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51

Clinical Response to Thalidomide in the Treatment of Intracranial Tuberculomas

de la Riva, Patricia, Urtasun, Miguel, Castillo-Trivino, Tamara, Camino, Xabier, Arruti, Maialen, Mondragón, Elisabet, de Munain, Adolfo Lopez

Journal:

Clinical Neuropharmacology

Year:

2013

Language:

english

File:

PDF, 434 KB

english, 2013

52

Increasing progranulin levels and blockade of the ERK1/2 pathway: Upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia

Alquezar, Carolina, Esteras, Noemí, Encarnación, Ana de la, Moreno, Fermín, de Munain, Adolfo López, Martín-Requero, Ángeles

Journal:

European Neuropsychopharmacology

Year:

2015

Language:

english

File:

PDF, 2.25 MB

english, 2015

53

Identification of ncRNAs as potential therapeutic targets in multiple sclerosis through differential ncRNA – mRNA network analysis

Irizar, Haritz, Muñoz-Culla, Maider, Sáenz-Cuesta, Matías, Osorio-Querejeta, Iñaki, Sepúlveda, Lucía, Castillo-Triviño, Tamara, Prada, Alvaro, Lopez de Munain, Adolfo, Olascoaga, Javier, Otaegui, Davi

Journal:

Year:

2015

Language:

english

File:

PDF, 2.19 MB

english, 2015

54

Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers

Barandiaran, Myriam, Estanga, Ainara, Moreno, Fermín, Indakoetxea, Begoña, Alzualde, Ainhoa, Balluerka, Nekane, Martí Massó, José Félix, de Munain, Adolfo López

Journal:

Journal of the International Neuropsychological Society

Year:

2012

Language:

english

File:

PDF, 527 KB

english, 2012

55

Neurogenetic Disorders in the Basque Population

Massó, José Félix Martí, Zarranz, Juan José, Otaegui, David, López de Munain, Adolfo

Journal:

Annals of Human Genetics

Year:

2015

Language:

english

File:

PDF, 953 KB

english, 2015

56

Age gene expression and coexpression progressive signatures in peripheral blood leukocytes

Irizar, Haritz, Goñi, Joaquín, Alzualde, Ainhoa, Castillo-Triviño, Tamara, Olascoaga, Javier, de Munain, Adolfo Lopez, Otaegui, David

Journal:

Experimental Gerontology

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

57

Assessing the Role of TUBA4A Gene in Frontotemporal Degeneration

Dols-Icardo, Oriol, Iborra, Oriol, Valdivia, Jessica, Pastor, Pau, Ruiz, Agustín, de Munain, Adolfo López, Sánchez-Valle, Raquel, Álvarez, Victoria, Sánchez-Juan, Pascual, Lleó, Alberto, Fortea, Juan,

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 185 KB

english, 2015

58

Ventricular tachycardia on chronic fingolimod treatment for multiple sclerosis: Figure 1

Castillo-Trivino, Tamara, Lopetegui, Itziar, Alarcón-Duque, Jose Antonio, López de Munain, Adolfo, Olascoaga, Javier

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

59

Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle

Toral-Ojeda, Ivan, Aldanondo, Garazi, Lasa-Elgarresta, Jaione, Lasa-Fernández, Haizpea, Fernández-Torrón, Roberto, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara

Journal:

Expert Reviews in Molecular Medicine

Year:

2016

Language:

english

File:

PDF, 3.16 MB

english, 2016

60

Rapidly Reversible Winging Scapula

Fernández-Torrón, Roberto, López de Munain, Adolfo, Camaño, Pilar, García-Bragado, Federico

Journal:

Arthritis & Rheumatology

Year:

2015

Language:

english

File:

PDF, 111 KB

english, 2015

61

DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease

Bergareche, Alberto, Rodríguez-Oroz, Maria Cruz, Estanga, Ainara, Gorostidi, Ana, López de Munain, Adolfo, Castillo-Triviño, Tamara, Ruiz-Martínez, Javier, Mondragón, Elisabet, Gaig, Carles, Lomeña, F

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 277 KB

english, 2016

62

A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies

Barandika, Olatz, Irigoyen, Cristina, Anasagasti, Ander, Egiguren, Garazi, Ezquerra-Inchausti, Maitane, López de Munain, Adolfo, Ruiz-Ederra, Javier

Journal:

Ophthalmic Research

Year:

2016

Language:

english

File:

PDF, 381 KB

english, 2016

63

Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia

Alquezar, Carolina, Salado, Irene G., de la Encarnación, Ana, Pérez, Daniel I., Moreno, Fermín, Gil, Carmen, de Munain, Adolfo López, Martínez, Ana, Martín-Requero, Ángeles

Journal:

Molecular Neurodegeneration

Year:

2016

Language:

english

File:

PDF, 3.36 MB

english, 2016

64

Dominant LGMD2A: alternative diagnosis or hidden digenism?

