Yorck Hellenbroich

Ratzeburger Allee 160
Luebeck, SH 23538, Germany

Last Updated: 09/26/2026

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Found 30 publications

Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A.

Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A.

Journal: Journal of neurology

Published: January 29, 2026

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 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

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Journal: Brain : a journal of neurology

Published: March 06, 2025

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Journal: Brain : a journal of neurology

Published: March 06, 2025

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Journal: Genome medicine

Published: December 20, 2024

Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.

Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.

Journal: Journal of neurology

Published: June 05, 2024

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Journal: Muscles (Basel, Switzerland)

Published: December 15, 2023

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

Journal: Nature genetics

Published: November 03, 2023

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Journal: European journal of medical genetics

Published: October 24, 2022

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.

Journal: Genes

Published: December 20, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026