Estudio de fase III multinacional, aleatorizado, doble ciego, controlado con placebo, de liberación génica sistémica para evaluar la seguridad y la eficacia de SRP-9001 en sujetos con distrofia muscular de Duchenne (EMBARK).

[Translated article] Cybersecurity: a priority for pharmacy services in the age of artificial intelligence

Marin, Cayetano M. Hernandez, Monte-Boquet, Emilio, Andres, Jose Luis Poveda

Editorial Material. 10.1016/j.farma.2024.08.009. 2024

[Translated article] Good humanisation practices in the healthcare of patients with rare diseases in Pharmacy Services

Company Albir MJ, Andrés JLP, Solsona MDE

Article. 10.1016/j.farma.2023.10.004. 2024

[Translated article] New challenges in advanced therapies.

Megías-Vericat JE; (...); Poveda Andrés JL

Article. 10.1016/j.farma.2024.05.001. 2024

• 
• PlumX Metrics

  

  • Captures
    • Readers: 3

  see details

[Translated article] Pharmacokinetic-guided switching from standard half-life factor VIII to extended half-life pegylated factor VIII in haemophilia A therapy in clinical practice.

Chovi-Trull, Maria; (...); Andres, Jose Luis Poveda

Article. 10.1016/j.farma.2024.12.007. 2025

[Translated article] Real-world effectiveness and safety of nivolumab in patients with relapsed or refractory classical Hodgkin lymphoma.

Fernandez, Laura Lorente; (...); Andres, Jose Luis Poveda

Article. 10.1016/j.farma.2024.09.006. 2024

A multi-criteria decision analysis on the value of nintedanib for interstitial lung diseases.

Zozaya, Neboa; (...); Verde, Luis

Article. 10.1017/S0266462322000459. 2022

• 
• 
• 3

  

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

• 
• 
• 9

  

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

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

Meeting Abstract. 2022

Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry

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

Meeting Abstract. 10.1016/j.nmd.2022.07.144. 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

• 
• 4

  

Assessing the value of moderate-to-severe atopic dermatitis treatment using multi-criteria decision analysis (MCDA).

Pereyra-Rodríguez JJ; (...); Ortiz de Frutos FJ

Letter. 10.1111/jdv.19432. 2023

• 
• 
• PlumX Metrics

  

  • Captures
    • Readers: 7

  see details
• 1

  

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

• PlumX Metrics

  

  • Captures
    • Readers: 4

  see details

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Ceballos F; (...); Domínguez-González C

Article. 10.1212/NXG.0000000000200138. 2024

• 
• 
• 4

  

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

• PlumX Metrics

  

  • Captures
    • Readers: 3

  see details
• 1

  

Consensus recommendations for the improvement of inter- and intra-centre care coordination in the management of hemophilia.

Montoro-Ronsano JB; (...); Soto-Ortega I

Article. 10.1016/j.farma.2023.01.003. 2023

• 
• 
• PlumX Metrics

  

  • Captures
    • Readers: 48

  see details

Consensus recommendations for the improvement of inter- and intra-centre care coordination in the management of hemophilia.

Montoro-Ronsano, Jose Bruno; (...); Soto-Ortega, Inmaculada

Article. 10.1016/j.farma.2023.04.002. 2023

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

COST-EFFECTIVENESS ANALYSIS OF DIFELIKEFALIN FOR THE TREATMENT OF CHRONIC KIDNEY DISEASE ASSOCIATED-PRURITUS IN SPAIN

Sanchez-Alvarez, Emilio E.; (...); Hernaez Colque, M.

Meeting Abstract. 2024

CuidAME: Registry for longitudinal data collection of Spanish SMA patients

Segovia-Simon, S.; (...); Nascimento, A.

Meeting Abstract. 10.1016/j.nmd.2022.07.078. 2022

• 
• 
• 2

  

Cybersecurity, a priority for pharmacy services in the age of artificial intelligence.

Hernández Marín CM, Monte-Boquet E, Poveda Andrés JL

Editorial Material. 10.1016/j.farma.2024.08.001. 2024

• 
• 
• PlumX Metrics

  

  • Captures
    • Readers: 50

  see details

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

• 
• 
• 1

  

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)

Pitarch Castellano, I; (...); Vazquez-Costa, J. F.

