D. Borrego-Hernández

发表

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia

Juan Francisco Quesada Espinosa, D. Pérez-Martínez, S. Llamas-Velasco, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex

A. G. Redondo, I. Blair, Shu Yang, 2022, Neurobiology of Disease.

THEME 6 TISSUE BIOMARKERS BIO-01 Not just STMN2 – hunting for TDP-43 cryptic biomarkers in ALS/FTD neuronal tissue

Martin P. Ward, M. Secrier, J. Humphrey, 2022 .

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

C. van Broeckhoven, M. Cruts, J. van der Zee, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

CdSe Quantum Dots in Human Models Derived from ALS Patients: Characterization, Nuclear Penetration Studies and Multiplexing

V. Palomo, Gracia Porras, Á. Martín-Requero, 2021, Nanomaterials.

Molecular Alterations in Sporadic and SOD1-ALS Immortalized Lymphocytes: Towards a Personalized Therapy

P. Boya, Ana Martínez, S. Cerdán, 2021, International journal of molecular sciences.

Cumulative genetic risk and C9orf72 repeat status independently associate with ALS status in two case-control studies

Stephen A. Goutman, J. Hoenicka, B. Traynor, 2022, medRxiv.

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature

J. Esteban-Pérez, D. Pérez-Martínez, S. Llamas-Velasco, 2018, Neurocase.

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

J. Clarimón, A. Lleó, R. Blesa, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts

A. G. Redondo, Gracia Porras, Á. Martín-Requero, 2023, International journal of molecular sciences.

Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

C. Paradas, R. Rojas-García, J. Riancho, 2022, European journal of neurology.

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

Stephen A. Goutman, B. Traynor, P. Pástor, 2023, Neurology: Genetics.

Theme 06 - TISSUE BIOMARKERS

Martin P. Ward, J. Esteban-Pérez, M. Secrier, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

J. Esteban-Pérez, J. Vázquez-Costa, A. García-Redondo, 2024, Biomedicines.