ESTUDIO PILOTO, MULTICENTRICO, ALEATORIZADO, DOBLE CIEGO, CONTROLADO, PARALELO, PARA EVALUAR LA EFICACIA Y TOLERABILIDAD DE RIVASTIGMINA FRENTE A PLACEBO EN EL TRATAMIENTO DE DOS SINTOMAS COGNITIVOS Y NO COGNITIVOS DE PACIENTES CON ENFERMEDAD DE ALZHEIMER MODERADA-GRAVE.

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: the role of nerve pathology in defining a demyelinating neuropathy.

Argente-Escrig, Herminia; (...); Sevilla, Teresa

Article. 10.1111/nan.12817. 2022

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• 9

  

Amyloid brain-dedicated PET images can diagnose Alzheimer's pathology with Centiloid Scale.

Gandia-Ferrero MT; (...); Martí-Bonmatí L

Article. 10.1016/j.ejmp.2024.103345. 2024

Analysis of Juvenile Onset Pompe Disease patients included in the Spanish Pompe Registry

Martinez Marin, R.; (...); Diaz Manera, J.

Meeting Abstract. 2022

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Esteller D; (...); Díaz-Manera J

Article. 10.1007/s00415-023-11862-4. 2023

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• 4

  

Angiotensin II Receptor Blockers Reduce Tau/ASS42 Ratio: A Cerebrospinal Fluid Biomarkers' Case-Control Study.

Garcia-Lluch, Gemma; (...); Chafer-Pericas, Consuelo

Article. 10.3390/pharmaceutics15030924. 2023

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• 6

  

AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

Cerro-Herreros, Estefania; (...); Artero, Ruben

Article. 10.1126/sciadv.adn6525. 2024

Artificial Intelligence on FDG PET Images Identifies Mild Cognitive Impairment Patients with Neurodegenerative Disease.

Prats-Climent, Joan; (...); Marti-Bonmati, Luis

Article. 10.1007/s10916-022-01836-w. 2022

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• 6

  

Assessment of COVID-19 lockdown effect on early Alzheimer Disease progression.

Pena-Bautista, Carmen; (...); Chafer-Pericas, Consuelo

Article. 10.1007/s00415-023-11899-5. 2023

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• 2

  

Assessment of Lipid Peroxidation in Alzheimer's Disease Differential Diagnosis and Prognosis.

Ferre-Gonzalez, Laura; (...); Chafer-Pericas, Consuelo

Article. 10.3390/antiox11030551. 2022

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• 24

  

Assessment of Plasma and Cerebrospinal Fluid Biomarkers in Different Stages of Alzheimer's Disease and Frontotemporal Dementia.

Álvarez-Sánchez L; (...); Cháfer-Pericás C

Article. 10.3390/ijms24021226. 2023

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• 19

  

Assessment of Screening Approach in Early and Differential Alzheimer's Disease Diagnosis.

Ferré-González L; (...); Cháfer-Pericás C

Article. 10.3390/antiox10111662. 2021

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• 3

  

Associations between antidiabetic medications and cerebrospinal fluid biomarkers of Alzheimer's disease.

Garcia-Lluch, Gemma; (...); Chafer-Pericas, Consuelo

Article. 10.1177/13872877241304995. 2024

Asymptomatic HyperCKemia in the Pediatric Population A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests

Marti, Pilar; (...); Vilchez, Juan Jesus

Article. 10.1212/WNL.0000000000210116. 2025

Attitudes toward seeking professional help among patients with early Alzheimer's disease

Villarejo-Galende, A.; (...); Maurino, J.

Meeting Abstract. 2023

Awareness of Diagnosis in Persons with Early-Stage Alzheimer's Disease: An Observational Study in Spain.

Villarejo-Galende, Alberto; (...); Maurino, Jorge

Article. 10.1007/s40120-022-00367-3. 2022

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• 5

  

Cardiovascular Risk Scales Association with Cerebrospinal Fluid Alzheimer's Disease Biomarkers in Cardiovascular Low Cardiovascular Risk Regions.

García-Lluch G; (...); Cháfer-Pericás C

Article. 10.14283/jpad.2024.16. 2024

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• 2

  

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

Baviera-Muñoz R; (...); Espinós C

Article. 10.1016/j.jns.2021.118062. 2021

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• 6

  

Clinical and genetic spectrum of a large cohort of delta-sarcoglycan muscular dystrophy

Alonso-Perez, J; (...); Diaz-Manera, J

Meeting Abstract. 10.1016/j.nmd.2021.07.202. 2021

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Muelas, Nuria; (...); Vilchez, Juan J

Article. 10.1007/s00415-024-12821-3. 2025

• 1

  

Clinical usefulness of cerebrospinal fluid biomarkers in Alzheimer Disease.

