, D; Adarmes-Gomez, AD; Munoz-Delgado, L; Gomez-Garre, P; Mir, P
Association ofPICALMwith Cognitive Impairment in Parkinson's Disease
MOVEMENT DISORDERS
Santos-Garcia, D; de Deus-Fonticoba, T; Castro, ES; Diaz, AMA; Feal-Painceiras, MJ; Paz-Gonzalez, JM; Garcia-Sancho, C; Jesus, S; Mir, P; Planellas, L; Garcia-Caldentey, J; Caballol, N; Legarda, I; Hernandez-Vara, J; Hernandez-Aramburu, I; Avila-Rivera, MA; Catalan, MJ; Nogueira, V; Alvarez-Sauco, M; Vela, L; Escalante, S; Cubo, E; Sanchez-Alonso, P; Alonso-Losada, MG; Lopez-Ariztegui, N; Martinez-Martin, P
The impact of freezing of gait on functional dependency in Parkinson's disease with regard to motor phenotype
NEUROLOGICAL SCIENCES
Habes, M; Grothe, MJ; Tunc, B; McMillan, C; Wolk, DA; Davatzikos, C
Disentangling Heterogeneity in Alzheimer's Disease and Related Dementias Using Data-Driven Methods
BIOLOGICAL PSYCHIATRY
Santos-Garcia, D; Fonticoba, TD; Castro, ES; Diaz, AA; Bartolome, CC; Panceiras, MJF; Gonzalez, JMP; Aymerich, LV; Moreno, JMG; Estrada, MB; Jesus, S; Mir, P; Aguilar, M; Planellas, L; Caldentey, JG; Caballol, N; Legarda, I; Lopez, IC; Manzanares, LL; Rivera, MAA; Catalan, MJ; Diaz, LML; Borrue, C; Sauco, MA; Vela, L; Cubo, E; Castrillo, JCM; Alonso, PS; Losada, MGA; Ariztegui, NL; Gaston, I; Pascual-Sedano, B; Seijo, M; Martinez, JR; Valero, C; Kurtis, M; Ardura, JG; Jurczynska, CP; Martinez-Martin, P
Quality of life and non-motor symptoms in Parkinson's disease patients with subthreshold depression
JOURNAL OF THE NEUROLOGICAL SCIENCES
Pereira, JB; Hall, S; Jalakas, M; Grothe, MJ; Strandberg, O; Stomrud, E; Westman, E; van Westen, D; Hansson, O
Longitudinal degeneration of the basal forebrain predicts subsequent dementia in Parkinson's disease
NEUROBIOLOGY OF DISEASE
Martin-Rodriguez, JF; Mir, P
Short-afferent inhibition and cognitive impairment in Parkinson's disease: A quantitative review and challenges
NEUROSCIENCE LETTERS
Teipel, SJ; Dyrba, M; Chiesa, PA; Sakr, F; Jelistratova, I; Lista, S; Vergallo, A; Lemercier, P; Cavedo, E; Habert, MO; Dubois, B; Hampel, H; Grothe, MJ
In vivo staging of regional amyloid deposition predicts functional conversion in the preclinical and prodromal phases of Alzheimer ?s disease
NEUROBIOLOGY OF AGING
Perinan, MT; Macias-Garcia, D; Buiza-Rueda, D; Guijarro-Albaladejo, B; Jesus, S; Adarmes-Gomez, AD; Escuela, R; Vigo-Ortega, R; Gomez-Garre, P; Mir, P
Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson's disease in southern Spain
NEUROBIOLOGY OF AGING
Macias-Garcia, D; Serrano, JJ; Blazquez, MJP; Moniche, F
Acute lower limb paresis in a patient with rheumatoid arthritis: Emergency neuroimaging findings
NEUROLOGIA
Vanegas, MI; Marce-Grau, A; Marti-Sanchez, L; Mellid, S; Baide-Mairena, H; Correa-Vela, M; Cazurro, A; Rodriguez, C; Toledo, L; Fernandez-Ramos, JA; Pons, R; Aguilera-Albesa, S; Marti, MJ; Eiris, J; Iglesias, G; De Fabregues, O; Maqueda, E; Garriz-Luis, M; Madruga, M; Espinos, C; Macaya, A; Cabrera, JC; Perez-Duenas, B
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
PARKINSONISM & RELATED DISORDERS
Dominguez-Gonzalez, C; Badosa, C; Madruga-Garrido, M; Marti, I; Paradas, C; Ortez, C; Diaz-Manera, J; Berardo, A; Alonso-Perez, J; Trifunov, S; Cuadras, D; Kalko, SG; Blazquez-Bermejo, C; Camara, Y; Marti, R; Mavillard, F; Martin, MA; Montoya, J; Ruiz-Pesini, E; Villarroya, J; Montero, R; Villarroya, F; Artuch, R; Hirano, M; Nascimento, A; Jimenez-Mallebrera, C