Article. 10.1016/j.nrl.2021.07.008. 2022

• 
• 
• PlumX Metrics

  

  • Citations
    • Policy Citations: 1
    • Citation Indexes: 13
  • Captures
    • Readers: 65
  • Mentions
    • News Mentions: 1
  • Social Media
    • Shares, Likes & Comments: 1

  see details
• 9

  

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

Pitarch Castellano I; (...); Vázquez-Costa JF

Practice Guideline. 10.1016/j.nrleng.2021.07.002. 2022

• 
• PlumX Metrics

  

  • Citations
    • Citation Indexes: 7
    • Policy Citations: 1
  • Captures
    • Readers: 22
  • Social Media
    • Shares, Likes & Comments: 3

  see details
• 11

  

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Martinez-Marin, Rafael Jenaro; (...); Diaz-Manera, Jordi

Article. 10.1016/j.nmd.2023.10.001. 2024

Determining value in the treatment of activated PI3Kdelta syndrome in Spain: a multicriteria decision analysis from the perspective of key stakeholders.

Abad, Maria Reyes; (...); Gil, Alicia

Article. 10.33393/grhta.2024.3041. 2024

• 
• 2

  

Determining what represents value in the treatment of prurigo nodularis and its key unmet needs in Spain through Multi-Criteria Decision Analysis

Silvestre, Juan Francisco; (...); Serra-Baldrich, Esther

Article. 10.1002/jvc2.275. 2024

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

• 
• 
• 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

• 
• 
• 13

  

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

Asensi Cantó P; (...); Guerreiro M

Article. 10.1111/tid.14067. 2023

• 
• 
• 2

  

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

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

Article. 10.1002/ana.26461. 2022

• 
• 
• 11

  

Expanding the phenotype of GARS1 mutations

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

Meeting Abstract. 2023

Extracellular vesicles from dental pulp mesenchymal stem cells modulate macrophage phenotype during acute and chronic cardiac inflammation in athymic nude rats with myocardial infarction.

Amaro-Prellezo, Elena; (...); Sepulveda, Pilar

Article. 10.1186/s41232-024-00340-7. 2024

• 
• 
• 7

  

Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review.

Plaza J; (...); Moret-Tatay I

Article. 10.3390/ijms25073717. 2024

• 
• 
• 6

  

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Schiava, Marianela; (...); Diaz-Manera, Jordi

Article. 10.1136/jnnp-2022-328921. 2022

• 
• 
• 26

  

Healthcare Resource Utilization among Patients between 60-75 Years with Secondary Acute Myeloid Leukemia Receiving Intensive Chemotherapy Induction: A Spanish Retrospective Observational Study

Solana-Altabella, Antonio; (...); Martinez-Cuadron, David

Article. 10.3390/cancers14081921. 2022

• 
• 
• 2

  

Hospital pharmacy initiatives for improving the management of patients with congenital coagulopathies

Bruno Montoro-Ronsano, Jose; (...); Alberto Vella, Vincenzo

Article. 10.7399/fh.11729. 2022

• 
• 2

  

How can artificial intelligence optimize value-based contracting?

Poveda, Jose Luis; (...); Medrano, Ignacio H.

Letter. 10.1186/s40545-022-00475-3. 2022

• 
• 
• 3

  

Immune-mediated necrotising inflammatory myopathy. A rare side effect of statins.

Alarcon Chulilla, Mara; (...); Real Collado, Jose Tomas

Article. 10.1016/j.endien.2022.10.001. 2022

• 
• 1

  

Insights into phenotypic variability caused by GARS1 pathogenic variants.

Jiménez-Jiménez J; (...); Sivera R

Article. 10.1111/ene.16416. 2024

• 
• 2

  

Is erenumab an efficient alternative for the prevention of episodic and chronic migraine in Spain? Results of a cost-effectiveness analysis.

Pozo-Rosich P; (...); Irimia P

Article. 10.1186/s10194-024-01747-w. 2024

• 
• 
• 5

  

Isavuconazole Pharmacokinetics in Critically Ill Patients: Relationship with Clinical Effectiveness and Patient Safety.

