Selina Reich

Otfried Müller Str. 27
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 20 publications

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

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 04, 2025

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Journal: Brain : a journal of neurology

Published: November 12, 2024

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Journal: Brain : a journal of neurology

Published: August 27, 2024

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: January 03, 2024

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

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

Journal: Nature medicine

Published: May 01, 2023

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Journal: Human molecular genetics

Published: June 08, 2022

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

Journal: The New England journal of medicine

Published: June 23, 2021

Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.

Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.

Journal: Annals of neurology

Published: June 16, 2021

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

Journal: Frontiers in neurology

Published: March 07, 2021

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

Journal: Journal of neurology

Published: December 06, 2020

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

Journal: Neurology

Published: July 09, 2020

Showing 1-12 of 20

Last Updated: 09/26/2026