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
SCIENTIFIC REPORTS
Martin-Rodriguez, JF; Ruiz-Veguilla, M; de Toledo, PA; Aizpurua-Olaizola, O; Zarandona, I; Canal-Rivero, M; Rodriguez-Baena, A; Mir, P
Impaired motor cortical plasticity associated with cannabis use disorder in young adults
ADDICTION BIOLOGY
Martin-Rodriguez, JF; Ramos-Herrero, VD; Parras, GG; Flores-Martinez, A; Madrazo-Atutxa, A; Cano, DA; Gruart, A; Delgado-Garcia, JM; Leal-Cerro, A; Leal-Campanario, R
Chronic adult-onset of growth hormone/IGF-I hypersecretion improves cognitive functions and LTP and promotes neuronal differentiation in adult rats
ACTA PHYSIOLOGICA
Santos-Garcia, D; Fonticoba, TD; Castro, ES; Diaz, AA; McAfee, D; Catalan, MJ; Alonso-Frech, F; Villanueva, C; Jesus, S; Mir, P; Aguilar, M; Pastor, P; Caldentey, JG; Peyret, EE; Planellas, LL; Marti, MJ; Caballol, N; Vara, JH; Andres, GM; Cabo, I; Rivera, MAA; Manzanares, LL; Redondo, N; Martinez-Martin, P
Non-motor symptom burden is strongly correlated to motor complications in patients with Parkinson's disease
EUROPEAN JOURNAL OF NEUROLOGY
Jesus, S; Perinan, MT; Cortes, C; Buiza-Rueda, D; Macias-Garcia, D; Adarmes, A; Munoz-Delgado, L; Labrador-Espinosa, MA; Tejera-Parrado, C; Gomez-Garre, MP; Mir, P
Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease
EUROPEAN JOURNAL OF NEUROLOGY
Gomez-Garre, P; Jesus, S; Perinan, MT; Adarmes, A; Alonso-Canovas, A; Blanco-Ollero, A; Buiza-Rueda, D; Carrillo, F; Catalan-Alonso, MJ; del Val, J; Escamilla-Sevilla, F; Espinosa-Rosso, R; Fernandez-Moreno, MC; Garcia-Moreno, JM; Garcia-Ruiz, PJ; Giacometti-Silveira, S; Gutierrez-Garcia, J; Lopez-Valdes, E; Macias-Garcia, D; Martinez-Castrillo, JC; Martinez-Torres, I; Medialdea-Natera, MP; Minguez-Castellanos, A; Moya, MA; Ochoa-Sepulveda, JJ; Ojea, T; Rodriguez, N; Sillero-Sanchez, M; Tejera-Parrado, C; Mir, P
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review
EUROPEAN JOURNAL OF NEUROLOGY
Rodriguez-Rosell, D; Yanez-Garcia, JM; Mora-Custodio, R; Pareja-Blanco, F; Ravelo-Garcia, AG; Ribas-Serna, J; Gonzalez-Badillo, JJ
Velocity-based resistance training: impact of velocity loss in the set on neuromuscular performance and hormonal response
APPLIED PHYSIOLOGY NUTRITION AND METABOLISM
Santos-Garcia, D; Castro, ES; Fonticoba, TD; Panceiras, MJF; Enriquez, JGM; Gonzalez, JMP; Bartolome, CC; Planellas, LL; Caldentey, JG; Caballol, N; Legarda, I; Lopez, IC; Manzanares, LL; Rivera, MAA; Catalan, MJ; Nogueira, V; Borrue, C; Sauco, MA; Vela, L; Cubo, E; Castrillo, JCM; Alonso, PS; Losada, MGA; Ariztegui, NL; Gaston, MI; Kulisevsky, J; Pagonabarraga, J; Seijo, M; Martinez, JR; Valero, C; Kurtis, M; Ardura, JG; Prieto, C; Mir, P; Martinez-Martin, P
Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson's Disease
JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY
Teipel, SJ; Fritz, HC; Grothe, MJ
Neuropathologic features associated with basal forebrain atrophy in Alzheimer disease
NEUROLOGY
Cristina, TP; Pablo, M; Teresa, PM; Lydia, VD; Irene, AR; Araceli, AC; Inmaculada, BB; Marta, BT; Dolores, BR; Jose, CAM; Rocio, GR; Jose, GRP; Ismael, HF; Silvia, J; Labrador, MAE; Lydia, LM; Carlos, MCJ; Posada, IJ; Ana, RS; Cristina, RH; Javier, D; Gomez-Garre, P