Pena-Bautista, Carmen; (...); Chafer-Pericas, Consuelo

Article. 10.1111/eci.13910. 2022

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• 10

  

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Esteller D; (...); Díaz-Manera J

Correction. 10.1007/s00415-023-12178-z. 2024

CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.

Poyatos-Garcia, Javier; (...); Vilchez, Juan Jesus

Article. 10.1016/j.omtn.2023.01.004. 2023

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• 3

  

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain

Sivera R; (...); Sevilla T

Article. 10.1111/ene.15001. 2021

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• 11

  

Defining Alzheimer's Disease through Proteomic CSF Profiling.

Pena-Bautista, Carmen; (...); Chafer-Pericas, Consuelo

Article. 10.1021/acs.jproteome.4c00590. 2024

Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

Poyatos-Garcia, Javier; (...); Vilchez, Juan J

Article. 10.1186/s13395-024-00353-3. 2024

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• 1

  

Depression and Suicide Risk in Mild Cognitive Impairment: The Role of Alzheimer's Disease Biomarkers

Ferrer-Cairols, Ines; (...); Salvador, Alicia

Article. 10.7334/psicothema2022.103. 2022

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• 7

  

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Baviera-Munoz, Raquel; (...); Aller, Elena

Article. 10.1212/NXG.0000000000200038. 2022

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• 9

  

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Topf, Ana; (...); Straub, Volker

Article. 10.1038/s41588-023-01651-0. 2024

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• 13

  

Discordant Amyloid Status Diagnosis in Alzheimer's Disease.

García-Vallés L; (...); Cháfer-Pericás C

Article. 10.3390/biomedicines10112880. 2022

Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.

Asensi Cantó P; (...); Guerreiro M

Article. 10.1111/tid.14067. 2023

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• 2

  

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion

Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan

Article. 10.1002/ana.26461. 2022

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• 11

  

Early Alzheimer's Disease Screening Approach Using Plasma Biomarkers

Alvarez-Sanchez, Lourdes; (...); Chafer-Pericas, Consuelo

Article. 10.3390/ijms241814151. 2023

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• 2

  

Emotion recognition and baseline cortisol levels relationship in early Alzheimer Disease.

Ferrer-Cairols, I.; (...); Chafer-Pericas, C.

Article. 10.1016/j.biopsycho.2023.108511. 2023

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• 6

  

Epigenomics and Lipidomics Integration in Alzheimer Disease: Pathways Involved in Early Stages.

Peña-Bautista C; (...); Chafer-Pericas, Consuelo

Article. 10.3390/biomedicines9121812. 2021

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• 21

  

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Sivera R; (...); Sevilla T

Article. 10.1212/WNL.0000000000209174. 2024

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• 1

  

Expanding the phenotype of GARS1 mutations

Sivera, R.; (...); Teresa, S.

Meeting Abstract. 2023

Fast Declining Prediction in Alzheimer's Disease from Early Clinical Assessment.

Álvarez-Sánchez L; (...); Pericás CC

Article. 10.2174/011570159X332930240925095423. 2024

Givinostat in DMD: results of the Epidys Study

Mercuri, E.; (...); McDonald, C.

Meeting Abstract. 10.1016/j.nmd.2022.07.223. 2022

Human skeletal myopathy myosin mutations disrupt myosin head sequestration

Carrington, Glenn; (...); Ochala, Julien

Article. 2023

Human skeletal myopathy myosin mutations disrupt myosin head sequestration.

Carrington, Glenn; (...); Ochala, Julien

Article. 10.1172/jci.insight.172322. 2023

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• 5

  

Insights from a 7-Year Dementia Cohort (VALCODIS): ApoE Genotype Evaluation.

Baquero, Miguel; (...); Chafer-Pericas, Consuelo

Article. 10.3390/jcm13164735. 2024

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• 2

  

Insights into phenotypic variability caused by GARS1 pathogenic variants.

Jiménez-Jiménez J; (...); Sivera R

Article. 10.1111/ene.16416. 2024

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• 2

  

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

Cabello-Murgui, Javier; (...); Sivera, Rafael

Article. 10.1111/ene.16485. 2024

KY mutations are a cause of distal neuromyopathies

Muelas, N.; (...); Vilchez, J.

Meeting Abstract. 2023

Lipid Peroxidation Assessment in Preclinical Alzheimer Disease Diagnosis

Pena-Bautista, Carmen; (...); Cháfer-Pericás C

Article. 10.3390/antiox10071043. 2021

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• 17

  

Lipids as early and minimally invasive biomarkers for Alzheimer disease.

