Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

Germany

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About

Dr. Ludger Schöls is the Section Head at Eberhard Karls Universität Tübingen in Germany. His research primarily focuses on gene therapy, neurogenetics, and the clinical aspects of rare diseases. He has recently published articles on topics such as advanced metachromatic leukodystrophy, spinocerebellar ataxia type 3, and variants associated with adult-onset leukoencephalopathy. His work also explores the genetic diagnostics of unsolved rare disease cases and the development of innovative models for studying neurological conditions.

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2023

Collaborators (32)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

Ludger Schöls

Research Interests

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Articles (20)

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

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

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Altered brain dynamics index levels of arousal in complete locked-in syndrome

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3

A standardized protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Collaborators (32)

Claire-Sophie Davoine

Meghna Ahuja Bhasin

Sugirthan Sivalingam

Sandrine PASSEMARD

Christiane Zweier

Thomas M. Durcan

Felix Boschann

Sarah Weckhuysen

Samuel Groeschel

João Vasconcelos

Ernest Turro

Patrick Chinnery

Manuela Lima

Konstantina Drosou

Stuart M. Fogel

Theresa Brunet

Giovanni Stevanin

Cristina Januário

Marek Turnovec

Matthis Synofzik

Paola Giunti

Manuel Posada

Mridul Johari

Karen Low

Sheng-Jia Lin

Catharina Schütz

Massimiliano Rossi

Siddharth Banka

Yves Sznajer

Gisèle Bonne

Luis Pereira de Almeida

Lucia Laugwitz

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