A genetic analysis of a Spanish population with early onset Parkinson's disease
PLOS ONE
Pareja-Blanco, F; Rodriguez-Rosell, D; Aagaard, P; Sanchez-Medina, L; Ribas-Serna, J; Mora-Custodio, R; Otero-Esquina, C; Yanez-Garcia, JM; Gonzalez-Badillo, JJ
Time Course of Recovery From Resistance Exercise With Different Set Configurations
JOURNAL OF STRENGTH AND CONDITIONING RESEARCH
Hallab, A; Lange, C; Apostolova, I; Ozden, C; Gonzalez-Escamilla, G; Klutmann, S; Brenner, W; Grothe, MJ; Buchert, R
Impairment of Everyday Spatial Navigation Abilities in Mild Cognitive Impairment Is Weakly Associated with Reduced Grey Matter Volume in the Medial Part of the Entorhinal Cortex
JOURNAL OF ALZHEIMERS DISEASE
Linazasoro-Cristobal, G; del Val, LJL; Ruiz-Espiga, PG; Lopez-Manzanares, L; Luquin-Piudo, MR; Martinez-Castrillo, JC; Mir, P; Pagonabarraga-Mora, J
Optimized clinical management of Parkinson's disease with opicapone. Recommendations from Spanish experts
REVISTA DE NEUROLOGIA
Gonzalez-Quereda, L; Rodriguez, MJ; Diaz-Manera, J; Alonso-Perez, J; Gallardo, E; Nascimento, A; Ortez, C; Natera-de Benito, D; Olive, M; Gonzalez-Mera, L; de Munain, AL; Zulaica, M; Poza, JJ; Jerico, I; Tome, L; Riera, P; Milisenda, J; Sanchez, A; Garrabou, G; Llano, I; Madruga-Garrido, M; Gallano, P
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
GENES
Forcadell E; Garcia-Delgar B; Nicolau R; Perez-Vigil A; Cordovilla C; Lazaro L; Ibanez L; Mir P; Madruga-Garrido M; Correa-Vela M; Morer A
Trastornos de tics e impulso premonitorio: validacion de la version espanola de la Escala para el Impulso Premonitorio al Tic en ninos y adolescentes
Neurologia
Jesus, S; Labrador-Espinosa, MA; Adarmes, AD; Mendel-Del Barrio, C; Martinez-Castrillo, JC; Alonso-Canovas, A; Alonso, PS; Novo-Ponte, S; Alonso-Losada, MG; Ariztegui, NL; Rodriguez, JCS; Morales, MI; Gaston, I; Bescos, FL; Ibarra, PC; Kulisevsky, J; Pagonabarraga, J; Pascual-Sedano, B; Martinez-Martin, P; Santos-Garcia, D; Mir, P
Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort
SCIENTIFIC REPORTS
Moreno-Grau S, de Rojas I, Hernández I, Quintela I, Montrreal L, Alegret M, Hernández-Olasagarre B, Madrid L, González-Perez A, Maroñas O, Rosende-Roca M, Mauleón A, Vargas L, Lafuente A, Abdelnour C, Rodríguez-Gómez O, Gil S, Santos-Santos MÁ, Espinosa A, Ortega G, Sanabria Á, Pérez-Cordón A, Cañabate P, Moreno M, Preckler S, Ruiz S, Aguilera N, Pineda JA, Macías J, Alarcón-Martín E, Sotolongo-Grau O, GR@ACE consortium, DEGESCO consortium, Alzheimer's Disease Neuroimaging Initiative, Marquié M, Monté-Rubio G, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, Ruiz A
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.
Alzheimers Dement.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Ann Neurol.
Chamorro A, Mir P
Raising serum urate levels in Parkinson disease: A strategy only for women?
Neurology.
Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL, American Genome Center, Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-Escrig A, Duarte J, Vives F, Duran R, Hoenicka J, Alvarez V, Infante J, Marti MJ, Clarimón J, López de Munain A, Pastor P, Mir P, Singleton A, International Parkinson Disease Genomics Consortium
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Mov Disord.