Casas-Fernandez, Esther; (...); Chafer-Pericas, Consuelo

Article. 10.2174/1570159X19666211102150955. 2021

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• 13

  

Medical help-seeking intentions among patients with early Alzheimer's disease

Villarejo-Galende, Alberto; (...); Maurino, Jorge

Article. 10.3389/fpsyt.2023.1290002. 2023

Misfolded alpha-synuclein detection by RT-QuIC in dementia with lewy bodies: a systematic review and meta-analysis.

Peña-Bautista C; (...); Ferreira D

Article. 10.3389/fmolb.2023.1193458. 2023

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• 18

  

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Marco-Hernández AV; (...); Martínez-Castellano F

Article. 10.1111/cge.14093. 2022

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• 13

  

Muscle MRI-phenotyping of patients with likely pathogenic anoctamin 5 variants

Poulsen, N.; (...); Vissing, J.

Meeting Abstract. 10.1016/j.nmd.2024.07.187. 2024

Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.

Laitila, Jenni; (...); Ochala, Julien

Article. 10.1113/JP286870. 2024

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• 2

  

Myosin dysregulation in nemaline myopathy

Laitila, J.; (...); Ochala, J.

Article. 10.1016/j.nmd.2022.07.017. 2022

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

Ranu, Natasha; (...); Ochala, Julien

Article. 10.1186/s40478-022-01491-9. 2023

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• 24

  

New approach for early and specific Alzheimer disease diagnosis from different plasma biomarkers.

Forte, Anabel; (...); Chafer-Pericas, Consuelo

Article. 10.1016/j.cca.2024.117842. 2024

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• 2

  

New developments and data highlights in the international myotubular and centronuclear myopathy patient registry

Laitila, J.; (...); Ochala, J.

Meeting Abstract. 10.1016/j.nmd.2022.07.018. 2022

New insights into the genetic etiology of Alzheimer's disease and related dementias

Bellenguez, Celine; (...); CHARGE

Article. 10.1038/s41588-022-01024-z. 2022

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• 1.5k

  

Novel Ultrasensitive Detection Technologies for the Identification of Early and Minimally Invasive Alzheimer's Disease Blood Biomarkers.

Alvarez-Sanchez, Lourdes; (...); Chafer-Pericas, Consuelo

Article. 10.3233/JAD-215093. 2022

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• 8

  

Person-centered Assessment in Early Alzheimers Disease (P1-1.Virtual)

Villarejo Galende, Alberto; (...); Maurino, Jorge

Meeting Abstract. 2022

Plasma Lipidomics Approach in Early and Specific Alzheimer's Disease Diagnosis.

Pena-Bautista, Carmen; (...); Chafer-Pericas, Consuelo

Article. 10.3390/jcm11175030. 2022

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• 21

  

Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy.

Cerro-Herreros, E; (...); Artero, R

Article. 10.1016/j.omtn.2021.07.017. 2021

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• 13

  

Prognostic value of cerebrospinal fluid biomarkers in mild cognitive impairment due to Alzheimer disease.

Lopez-Cuevas, R; (...); Chafer-Pericas, C

Article. 10.1016/j.nrleng.2020.07.024. 2023

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• 1

  

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.

Statland, Jeffrey M.; (...); Attie, Kenneth M.

Article. 10.1002/mus.27558. 2022

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• 19

  

Relationship between neuroimaging and emotion recognition in Mild Cognitive Impairment patients.

Gandia-Ferrero, Maria Teresa; (...); Marti-Bonmati, Luis

Article. 10.1016/j.bbr.2023.114844. 2024

Relationship between Plasma Lipid Profile and Cognitive Status in Early Alzheimer Disease.

Pena-Bautista, Carmen; (...); Chafer-Pericas, Consuelo

Article. 10.3390/ijms25105317. 2024

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• 1

  

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

Mercuri E; (...); McDonald CM

Article. 10.1016/S1474-4422(24)00036-X. 2024

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• 42

  

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.

Tawil R; (...); Jiang JG

Article. 10.1016/S1474-4422(24)00073-5. 2024

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• 17

  

Spanish Pompe Registry: New data based on the 130 patients included

Marin, R. Martinez; (...); Manera, J. Diaz

Meeting Abstract. 2023

Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood

Marti, P; (...); VILCHEZ, J

Meeting Abstract. 10.1016/j.nmd.2021.07.340. 2021

Vamorolone versus placebo and prednisone in Duchenne muscular dystrophy: results from a 24-week double-blind randomized trial

Guglieri, M; (...); Andres Sant Joan Deu Hosp

Meeting Abstract. 2021