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739510

Funded outputs count: 34
Funder award ID: 739510
OpenAlex ID: G1920181826
SNP rs11618521 modifies transcription factor NANOG-mediated expression of KPNA3 and the age at onset of spinocerebellar ataxia type 3
2026 · Hezhou Han, Leah Czisch, et al. · Acta Neuropathologica
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Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia
2026 · Ugo Sorrentino, Nazanin Mirza-Schreiber, et al. · Clinical Epigenetics
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New tests for trials of very few patients using longitudinal data - a case-study in Autosomal Recessive Cerebellar Ataxias
2026 · Niels Hendrickx, France Mentré, et al. · medRxiv
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Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives
2026 · Audrey Iskandar, Maresa Buchholz, et al. · The Cerebellum
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
2026 · Rebecca Fluri, Mireia Coll-Tané, et al. · The American Journal of Human Genetics
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Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review
2026 · Elisabetta Indelicato, Beatriz Carmona‐Hidalgo, et al. · European Journal of Neurology · 10
The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
2026 · David S Lynch, Charles Wade, et al. · Brain Communications
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Educational attainment and sex modulate clinical outcomes in genetic frontotemporal dementia
2026 · Enrico Premi, Damiano Archetti, et al. · Brain Communications
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration
2025 · Julie F H De Houwer, Elise G Dopper, et al. · Brain · 3
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Investigating the role of neuroinflammation and brain clearance in frontotemporal lobar degeneration using 7T MRI and fluid biomarkers: protocol for a cross-sectional study in a tertiary care setting
2025 · Fieke A. M. Prinse, Louise van der Weerd, et al. · BMJ Open · 4
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Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation
2025 · Rebecca Schüle, Holm Graessner, et al. · Molecular Therapy — Nucleic Acids · 12
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC
2025 · Pablo García-González, Héctor Rodrigo Lara, et al. · European Journal of Human Genetics · 9
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
2025 · Jonathan De Winter, Liedewei Van de Vondel, et al. · Genetics in Medicine · 9
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Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
2024 · Elisabetta Indelicato, Lea D. Schlieben, et al. · Journal of Neurology · 9
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Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
2023 · Jennifer Faber, Moritz Berger, et al. · Annals of Neurology · 35
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Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
2023 · Jasper Ouwerkerk, Stephanie Feleus, et al. · Orphanet Journal of Rare Diseases · 9
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CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia
2022 · Ione O. C. Woollacott, Imogen J. Swift, et al. · Annals of Clinical and Translational Neurology · 12
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Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
2022 · Aitana Sogorb-Esteve, Johanna Nilsson, et al. · Alzheimer s Research & Therapy · 39
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Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 · Erika Souche, Sergi Beltran, et al. · European Journal of Human Genetics · 137
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Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72 -associated frontotemporal dementia and amyotrophic lateral sclerosis
2022 · Katherine M Wilson, Eszter Katona, et al. · Journal of Neurology Neurosurgery & Psychiatry · 30
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
2022 · Steven Laurie, Davide Piscia, et al. · Human Mutation · 64
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Lack of Association of Group A Streptococcal Infections and Onset of Tics
2022 · Anette-Eleonore Schrag, Davide Martino, et al. · Neurology · 27
Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia
2022 · Annika Thierfelder, Jens Seemann, et al. · Movement Disorders · 38
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Differential Impairment of Cerebrospinal Fluid Synaptic Biomarkers in the Genetic Forms of Frontotemporal Dementia
2022 · Aitana Sogorb-Esteve, Johanna Nilsson, et al. · Research Square · 6
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A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia
2021 · Emma L van der Ende, Esther E Bron, et al. · Brain · 60
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