Fernández-Santiago R, Martín-Flores N, Antonelli F, Cerquera C, Moreno V, Bandres-Ciga S, Manduchi E, Tolosa E, Singleton AB, Moore JH, International Parkinson's Disease Genomics Consortium, Martí MJ, Ezquerra M, Malagelada C
SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.
Mov Disord.
Baglioni V, Coutinho E, Menassa DA, Giannoccaro MP, Jacobson L, Buttiglione M, Petruzzelli O, Cardona F, Vincent A, EMTICS collaborative group
Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort.
Brain Behav Immun
Martín-Rodríguez JF, Ramos-Herrero VD, Parras GG, Flores-Martínez Á, Madrazo-Atutxa A, Cano DA, Gruart A, Delgado-García JM, Leal-Cerro A, Leal-Campanario R
Chronic adult-onset of growth hormone/IGF-I hypersecretion improves cognitive functions and LTP and promotes neuronal differentiation in adult rats.
Acta Physiol (Oxf).
Martinez-Martin P, Radicati FG, Rodriguez Blazquez C, Wetmore J, Kovacs N, Ray Chaudhuri K, Stocchi F, PDCS European Study Group
Extensive validation study of the Parkinson's Disease Composite Scale.
Eur J Neurol.
Santos García D, Jesús S, Aguilar M, Planellas LL, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Catalán MJ, López Díaz L, Puente V, García Moreno JM, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Menéndez González M, Seijo M, Rúiz Martínez J, Valero C, Kurtis M, de Fábregues-Boixar O, González Ardura J, Prieto Jurczynska C, Martinez-Martin P, Mir P, COPPADIS Study Group
COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation.
Eur J Neurol.
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Parkinsonism Relat Disord.
Macías-García D, Méndez-Del Barrio C, Jesús S, Labrador MA, Adarmes-Gómez A, Vargas-González L, Carrillo F, Gómez-Garre P, Mir P
Increased bilirubin levels in Parkinson's disease.
Parkinsonism Relat Disord
Olschewski L, Jesús S, Kim HJ, Tunc S, Löns S, Junker J, Zeuner KE, Kühn AA, Kuhlenbäumer G, Schäffer E, Berg D, Kasten M, Ferbert A, Altenmüller E, Brüggemann N, Bauer P, Rolfs A, Jeon B, Bäumer T, Mir P, Klein C, Lohmann K
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Parkinsonism Relat Disord.
Oosterloo M, Bijlsma EK, van Kuijk SM, Minkels F, de Die-Smulders CE
Clinical and genetic characteristics of late-onset Huntington's disease.
Parkinsonism Relat Disord.
Santos García D, de Deus Fonticoba T, Suárez Castro E, Borrué C, Mata M, Solano Vila B, Cots Foraster A, Álvarez Sauco M, Rodríguez Pérez AB, Vela L, Macías Y, Escalante S, Esteve P, Reverté Villarroya S, Cubo E, Casas E, Arnaiz S, Carrillo Padilla F, Pueyo Morlans M, Mir P, Martinez-Martin P, Coppadis Study Group
Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort.
Parkinsonism Relat Disord.
Rodríguez-Caulo EA, Macías D, Adsuar A, Ferreiro A, Arias-Dachary J, Parody G, Fernández F, Daroca T, Rodríguez-Mora F, Garrido JM, Muñoz-Carvajal I, Barquero JM, Valderrama JF, Melero JM
Biological or mechanical prostheses for isolated aortic valve replacement in patients aged 50-65 years: the ANDALVALVE study.
Eur J Cardiothorac Surg.
Openneer TJC, Tárnok Z, Bognar E, Benaroya-Milshtein N, Garcia-Delgar B, Morer A, Steinberg T, Hoekstra PJ, Dietrich A, and the EMTICS collaborative group
The Premonitory Urge for Tics Scale in a large sample of children and adolescents: psychometric properties in a developmental context. An EMTICS study.
Eur Child Adolesc Psychiatry.
Schrag A, Martino D, Apter A, Ball J, Bartolini E, Benaroya-Milshtein N, Buttiglione M, Cardona F, Creti R, Efstratiou A, Gariup M, Georgitsi M, Hedderly T, Heyman I, Margarit I, Mir P, Moll N, Morer A, Müller N, Müller-Vahl K, Münchau A, Orefici G, Plessen KJ, Porcelli C, Paschou P, Rizzo R, Roessner V, Schwarz MJ, Steinberg T, Tagwerker Gloor F, Tarnok Z, Walitza S, Dietrich A, Hoekstra PJ, EMTICS Collaborative Group
European Multicentre Tics in Children Studies (EMTICS): protocol for two cohort studies to assess risk factors for tic onset and exacerbation in children and adolescents.