Martin-Cerezuela, Maria; (...); Ramirez Galleymore, Paula

Article. 10.3390/antibiotics13080706. 2024

• 
• 2

  

KY mutations are a cause of distal neuromyopathies

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

Meeting Abstract. 2023

Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.

Armengol, Victor D; (...); Roy, Bhaskar

Article. 10.1212/CPJ.0000000000200224. 2024

• 
• 
• 3

  

Long-term reoperation in Tetralogy of Fallot: is it possible to preserve the native pulmonary valve again?

Martineza, Felix Serrano; (...); Molinab, Esteban Peiro

Article. 10.1016/j.circv.2022.01.009. 2022

• 
• 1

  

Manipulación de fármacos para su administración por gastrostomía endoscópica percutánea en pacientes con esclerosis lateral amiotrófica y nutrición enteral.

Vázquez Polo A; (...); Vázquez Costa JF

Article. 10.20960/nh.03946. 2022

Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.

Dominguez-Gonzalez, Cristina; (...); Martin, Miguel Angel

Article. 10.1016/j.nmd.2022.07.399. 2022

• 
• 
• 4

  

Modeling Cardiotoxicity in Pediatric Oncology Patients Using Patient-Specific iPSC-Derived Cardiomyocytes Reveals Downregulation of Cardioprotective microRNAs.

Reinal, Ignacio; (...); Sepulveda, Pilar

Article. 10.3390/antiox12071378. 2023

• 
• 
• 3

  

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

Dominguez-Gonzalez, Cristina; (...); Paradas, Carmen

Article. 10.1007/s00415-021-10957-0. 2022

• 
• 
• 8

  

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

National Survey on the Use of Mobile Applications in Patients with Hemophilia and Other Coagulopathies

Eduardo Megias, Juan; (...); Poveda Andres, Jose Luis

Meeting Abstract. 10.1182/blood-2022-169938. 2022

New challenges of advanced therapies.

Megías-Vericat JE; (...); Poveda Andrés JL

Article. 10.1016/j.farma.2023.11.008. 2024

Nusinersen in adult patients with 5q spinal muscular atrophy: Amulticenter observational cohorts' study.

Vazquez-Costa, Juan F.; (...); Hervas, David

Article. 10.1111/ene.15501. 2022

• 
• 
• 22

  

Observational study to evaluate discontinuation of monotherapy with cobicistat-boosted darunavir in patients with human immunodeficiency virus

Solana-Altabella, Antonio; (...); Poveda-Andres, Jose Luis

Article. 10.1097/MD.0000000000032208. 2022

• 
• 
• 1

  

ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain.

Poveda JL; (...); Badia X

Article. 10.1186/s13023-022-02610-4. 2023

• 
• 
• 1

  

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Gomez-Cebrian, Nuria; (...); Puchades-Carrasco, Leonor

Review. 10.3390/biology12091159. 2023

• 
• 
• 4

  

Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.

Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L

Case Reports. 10.3390/children11050590. 2024

OPTIMIZING MANAGEMENT AND OUTCOMES OF ACTIVATED PHOSPHOINOSITIDE 3-KINASE DELTA SYNDROME (APDS) IN SPAIN: BEWAYAPDS PROJECT

Flores-Moreno, S.; (...); Gil, A.

Meeting Abstract. 2024

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Berzal-Serrano, Alba; (...); Millan, Jose M

Article. 10.3390/ijns11010007. 2025

Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry.

Pitarch-Castellano I; (...); Madruga-Garrido M

Article. 10.3390/children10121880. 2023

• 
• 
• 3

  

Percutaneous closure of ventricular septal defect with the KONAR-MF device

Alvarez-Fuente, Maria; (...); Del Cerro, Maria Jesus

Article. 10.24875/RECICE.M22000277. 2022

• 
• 2

  

Pharmacogenetics in Response to Biological Agents in Inflammatory Bowel Disease: A Systematic Review.

Ballesta-Lopez, Octavio; (...); Poveda-Andres, Jose Luis

Article. 10.3390/ijms26041760. 2025

Pilot study for the implementation of newborn screening for spinal muscular atrophy in Valencia

Berzal-Serrano, Alba; (...); Millan, Jose M.

