Daniel Borrego‐Hernández

Hospital Universitario 12 De Octubre — Spain

Medicine · Health Sciences

9h-index197citations14works10.02yr avg
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Research Topics

Amyotrophic Lateral Sclerosis Research(14), Neurogenetic and Muscular Disorders Research(6), Alzheimer's disease research and treatments(3), Genetic Neurodegenerative Diseases(3), Histone Deacetylase Inhibitors Research(2)

Publications14 total

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
Biomedicines·2024· 10 citedOpen Access
Intermediate Repeat Expansion in ATXN2 Gene as a Risk Factor in ALS and FTD Spanish Population
Preprints.org·2023· 2 citedOpen Access
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
Neurology Genetics·2023· 2 citedOpen Access
Cumulative Genetic Score and <i>C9orf72</i> Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies
Neurology Genetics·2023· 14 citedOpen Access
Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts
International Journal of Molecular Sciences·2023· 9 citedOpen Access
Characterizing <scp><i>SOD1</i></scp> mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
European Journal of Neurology·2022· 9 citedOpen Access
Cumulative genetic risk and <i>C9orf72</i> repeat status independently associate with ALS status in two case-control studies
2022Open Access
TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex
Neurobiology of Disease·2022· 21 citedOpen Access
Expanding the clinical and genetic spectrum of <i>SQSTM1</i>-related disorders in family with personality disorder and frontotemporal dementia
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration·2021· 1 cited
Molecular Alterations in Sporadic and SOD1-ALS Immortalized Lymphocytes: Towards a Personalized Therapy
International Journal of Molecular Sciences·2021· 25 citedOpen Access
CdSe Quantum Dots in Human Models Derived from ALS Patients: Characterization, Nuclear Penetration Studies and Multiplexing
Nanomaterials·2021· 5 citedOpen Access
TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature
Neurocase·2018· 16 cited
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the <i>C9orf72</i> expansion mutation
Journal of Neurology Neurosurgery & Psychiatry·2017· 58 cited
Familial primary lateral sclerosis or dementia associated with Arg573Gly<i>TBK1</i>mutation
Journal of Neurology Neurosurgery & Psychiatry·2017· 25 cited

Frequent Co-authors

Alberto García‐Redondo(14), Jesús Esteban‐Pérez(7), Juan F. Vázquez‐Costa(6), Oriol Dols‐Icardo(4), Ricardo Rojas‐García(4), Pilar Cordero-Vázquez(4), Jordi Pérez‐Tur(4), Javier Riancho(4), Gracia Porras(3), Ángeles Martín‐Requero(3), John Dou(3), Kelly M. Bakulski(3), Kai Guo(3), Junguk Hur(3), Sara Sáez-Atiénzar(3), Ali Stark(3), Ruth Chia(3), Rubén Fernández‐Santiago(3), Sara Bandrés‐Ciga(3), Pilar Gómez‐Garre(3)