Maren Rautenberg
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 16 publications
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 02, 2022
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Journal: Brain : a journal of neurology
Published: February 03, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 05, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 29, 2021
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Journal: Neurology. Genetics
Published: May 07, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 05, 2020
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Journal: Scientific reports
Published: May 27, 2020
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Journal: Journal of medical genetics
Published: May 15, 2019
A new PNPLA6 mutation presenting as Oliver McFarlane syndrome.
Journal: Journal of the neurological sciences
Published: April 09, 2018
Peptide length and folding state govern the capacity of staphylococcal β-type phenol-soluble modulins to activate human formyl-peptide receptors 1 or 2.
Journal: Journal of leukocyte biology
Published: March 01, 2015
Last Updated: 09/26/2026