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Author

I. Le Ber

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Open access Sep 2026

Data-driven identification of repurposable drugs for ALS

Amyotrophic lateral sclerosis (ALS) is a severe disease that causes thousands of deaths annually. Current treatments are either limited in effectiveness or not broadly applicable. To discover new options, we conducted a genetics-based screen to identify drugs that could be repurposed for ALS. We analyzed genome-wid...

S. Saez-Atienzar, Luis A. Rojas-Colón, Ruth Chia et al. · 0 citations
Open access Aug 2026

Data-driven mapping of known and novel fluid biomarker progression profiles in genetic frontotemporal lobar degeneration

The model’s accurate estimation of disease stages underscores the value of DEBM for patient stratification, offer a promising tool to support clinical trial design and provide a temporal ordering of multiple CSF proteins.

J. D. De Houwer, Wenjie Kang, Renee van Buuren et al. · 0 citations
Open access Jul 2026

Machine-learning MRI stratification of genetic frontotemporal dementia for clinical trial enrichment

Machine-learning stratification of genetic FTD reveals a progressive and a dissociated disease track and provides individualized progression scores that closely track clinical status, enabling smaller, more efficient prevention and early-intervention trials than conventional MRI or NfL markers alone.

M. Soltaninejad, Y. Iturria-Medina, A. Bouzigues et al. · 0 citations
Review Aug 2026

Toward the clinical application of long-read sequencing in repeat-expansion disorders

This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.

L. Benarroch, J. Pešović, Marzia Rossato et al. · 0 citations
Open access Aug 2026

Educational attainment and sex modulate clinical outcomes in genetic frontotemporal dementia

Sex and educational attainment significantly affect the development and maintenance of cognitive reserve in individuals with genetic FTD, and underscore the importance of identifying disease-modifying interventions since the presymptomatic stages of the disease.

E. Premi, Damiano Archetti, A. Redolfi et al. · 0 citations
#protein folding Open access Aug 2026

Cerebrospinal fluid YWHAG:NPTX2 ratio predicts clinical severity and future phenoconversion in frontotemporal lobar degeneration

Frontotemporal lobar degeneration (FTLD) is a common cause of early-onset dementias marked by progressive declines in behavior, cognition, and/or movement. FTLD neuropathologies, including TDP-43 proteinopathies and primary tauopathies, do not have reliable fluid biomarkers for in-vivo diagnosis nor biomarkers that dir...

H. Oh, J. Downer, Connor D. Dietz et al. · 0 citations

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