Sáenz, Amets, López de Munain, Adolfo

Journal:

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

65

SncRNA (microRNA & snoRNA) opposite expression pattern found in multiple sclerosis relapse and remission is sex dependent

Muñoz-Culla, Maider, Irizar, Haritz, Sáenz-Cuesta, Matías, Castillo-Triviño, Tamara, Osorio-Querejeta, Iñaki, Sepúlveda, Lucía, López de Munain, Adolfo, Olascoaga, Javier, Otaegui, David

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

66

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons

López de Maturana, Rakel, Lang, Valérie, Zubiarrain, Amaia, Sousa, Amaya, Vázquez, Nerea, Gorostidi, Ana, Águila, Julio, López de Munain, Adolfo, Rodríguez, Manuel, Sánchez-Pernaute, Rosario

Journal:

Journal of Neuroinflammation

Year:

2016

Language:

english

File:

PDF, 3.63 MB

english, 2016

67

heterogeneity

Salviati, Leonardo, Boileau, Pascal, Lopez, Adolfo, Arregui, De Munain, Der, Silvère M Van

Year:

2013

Language:

english

File:

PDF, 415 KB

english, 2013

68

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa

Ezquerra-Inchausti, Maitane, Barandika, Olatz, Anasagasti, Ander, Irigoyen, Cristina, López de Munain, Adolfo, Ruiz-Ederra, Javier

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 570 KB

english, 2017

69

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOE ɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium

Pastor, Pau, Moreno, Fermín, Clarimón, Jordi, Ruiz, Agustín, Combarros, Onofre, Calero, Miguel, de Munain, Adolfo López, Bullido, Maria J., de Pancorbo, Marian M., Carro, Eva, Antonell, Anna, Coto, El

Journal:

Journal of Alzheimer's Disease

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

70

Trimetazidine Induces Parkinsonism, Gait Disorders and Tremor

Massó, José-Félix Martí, Martí, Itxaso, Carrera, Nieves, Poza, Juan-José, de Munain, Adolfo López

Journal:

Year:

2005

File:

PDF, 191 KB

2005

71

Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis

Gil-Bea, Francisco J, Aldanondo, Garazi, Lasa-Fernández, Haizpea, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara

Journal:

Expert Reviews in Molecular Medicine

Year:

2017

Language:

english

File:

PDF, 853 KB

english, 2017

72

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarrea

Journal:

Scientific Reports

Year:

2017

File:

PDF, 1.21 MB

2017

73

Copy number variation analysis increases the diagnostic yield in muscle diseases

Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, de Munain, Adolfo Lopez, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 458 KB

english, 2017

74

Advances in gene therapies for limb-girdle muscular dystrophies

Mateos-Aierdi, Alba Judith, Aiastui, Ana, Goicoechea, Maria, de Munain, Adolfo López

Journal:

Advances in Regenerative Biology

Year:

2014

Language:

english

File:

PDF, 776 KB

english, 2014

75

The increasing importance of environmental conditions in amyotrophic lateral sclerosis

Riancho, Javier, Bosque-Varela, Pilar, Perez-Pereda, Sara, Povedano, Mónica, de Munaín, Adolfo López, Santurtun, Ana

Journal:

International Journal of Biometeorology

Year:

2018

Language:

english

File:

PDF, 904 KB

english, 2018

76

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, Cyril, Zhou, Xiaolai, Perkerson, Ralph B, Baker, Matt, Jenkins, Gregory D, Serie, Daniel J, Ghidoni, Roberta, Benussi, Luisa, Binetti, Giuliano, López de Munain, Adolfo, Zulaica, Miren, Moren

Journal:

The Lancet Neurology

Year:

2018

Language:

english

File:

