A spain-based observational, retrospective, study collecting real-world data on the characteristics, treatment patterns and outcomes of patients with amyloid transthyretin (attr) amyloidosis.

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study

Davila, Lucia Galan; (...); Tarilonte, Patricia

Article. 10.1186/s13023-024-03304-9. 2024

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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

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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

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Effects of Spinal Cord Stimulation in Patients with Small Fiber and Associated Comorbidities from Neuropathy After Multiple Etiologies

Canos-Verdecho, Angeles; (...); Morales-Suarez-Varela, Maria

Article. 10.3390/jcm14020652. 2025

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Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.

de Frutos, Fernando; (...); Gonzalez-Costello, Jose

Article. 10.1016/j.rec.2024.12.012. 2025

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Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency

Seminario, F. De Frutos; (...); Gonzalez-Costello, J.

Meeting Abstract. 10.1093/eurheartj/ehae666.2073. 2024

Impact of SARS-CoV-2 infection and COVID-19 pandemic on the morbidity and mortality of amyotrophic lateral sclerosis patients in Valencia, Spain

Garcia-Casanova, Pilar H.; (...); Vazquez-Costa, Juan F.

Article. 10.1111/ene.16465. 2024

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Insights into phenotypic variability caused by GARS1 pathogenic variants.

Jiménez-Jiménez J; (...); Sivera R

Article. 10.1111/ene.16416. 2024

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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

Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.

Losada Lopez, Ines; (...); Setaro, Francesca

Article. 10.3390/jcm13247587. 2024

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

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

Case Reports. 10.3390/children11050590. 2024

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Safety and efficacy of nipocalimab in adults with generalised myasthenia gravis (Vivacity-MG3): a phase 3, randomised double-blind, placebo-controlled study

Antozzi, Carlo; (...); Sun, Hong

Article. 2025

The cross-sectional area of the median nerve: An independent prognostic biomarker in amyotrophic lateral sclerosis.

Martinez-Paya, J J; (...); Vazquez-Costa, J F

Article. 10.1016/j.nrleng.2024.07.003. 2024

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Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models.

Moreno, Nerea; (...); Artero, Ruben

Article. 10.1186/s40659-024-00496-z. 2024

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