Carlo Wilke

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 64 publications

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: September 17, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

Journal: EBioMedicine

Published: August 20, 2024

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 09, 2024

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Journal: Nature communications

Published: June 05, 2024

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Journal: EBioMedicine

Published: December 29, 2023

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

Journal: Alzheimer's research & therapy

Published: October 27, 2023

Fronto-striatal alterations correlate with apathy severity in behavioral variant frontotemporal dementia.

Fronto-striatal alterations correlate with apathy severity in behavioral variant frontotemporal dementia.

Journal: Brain imaging and behavior

Published: October 09, 2023

NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.

NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 30, 2023

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Last Updated: 09/26/2026