Eur Child Adolesc Psychiatry.
Regidor I, Santos-García D, Catalán MIJ, Puente V, Valldeoriola F, Grandas F, Mir P, Parra JC, Arbelo JM
Impact of Disease Duration in Effectiveness of Treatment with Levodopa-Carbidopa Intestinal Gel and Factors Leading to Discontinuation.
J Parkinsons Dis.
Sánchez-Juan P, Moreno S, de Rojas I, Hernández I, Valero S, Alegret M, Montrreal L, García González P, Lage C, López-García S, Rodrííguez-Rodríguez E, Orellana A, Tárraga L, Boada M, Ruiz A
The MAPT H1 Haplotype Is a Risk Factor for Alzheimer's Disease in APOE ε4 Non-carriers.
Front Aging Neurosci.
Llera A, Huertas I, Mir P, Beckmann CF
Quantitative Intensity Harmonization of Dopamine Transporter SPECT Images Using Gamma Mixture Models.
Mol Imaging Biol.
Braisch U, Muche R, Rothenbacher D, Landwehrmeyer GB, Long JD, Orth M, REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group
Identification of symbol digit modality test score extremes in Huntington's disease.
Am J Med Genet B Neuropsychiatr Genet
Santos-García D, de Deus Fonticoba T, Suárez Castro E, Aneiros Díaz A, Paz González JM, Feal Panceiras MJ, García Sancho C, Jesús S, Mir P, Aguilar M, Pastor P, Hernández Vara J, de Fábregues-Boixar O, Puente V, Crespo Cuevas A, González-Aramburu I, Infante J, Carrillo Padilla F, Pueyo M, Escalante S, Bernardo N, Solano B, Cots Foraster A, Martinez-Martin P, COPPADIS Study Group
High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson's disease patients.
J Neural Transm (Vienna).
Porcacchia P, Álvarez de Toledo P, Rodríguez-Baena A, Martín-Rodríguez JF, Palomar FJ, Vargas-González L, Jesús S, Koch G, Mir P
Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia.
PLoS One.
Tejera-Parrado C, Jesús S, Periñán MT, Buiza-Rueda D, Oliva-Ariza G, Adarmes-Gómez AD, Macías-García D, Gómez-Garre P, Mir P
A replication study of GWAS-genetic risk variants associated with Parkinson's disease in a Spanish population.
Neurosci Lett.
Kojovic M, Higgins A, Mir P, Jahanshahi M
Enhanced Motivational Modulation of Motor Behaviour with Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease.
Parkinsons Dis.
Macías-García D, Jurado Serrano J, Parada Blazquez MJ, Moniche F
Acute lower limb paresis in a patient with rheumatoid arthritis: Emergency neuroimaging findings.
Neurologia.
Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vilchez Padilla JJ
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.
Neurologia.
Adarmes A.
Diagnostic protocol of hereditary ataxias and hereditary spastic paraplegia
Medicine.
Balestrino R, Hurtado-Gonzalez CA, Stocchi F, Radicati FG, Chaudhuri KR, Rodriguez-Blazquez C, Martinez-Martin P, PDCS European Study Group
Applications of the European Parkinson's Disease Association sponsored Parkinson's Disease Composite Scale (PDCS).
NPJ Parkinsons Dis.
Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M, Koks S
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
NPJ Parkinsons Dis
Carrillo García F. "
Parkinson's disease and other parkinsonisms: diagnostic protocol
"Medicine.
Carrillo García F.
Parkinson's disease and parkinsonism
Medicine.
Carrillo García F.
Therapeutic protocol for Parkinson's disease
Medicine.
Jesús Maestre S.
Diagnostic protocol of tremor
Medicine.
Jesús Maestre S.
Movement disorders. Etiology. Classification. Chorea syndromes and dystonia
Medicine.
Jesús S, Latorre A, Vinuela A, Fahn S, Bhatia KP, Balint B
Stimulus Sensitive Foot Myoclonus: A Clue to Coeliac Disease.
Mov Disord Clin Pract.
Macías García D.
Diagnostic and therapeutic guidelines for polymedicated or with systemic comorbidities patient with movement disorder
Medicine.
