Lüdger Schöls

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

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

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

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

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

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

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

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

The European Reference Network for Rare Neurological Diseases

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia

Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

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

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Serum NfL in spinocerebellar ataxia type 1 is increased already at the preataxic stage, correlating with proximity to clinical onset

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

ATPase Domain <scp><i>AFG3L2</i></scp> Mutations Alter <scp>OPA1</scp> Processing and Cause Optic Neuropathy

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy