Results 11 to 20 of about 107 (71)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration. [PDF]

Ann Clin Transl Neurol
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Rubio-Guerra S, Bernal S, Almenta D, Pérez-Blanco J, Camacho V, Sala I, Sánchez-Saudinós MB, García Castro J, Selma-González J, Santos-Santos MÁ, Carbayo Á, Turon-Sans J, Rojas-Garcia R, Alcolea D, Fortea J, Lleó A, Dols-Icardo O, Illán-Gala I.   +17 more
europepmc   +2 more sources

Characteristics of subjective cognitive decline associated with amyloid positivity

Alzheimer's &Dementia, Volume 18, Issue 10, Page 1832-1845, October 2022., 2022
Abstract Introduction The evidence for characteristics of persons with subjective cognitive decline (SCD) associated with amyloid positivity is limited. Methods In 1640 persons with SCD from 20 Amyloid Biomarker Study cohort, we investigated the associations of SCD‐specific characteristics (informant confirmation, domain‐specific complaints, concerns ...
Olin Janssen, Willemijn J. Jansen, Stephanie J.B. Vos, Merce Boada, Lucilla Parnetti, Tomasz Gabryelewicz, Tormod Fladby, José Luis Molinuevo, Sylvia Villeneuve, Jakub Hort, Stéphane Epelbaum, Alberto Lleó, Sebastiaan Engelborghs, Wiesje M. van der Flier, Susan Landau, Julius Popp, Anders Wallin, Philip Scheltens, Marcel Olde Rikkert, Peter J. Snyder, Chris Rowe, Gaël Chételat, Agustin Ruíz, Marta Marquié, Elena Chipi, Steffen Wolfsgruber, Michael Heneka, Henning Boecker, Oliver Peters, Jonas Jarholm, Lorena Rami, Adrià Tort‐Merino, Alexa Pichet Binette, Judes Poirier, Pedro Rosa‐Neto, Jiri Cerman, Bruno Dubois, Marc Teichmann, Daniel Alcolea, Juan Fortea, M. Belén Sánchez‐Saudinós, Jarith Ebenau, Cornelia Pocnet, Marie Eckerström, Louisa Thompson, Victor Villemagne, Rachel Buckley, Samantha Burnham, Marion Delarue, Yvonne Freund‐Levi, Åsa K. Wallin, Inez Ramakers, Magda Tsolaki, Hilkka Soininen, Harald Hampel, Luiza Spiru, for the Alzheimer's Disease Neuroimaging Initiative, FACEHBI study group, PREVENT‐AD research group, Betty Tijms, Rik Ossenkoppele, Frans R. J. Verhey, Frank Jessen, Pieter Jelle Visser   +63 more
wiley   +1 more source

The Sant Pau Initiative on Neurodegeneration (SPIN) cohort: A data set for biomarker discovery and validation in neurodegenerative disorders

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 5, Issue 1, Page 597-609, 2019., 2019
Abstract Introduction The SPIN (Sant Pau Initiative on Neurodegeneration) cohort is a multimodal biomarker platform designed for neurodegenerative disease research following an integrative approach. Methods Participants of the SPIN cohort provide informed consent to donate blood and cerebrospinal fluid samples, receive detailed neurological and ...
Daniel Alcolea, Jordi Clarimón, María Carmona‐Iragui, Ignacio Illán‐Gala, Estrella Morenas‐Rodríguez, Isabel Barroeta, Roser Ribosa‐Nogué, Isabel Sala, M. Belén Sánchez‐Saudinós, Laura Videla, Andrea Subirana, Bessy Benejam, Sílvia Valldeneu, Susana Fernández, Teresa Estellés, Miren Altuna, Miguel Santos‐Santos, Lídia García‐Losada, Alexandre Bejanin, Jordi Pegueroles, Víctor Montal, Eduard Vilaplana, Olivia Belbin, Oriol Dols‐Icardo, Sònia Sirisi, Marta Querol‐Vilaseca, Laura Cervera‐Carles, Laia Muñoz, Raúl Núñez, Soraya Torres, M. Valle Camacho, Ignasi Carrió, Sandra Giménez, Constance Delaby, Ricard Rojas‐Garcia, Janina Turon‐Sans, Javier Pagonabarraga, Amanda Jiménez, Rafael Blesa, Juan Fortea, Alberto Lleó   +40 more
wiley   +1 more source

[Telematic adaptation to home mechanical ventilation in patients with amyotrophic lateral sclerosis]. [PDF]

Neurologia, 2023
Balañá Corberó A, Rubio Pérez MÁ, Bertran Recasens B, Martínez Llorens J.   +3 more
europepmc   +2 more sources

[Parkinson-dementia and amyotrophic lateral sclerosis association (complex of Guam). Diagnostic challenge, Mexican patient]. [PDF]

Rev Med Inst Mex Seguro Soc, 2023
Aguilar-Vázquez CA, Gallardo-González LI, Raymundo-Carrillo AD, Reyes-Sosa LC, Martínez-Romo ES.   +4 more
europepmc   +1 more source

Factors associated with the time taken for diagnosis of amyotrophic lateral sclerosis (ALS) in Brazil. An online population-based inquiry. [PDF]

Rev Neurol, 2023
Pereira-Elizeu AV, de Ávila-Panisset J, Rodrigues-da Silva ML, da Silva-Paz LP, da Costa-Cunha K, da Silva ML, Monsores N.   +6 more
europepmc   +1 more source

[Percutaneous gastrostomy as a procedure to improve the survival of patients with amyotrophic lateral sclerosis]. [PDF]

Aten Primaria, 2022
Castro-Rodriguez E, Azagra R, Gómez-Batiste X, Povedano M.   +3 more
europepmc   +1 more source

[Analysis of accidental falls and the integration in the chronicity programs of patients with amyotrophic lateral sclerosis]. [PDF]

Rev Neurol, 2022
Castro-Rodríguez E, Azagra-Ledesma R, Gómez-Batiste Alertón X, Aguyé-Batista A, Zwart-Salmerón M, Cabanas-Valdés R, Caballero-Gómez FM, Clemente-Azagra C.   +7 more
europepmc   +1 more source

[Gastrostomy tubes in patients with amyotrophic lateral sclerosis: indications, safety and experience in a tertiary care centre]. [PDF]

Rev Neurol, 2022
Álvarez-Álvarez M, Rodríguez-López P, Velasco-Guardado A, López-Alburquerque T.   +3 more
europepmc   +1 more source

[Percutaneous endoscopic gastrostomy (PEG) as a procedure to improve survival of patients with amyotrophic lateral sclerosis (ALS)]. [PDF]

Aten Primaria, 2022
Greoles Cano J.
europepmc   +1 more source