PDF, 709 KB

english, 2018

77

The panniculus carnosus muscle: an evolutionary enigma at the intersection of distinct research fields

Naldaiz-Gastesi, Neia, Bahri, Ola A., López de Munain, Adolfo, McCullagh, Karl J. A., Izeta, Ander

Journal:

Journal of Anatomy

Year:

2018

Language:

english

File:

PDF, 825 KB

english, 2018

78

Inactivation of CDK/pRb Pathway Normalizes Survival Pattern of Lymphoblasts Expressing the FTLD-Progranulin Mutation c.709-1G>A

Alquezar, Carolina, Esteras, Noemí, Alzualde, Ainhoa, Moreno, Fermín, Ayuso, Matilde S., López de Munain, Adolfo, Martín-Requero, Ángeles, Jordan-Sciutto, Kelly

Journal:

Year:

2012

Language:

english

File:

PDF, 3.71 MB

english, 2012

79

α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers

Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F., Cruz, María, Varghese, Shiji, Qureshi, Mohamed M., Alzahmi, Fatimah, Al-Hayani, Abdulmonem, de Munáin, Adolfo López, E

Journal:

Year:

2012

Language:

english

File:

PDF, 284 KB

english, 2012

80

Cancer Phenotype in Myotonic Dystrophy Patients: Results from a Meta-analysis

Emparanza, Jose I., de Munain, Adolfo López, Greene, Mark H., Matheu, Ander, Fernández-Torrón, Roberto, Gadalla, Shahinaz M.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.90 MB

english, 2018

81

Editorial: Role of Stem Cells in Skeletal Muscle Development, Regeneration, Repair, Aging, and Disease

Muñoz-Cánoves, Pura, Carvajal, Jaime J., Lopez de Munain, Adolfo, Izeta, Ander

Journal:

Frontiers in Aging Neuroscience

Year:

2016

Language:

english

File:

PDF, 250 KB

english, 2016

82

Modeling neural differentiation on micropatterned substrates coated with neural matrix components

García-Parra, Patricia, Cavaliere, Fabio, Maroto, Marcos, Bilbao, Leire, Obieta, Isabel, López de Munain, Adolfo, Álava, José Iñaki, Izeta, Ander

Journal:

Frontiers in Cellular Neuroscience

Year:

2012

Language:

english

File:

PDF, 2.02 MB

english, 2012

83

Acetylome in Human Fibroblasts From Parkinson's Disease Patients

Yakhine-Diop, Sokhna M. S., Rodríguez-Arribas, Mario, Martínez-Chacón, Guadalupe, Uribe-Carretero, Elisabet, Gómez-Sánchez, Rubén, Aiastui, Ana, López de Munain, Adolfo, Bravo-San Pedro, José M., Niso

Journal:

Frontiers in Cellular Neuroscience

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

84

Expression Profiling Analysis Reveals Key MicroRNA–mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa

Anasagasti, Ander, Ezquerra-Inchausti, Maitane, Barandika, Olatz, Muñoz-Culla, Maider, Caffarel, María M., Otaegui, David, López de Munain, Adolfo, Ruiz-Ederra, Javier

Journal:

Investigative Opthalmology & Visual Science

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

85

Muscle imaging in laminopathies: synthesis study identifies meaningful muscles for follow-up

Gómez-Andrés, David, Díaz-Manera, Jordi, Alejaldre, Aida, Pulido-Valdeolivas, Irene, González-Mera, Laura, Olivé, Montse, Vilchez, Juan José, López de Munain, Adolfo, Paradas, Carmen, Muelas, Nuria, S

Journal:

Year:

2018

Language:

english

File:

PDF, 1.36 MB

english, 2018

86

Retinoids and Amyotrophic Lateral Sclerosis

Riancho, Javier, Gil-Bea, Francisco J., López de Munaín, Adolfo

Journal:

Year:

2018

Language:

english

File:

PDF, 42 KB

english, 2018

87

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

Labayru, Garazi, Arenzana, Irati, Aliri, Jone, Zulaica, Miren, López de Munain, Adolfo, Sistiaga A., Andone, McKendrick, Mel

Journal:

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

88

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Ezquerra-Inchausti, Maitane, Anasagasti, Ander, Barandika, Olatz, Garai-Aramburu, Gonzaga, Galdós, Marta, López de Munain, Adolfo, Irigoyen, Cristina, Ruiz-Ederra, Javier