Macías García D. "
Other movement disorders: tics and Tourette syndrome, tremor, myoclonus and restless legs syndrome
"Medicine.
Macías García D., Adarmes Gómez A.D.
Varón de 58 años con parkinsonismo, disartria y mioclonías
"Medicine.
Reynolds RH, Botía J, Nalls MA, International Parkinson’s Disease Genomics Consortium (IPDGC), System Genomics of Parkinson’s Disease (SGPD), Hardy J, Gagliano Taliun SA, Ryten M
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
NPJ Parkinsons Dis.
Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z; International Parkinson's Disease Genomics Consortium (IPDGC), Cookson MR, Nalls MA, Singleton AB.
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease
Mov Disord.
Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson's Disease Study Group.
Using global team science to identify genetic Parkinson's disease worldwide
Ann Neurol.
Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z; International Parkinson's Disease Genomic Consortium (IPDGC).
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease
J Med Genet.
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium.
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome wide association studies
Lancet Neurol.
Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium.
LRP10 in α-synucleinopathies.
Lancet Neurology.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG), Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW.
De novo sequence and copy number variants are strongly associated with Tourette disorder and implicate cell polarity in pathogenesis
Cell Reports
Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, Elzerman L, Fremer C, Fründt O, García-Delgar B, Gilbert DL, Grice DE, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibáñez-Gómez L, Jakubovski E, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Mir P, Morer A, Müller-Vahl K, Münchau A, Murphy TL, Plessen KJ, Roessner V, Shin EY, Song DH, Song J, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, King RA, Tischfield JA, Heiman GA, Hoekstra PJ, Dietrich A.
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.
Eur Arch Psychiatry Clin Neurosci.
Ávila-Medina J, Mayoral-González I, Domínguez-Rodríguez A, Gallardo-Castillo I, Ribas J, Ordóñez A, Rosado JA, Smani T.
The Complex Role of Store Operated Calcium Entry Pathways and Related Proteins in the Function of Cardiac, Skeletal and Vascular Smooth Muscle Cells.
Front Physiol.
Brainstorm Consortium.
Analysis of shared heritability in common disorders of the brain.
Science.
Calderón Romero M, Arce Portillo E, López Lobato M, Muñoz Cabello B, Blanco Martínez B, Madruga Garrido M, Alonso Luego O.
[Cryptogenic West syndrome: Clinical profile, response to treatment and prognostic factors].
An Pediatr (Barc).
Catalán MJ, Molina-Arjona JA, Mir P, Cubo E, Arbelo JM, Martínez-Martín P, EDIS Study Group.
Improvement of impulse control disorders associated with levodopa-carbidopa intestinal gel treatment in advanced Parkinson's disease.
J Neurol
Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Álvarez-Ramo R, Sánchez I, Matilla-Dueñas A.
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Brain
García-Ruiz PJ, Sanz-Cartagena P, Martínez-Castrillo JC, Ares-Pensado B, Avilés-Olmos I, Blázquez-Estrada M, Fanjul-Arbos S, García-Caldentey J, Gazulla J, Gutiérrez-García J, Huete-Antón B, Lucas-Rodenas C, Luquin MR, Martínez-Torres I, Medialdea-Natera P, Mendoza-Rodríguez A, Mir-Rivera P, Posada IJ, Ruiz-Martínez J, Sánchez-Alonso P, Trejo-Gabriel Y Galán JM, Vela L, Pena-Segura JL.
[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia].
Rev Neurol.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, López Gómez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martín MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet.
Jiménez-Guerrero R, Gasca J, Flores ML, Pérez-Valderrama B, Tejera-Parrado C, Medina R, Tortolero M, Romero F, Japón MA, Sáez C.
Obatoclax and Paclitaxel Synergistically Induce Apoptosis and Overcome Paclitaxel Resistance in Urothelial Cancer Cells
Cancers (Basel).
Macías-García D, Bernal Sánchez-Arjona M, López-Arellano L, Pinero P.
[Bilateral Wallerian degeneration of pontocerebellar fibres secondary to pontine infarction].
Rev Neurol.
. Martínez-Martín P, Kulisevsky J, Mir P, Tolosa E, García-Delgado P, Luquin MR.
Validation of a simple screening tool for early diagnosis of advanced Parkinson's disease in daily practice: the CDEPA questionnaire
NPJ Parkinsons Dis
Martín-Rodríguez JF, Mir P.
Short-afferent inhibition and cognitive impairment in Parkinson's disease: A quantitative review and challenges.
