Amiloidosis hereditaria por transtirretina por la variante Val142Ile en España

Alternate Title: Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain (English)

Authors: de Frutos, Fernando ^{a, b, ⁎}, Herrador, Lorena ^{a, b}, Peiró-Aventín, Belén ^c, Eiros, Rocío ^{d, e, f}, Limeres Freire, Javier ^{f, g, h}, Zorio, Esther ^{f, i, j, k}, Carbayo, Álvaro ^l, Llongueras-Espí, Pasqual ^m, García-Álvarez, Ana ^{n, o}, Ripoll-Vera, Tomás ^p, Macías, Rosa ^q, Vilches, Silvia ^{f, h, r, s}, Ruiz-Bustillo, Sonia ^{t, u}, Arana-Achaga, Xabier ^v, Gayán Ordás, Jara ^w, Piqueras-Flores, Jesús ^{x, y, z}, Ruiz-Cueto, María ^aa, Casasnovas, Carlos ^{ab, ac, ad}, Tirón, Coloma ^{f, m, ae}, Rojas-García, Ricard ^l, Sevilla, Teresa ^{k, ad, af, ag}, Rodríguez-Palomares, José Fernando ^{f, g, h}, González-López, Esther ^{c, f}, Villacorta, Eduardo ^{d, e, f}, García-Pavía, Pablo ^{c, f, o}, González-Costello, José ^{a, b, f, ah}

Source: In Revista Española de Cardiología December 2024

Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain

Alternate Title: Amiloidosis hereditaria por transtirretina por la variante Val142Ile en España (Spanish; Castilian)

Authors: de Frutos, Fernando ^{a, b, ⁎}, Herrador, Lorena ^{a, b}, Peiró-Aventín, Belén ^c, Eiros, Rocío ^{d, e, f}, Limeres Freire, Javier ^{f, g, h}, Zorio, Esther ^{f, i, j, k}, Carbayo, Álvaro ^l, Llongueras-Espí, Pasqual ^m, García-Álvarez, Ana ^{n, o}, Ripoll-Vera, Tomás ^p, Macías, Rosa ^q, Vilches, Silvia ^{f, h, r, s}, Ruiz-Bustillo, Sonia ^{t, u}, Arana-Achaga, Xabier ^v, Gayán Ordás, Jara ^w, Piqueras-Flores, Jesús ^{x, y, z}, Ruiz-Cueto, María ^aa, Casasnovas, Carlos ^{ab, ac, ad}, Tirón, Coloma ^{f, m, ae}, Rojas-García, Ricard ^l, Sevilla, Teresa ^{k, ad, af, ag}, Rodríguez-Palomares, José Fernando ^{f, g, h}, González-López, Esther ^{c, f}, Villacorta, Eduardo ^{d, e, f}, García-Pavía, Pablo ^{c, f, o}, González-Costello, José ^{a, b, f, ah}

Source: In Revista Española de Cardiología (English Edition) December 2024

Profiling TREM2 expression in amyotrophic lateral sclerosis

Authors: Jericó, Ivonne, Vicuña-Urriza, Janire, Blanco-Luquin, Idoia, Macias, Mónica, Martinez-Merino, Leyre, Roldán, Miren, Rojas-Garcia, Ricard, Pagola-Lorz, Inmaculada, Carbayo, Alvaro, De Luna, Noemi, Zelaya, Victoria, Mendioroz, Maite

Source: Brain behavior and immunity. 109:117-126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186627190.0x000001&indx=1&recIds=ETOCvdc_100186627190.0x000001

Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

Authors: Esteller, Diana, Morrow, Jasper, Alonso-Pérez, Jorge, Reyes, David, Carbayo, Alvaro, Bisogni, Giulia, Cateruccia, Michela, Monforte, Mauro, Tasca, Giorgio, Alangary, Aljwhara, Marini-Bettolo, Chiara, Sabatelli, Mario, Laura, Matilde, Ramdharry, Gita, Bolaño-Díaz, Carla, Turon-Sans, Janina, Töpf, Ana, Guglieri, Michella, Rossor, Alexander M., Olive, Montse, Bertini, Enrico, Straub, Volker, Reilly, Mary M., Rojas-García, Ricard, Díaz-Manera, Jordi

Source: In Neuromuscular Disorders October 2023 33(10):744-753

Utility of Postoperative Imaging Software for Deep Brain Stimulation Targeting in Patients with Movement Disorders

Authors: Sánchez-Gómez, Almudena, Camargo, Paola, Cámara, Ana, Roldán, Pedro, Rumià, Jordi, Compta, Yaroslau, Carbayo, Álvaro, Martí, Maria José, Muñoz, Esteban, Valldeoriola, Francesc

Source: In World Neurosurgery October 2022 166:e163-e176

Hemichorea as Presentation of Acute Cortical Ischemic Stroke. Case Series and Review of the Literature

Authors: Carbayo, Álvaro, Sarto, Jordi, Santana, Daniel, Compta, Yaroslau, Urra, Xabier

Source: In Journal of Stroke and Cerebrovascular Diseases October 2020 29(10)

Membrane Proteome-Wide Screening of Autoantibodies in CIDP Using Human Cell Microarray Technology.

Authors: Caballero-Ávila, Marta, Lleixà, Cinta, Pascual-Goñi, Elba, Martín-Aguilar, Lorena, Vidal-Fernandez, Núria, Tejada-Illa, Clara, Collet-Vidiella, Roger, Rojas-Garcia, Ricardo, Cortés-Vicente, Elena, Turon-Sans, Janina, Gallardo, Eduard, Olivé, Montse, Vesperinas, Ana, Carbayo, Alvaro, Llansó, Laura, Martinez-Martinez, Laura, Shock, Anthony, Christodoulou, Louis, Dizier, Benjamin, Freeth, Jim

Source: Neurology® Neuroimmunology & Neuroinflammation; May2024, Vol. 11 Issue 3, p1-12, 12p

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

Authors: Segarra-Casas, Alba, Collet, Roger, Gonzalez-Quereda, Lidia, Vesperinas, Ana, Caballero-Ávila, Marta, Carbayo, Alvaro, Díaz-Manera, Jordi, Rodriguez, María José, Gallardo, Eduard, Gallano, Pia, Olivé, Montse

Source: In Neuromuscular Disorders April 2023 33(4):319-323

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Abstract WP131: Temporal Dynamics of Symptomatic Intracranial Atherosclerotic Plaque Post Contrast Enhancement. A Serial High-resolution MRI Study.

Authors: Carbayo, Alvaro, Martínez-Velasco, Elena, Rodríguez-Velasco, Margarita, Usero, María, Calleja, Ana, Cortijo, Elisa, De Lera, Mercedes, Reyes, Javier, Muñoz, Pedro, Arenillas, Juan F

Source: Stroke (00392499); 2017 Supplement, Vol. 48, pAWP131-AWP131, 1p