Meeting Abstract. 10.2174/1871530323666230914122955. 2024

• 
• 3

  

Presence of good humanization practices in the healthcare of patients with rare diseases in Pharmacy Services

Company Albir MJ, Poveda Andrés JL, Edo Solsona MD

Article. 10.1016/j.farma.2023.06.0131130. 2024

Risdiplam in non-sitter patients aged 16years and older with 5q spinal muscular atrophy.

Nungo Garzon, Nancy Carolina; (...); Vazquez-Costa, Juan F

Article. 10.1002/mus.27804. 2023

• 
• 
• 23

  

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

• 
• 17

  

Short-term and long-term safety profile of Givinostat in Duchenne muscular dystrophy

Vucinic, D.; (...); Muelas, N.

Meeting Abstract. 10.1016/j.nmd.2024.07.289. 2024

SMPTall man lettering application in medication information systems as a quality and safety strategy in hospital organization

Iglesias Gomez, Ruben; (...); Poveda Andres, Jose Luis

Article. 10.1111/jcpt.13703. 2022

• 
• 
• 1

  

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

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

Meeting Abstract. 2023

Spanish Pompe registry: new data based on the 130 patients included

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

Meeting Abstract. 10.1016/j.nmd.2023.07.343. 2023

Spanish Pompe Registry: overview based on the 130 patients included

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

Meeting Abstract. 10.1016/j.nmd.2024.07.732. 2024

Spanish Pompe Registry: Update of the 122 patients included

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

Meeting Abstract. 10.1016/j.nmd.2022.07.145. 2022

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

Baviera-Munoz, Raquel; (...); Bataller, Luis

Article. 10.1002/mdc3.13740. 2023

• 
• 
• 4

  

Systematic Review of Pharmacogenetics of ABC and SLC Transporter Genes in Acute Myeloid Leukemia

Megías-Vericat JE; (...); Montesinos P

Review. 10.3390/pharmaceutics14040878. 2022

• 
• 
• 12

  

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

El-Hassar L; (...); Sacconi S

Article. 10.3233/JND-221525. 2022

• 
• 3

  

The association of salivary caffeine levels with serum concentrations in premature infants with apnea of prematurity

Garcia-Robles, Ana; (...); Saenz Gonzalez, Pilar

Article. 10.1007/s00431-022-04628-z. 2022

• 
• 1

  

The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis.

Gil-Nagel A; (...); Gil A

Article. 10.1016/j.yebeh.2022.108711. 2022

• 
• 
• 13

  

The value of the reflective discussion in decision-making using multi-criteria decision analysis (MCDA): an example of determining the value contribution of tabelecleucel for the treatment of the Epstein Barr virus-positive post-transplant lymphoproliferative disease (EBV+ PTLD).

Badia, Xavier; (...); Valles, Joan-Antoni

Article. 10.1186/s13023-024-03324-5. 2024

Toxic-metabolic encephalopathy induced by metronidazole and disulfiram: classics never die.

Chovi-Trull, Maria; (...); Poveda-Andres, Jose Luis

Article. 10.1136/ejhpharm-2024-004184. 2024

• 
• 1

  

Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection

Diez-Fuertes F; (...); Rodríguez-Mora S

Article. 10.3389/fcell.2022.839813. 2022

• 
• 
• 2

  

Treatment of spinal muscular atrophy in European countries: A call to action

Vazquez-Costa, Juan F.; (...); Cattinari, Maria Grazia

Article. 10.1111/ene.15522. 2022

• 
• 2

  

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.

Vazquez-Costa, Juan F.; (...); Madruga-Garrido, Marcos

Article. 10.1007/s40120-022-00411-2. 2022

• 
• 
• 12

  

Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients.

Cortes, P Lizandra; (...); Vázquez-Costa JF

Article. 10.1016/j.nrleng.2022.05.001. 2022

• 
• 2

  

VALUE CRITERIA FOR OUTCOMES BASED MANAGED ENTRY AGREEMENT OF CAR-T IN RELAPSED OR REFRACTORY MULTIPLE MYELOMA (RRMM) THROUGH MCDA

Poveda, J. L.; (...); Lizan, L.

Meeting Abstract. 2023