Neurosci Lett
Martín-Rodríguez JF, Mir P.
Automatic and voluntary motor inhibition: Intact processes for tic suppression?
Mov Disord.
Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vílchez Padilla JJ.
Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.
Neurologia.
Ray NJ, Bradburn S, Murgatroyd C, Toseeb U, Mir P, Kountouriotis GK, Teipel SJ, Grothe MJ.
In vivo cholinergic basal forebrain atrophy predicts cognitive decline in de novo Parkinson's disease.
Brain.
Santos-García D, Catalán MJ, Puente V, Valldeoriola F, Regidor I, Mir P, Matías-Arbelo J, Parra JC, Grandas F.
Continuous intestinal infusion of levodopa-carbidopa in patients with advanced Parkinson's disease in Spain: Subanalysis by autonomous community.
Neurologia
". Sharma J, Macías-García D, Zaidi A, Espay AJ. .
Teaching Video NeuroImages: The signs of dystonic tremor: Tremulous "escanciador"
Neurology
Tejera-Parrado C, Jesús S, López-Ruíz A, Buiza-Rueda D, Bonilla-Toribio M, Bernal-Bernal I, Periñán MT, Vargas-González L, Gómez-Garre P, Mir P.
TMEM230 in Parkinson's disease in a southern Spanish population.
PLoS One.
Valldeoriola F, Grandas F, Arbelo JM, Blázquez Estrada M, Calopa Garriga M, Campos-Arillo VM, García Ruiz PJ, Gómez Esteban JC, Leiva Santana C, Martínez Castrillo JC, Mir P, Salvador Aliaga A, Vivancos Matellano F, Yáñez Baña RM. .
Spanish expert consensus on the use of safinamide in Parkinson's disease.
Neurologia
Andrade-Campos M, Alfonso P, Irún P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernández-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martín-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P.
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Orphanet J Rare Dis.
Ayala A, Triviño-Juárez JM, Forjaz MJ, Rodríguez-Blázquez C, Rojo-Abuin JM, Martínez-Martín P.
Parkinson's Disease Severity at 3 Years Can Be Predicted from Non-Motor Symptoms at Baseline.
Front Neurol
Benítez-Rivero S, Palomar FJ, Martín-Rodríguez JF, Álvarez de Toledo P, Lama MJ, Huertas-Fernández I, Cáceres-Redondo MT, Porcacchia P, Mir P.
Abnormal sensorimotor integration correlates with cognitive profile in vascular parkinsonism.
J Neurol Sci.
Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blázquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Mov Disord.
. De Castro-Orós I, Irún P, Cebolla JJ, Rodríguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Domínguez C, Pocoví M, Spanish NP-C Group.
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study
J Transl Med.
di Biase L, Brittain JS, Shah SA, Pedrosa DJ, Cagnan H, Mathy A, Chen CC, Martín-Rodríguez JF, Mir P, Timmerman L, Schwingenschuh P, Bhatia K, Di Lazzaro V, Brown P.
Tremor stability index: a new tool for differential diagnosis in tremor syndromes.
Brain.
García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutiérrez A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R.
N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
Mov Disord
Huertas I, Jesús S, García-Gómez FJ, Lojo JA, Bernal-Bernal I, Bonilla-Toribio M, Martín-Rodríguez JF, García-Solís D, Gómez-Garre P, Mir P.
Genetic factors influencing frontostriatal dysfunction and the development of dementia in Parkinson's disease.
PLoS One.
Huertas I, Jesús S, Lojo JA, García-Gómez FJ, Cáceres-Redondo MT, Oropesa-Ruiz JM, Carrillo F, Vargas-González L, Martín Rodríguez JF, Gómez-Garre P, García-Solís D, Mir P.
Lower levels of uric acid and striatal dopamine in non-tremor dominant Parkinson's disease subtype.
PLoS One.
Huertas I, Oldehinkel M, van Oort ESB, García-Solis D, Mir P, Beckmann CF, Marquand AF.
A Bayesian spatial model for neuroimaging data based on biologically informed basis functions.
Neuroimage
Luquin MR, Kulisevsky J, Martínez-Martín P, Mir P, Tolosa ES.
Consensus on the Definition of Advanced Parkinson's Disease: A Neurologists-Based Delphi Study (CEPA Study).
Parkinsons Dis
Tejera-Parrado C, Jesús S, Huertas-Fernández I, Bernal-Bernal I, Bonilla-Toribio M, Córdoba-Tevar I, Abreu-Rodríguez I, Carrillo F, Bernal-Escudero M, Vargas-González L, Carballo M, Gómez-Garre P, Mir P.