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.59 MB

english, 2018

89

Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers

Barandiaran, Myriam, Moreno, Fermín, de Arriba, María, Indakoetxea, Begoña, Boda, Irati, Gabilondo, Alazne, Tainta, Mikel, López de Munain, Adolfo

Journal:

Journal of the International Neuropsychological Society

Year:

2018

Language:

english

File:

PDF, 482 KB

english, 2018

90

Isolation and characterization of myogenic precursor cells from human cremaster muscle

Naldaiz-Gastesi, Neia, Goicoechea, María, Aragón, Isabel M-ª, Pérez-López, Virginia, Fuertes-Alvarez, Sandra, Herrera-Imbroda, Bernardo, López de Munain, Adolfo, de Luna-Diaz, Resi, Baptista, Pedro M.

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 2.89 MB

english, 2019

91

Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

Ezquerra-Inchausti, Maitane, Anasagasti, Ander, Barandika, Olatz, Garay-Aramburu, Gonzaga, Galdós, Marta, López de Munain, Adolfo, Irigoyen, Cristina, Ruiz-Ederra, Javier

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 677 KB

english, 2019

92

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Beijer, Danique, Deconinck, Tine, De Bleecker, Jan L, Dotti, Maria Teresa, Malandrini, Alessandro, Urtizberea, J Andoni, Zulaica, Miren, López de Munain, Adolfo, Asselbergh, Bob, De Jonghe, Peter, Bae

Journal:

Year:

2019

Language:

english

File:

PDF, 1.01 MB

english, 2019

93

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Beijer, Danique, Deconinck, Tine, De Bleecker, Jan L, Dotti, Maria Teresa, Malandrini, Alessandro, Urtizberea, J Andoni, Zulaica, Miren, López de Munain, Adolfo, Asselbergh, Bob, De Jonghe, Peter, Bae

Journal:

Year:

2019

File:

PDF, 1.01 MB

2019

94

Age‐related cognitive decline in myotonic dystrophy type 1: An 11‐year longitudinal follow‐up study

Labayru, Garazi, Aliri, Jone, Zulaica, Miren, López de Munain, Adolfo, Sistiaga, Andone

Journal:

Journal of Neuropsychology

Year:

2019

Language:

english

File:

PDF, 341 KB

english, 2019

95

Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy

Selvaraj, Sridhar, Dhoke, Neha R., Kiley, James, Mateos-Aierdi, Alba Judith, Tungtur, Sudheer, Mondragon-Gonzalez, Ricardo, Killeen, Grace, Oliveira, Vanessa K.P., López de Munain, Adolfo, Perlingeiro

Journal:

Molecular Therapy

Year:

2019

Language:

english

File:

PDF, 2.55 MB

english, 2019

96

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

Lasa-Elgarresta, Jaione, Mosqueira-Martín, Laura, Naldaiz-Gastesi, Neia, Sáenz, Amets, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 2.68 MB

english, 2019

97

Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy

Selvaraj, Sridhar, Dhoke, Neha R., Kiley, James, Mateos-Aierdi, Alba Judith, Tungtur, Sudheer, Mondragon-Gonzalez, Ricardo, Killeen, Grace, Oliveira, Vanessa K.P., López de Munain, Adolfo, Perlingeiro

Journal:

Molecular Therapy

Year:

2019

File:

PDF, 2.55 MB

2019

98

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

Lasa-Elgarresta, Jaione, Mosqueira-Martín, Laura, Naldaiz-Gastesi, Neia, Sáenz, Amets, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara

Journal:

International Journal of Molecular Sciences

Year:

2019

File:

PDF, 2.68 MB

2019

99

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 2.12 MB

2020

100

ALS-derived fibroblasts exhibit reduced proliferation rate, cytoplasmic TDP-43 aggregation and a higher susceptibility to DNA damage

Riancho, Javier, Castanedo-Vázquez, David, Gil-Bea, Francisco, Tapia, Olga, Arozamena, Jana, Durán-Vían, Carlos, Sedano, María José, Berciano, Maria Teresa, Lopez de Munain, Adolfo, Lafarga, Miguel

Journal:

Journal of Neurology

Year:

2020

File:

PDF, 2.99 MB

2020