Genetic analysis of CHCHD2 in a southern Spanish population.
Neurobiol Aging.
Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C.
Screening study of TUBB4A in isolated dystonia.
Parkinsonism Relat Disord
Libros y artículos en libros
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Ann Clin Transl Neurol.
Adarmes Gómez A.
Síndromes atáxicos. Ataxias heredodegenerativas
Medicine

Actualidad

RETOS-COLABORACIÓN 2019 - MIR RIVERA, PABLO- RTC2019-007150-1- financiado por el Ministerio de Ciencia e Innovación/ AGENCIA ESTATAL DE INVESTIGACIÓN

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Título: “Solución sanitaria móvil basada en el perfil genético, análisis de imagen y monitorización continua de síntomas para el manejo personalizado de pacientes con enfermedad de Parkinson (GiMO-PD)”

El OBJETIVO GENERAL del proyecto GiMo-PD es: DESARROLLAR UNA SOLUCIÓN TECNOLÓGICA MULTIMODAL QUE APOYE AL PROCESO DE TOMAS DE DECISIONES SOBRE LA ELECCIÓN DE TRATAMIENTOS INDIVIDUALIZADOS DE PACIENTES CON ENFERMEDAD DE PARKINSON. La enfermedad de Parkinson (EP) es la segunda enfermedad neurodegenerativa más frecuente1. Una de las limitaciones de su tratamiento es la aparición de efectos no deseados, tales como las fluctuaciones motoras, discinesias y otras alteraciones motoras. Añadido a esto, la manera de responder los pacientes al tratamiento no es siempre la misma, añadiendo una gran disparidad de respuestas lo que presenta una gran variabilidad en la progresión clínica2. En la práctica médica, suele producirse que los clínicos aún usan un enfoque de "ensayo y error" a la hora de optimizar los tratamientos de sus pacientes (por ejemplo, aumentar o reducir dosis, decidir si cambiar un fármaco o combinarlo con otro). Igualmente, suele ser común que este enfoque conlleve grandes gastos socio-económicos y clínicos3. Ambos aspectos, unidos al incremento de la prevalencia de la EP a medida que envejece la población, existe pues una necesidad urgente de desarrollar nuevos paradigmas en el modelo de atención al paciente con EP. La investigación básica y clínica ha aportado durante la última década una cantidad considerable de marcadores biológicos y clínicos con grandes efectos y alta capacidad predictiva sobre el transcurso de la EP y la respuesta al tratamiento4, algunos de los cuales han sido reportados por el grupo de investigación de FISEVI participante en la presente propuesta5. Bajo la filosofía de la "medicina de precisión", el presente proyecto aprovecha este conocimiento para armonizarlo en un sistema de apoyo a la decisión clínica, GiMo PD, en el cual los procesos de diagnóstico y tratamiento se basan en la integración de biomarcadores provenientes de fuentes heterogéneas de información biológica.

 

RETOS-COLABORACIÓN 2015 - MIR RIVERA, PABLO RTC-2015-3309-1 financiado por MINISTERIO DE ECONOMÍA Y COMPETITIVIDAD

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Título: “Desarrollo de una terapia para el tratamiento de variantes genéticas de α-sinucleína en la enfermedad de Parkinson”

El objetivo de este proyecto es el desarrollo de una terapia basada en el compuesto NLF-PD-1233 (de nLife), dirigido a los pacientes con enfermedad de Parkinson que presentan alteraciones en la expresión del gen de la alfa-sinucleína.

La selección de pacientes en función de sus variantes génicas permitirá normalizar la población en estudio y obtener una mayor fortaleza en los estudios de identificación de nuevos biomarcadores.

Para la búsqueda de biomarcadores se evaluará la eficacia del tratamiento con NLF-PD-1233 en un modelo in-vitro de progresión de la enfermedad en células IPCs de pacientes que presentan estas alteraciones del gen SNCA. Por otra parte, el consorcio estudiará biomarcadores subrogados al tratamiento con NLF-PD-1233 asociados a neuroinflamación, neurodegeneración, medidas de viabilidad celular, función neuronal, microPET y estudios de comportamiento, en modelos in-vitro, in-vivo y en un modelo de administración crónica de MPTP en ratones transgénicos que presentan duplicación o triplicación del gen SNCA y las mutaciones puntuales del SNCA más abundantes.