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R. Schüle · SciRah

Researcher profile · Semantic Scholar

R. Schüle

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R. Schüle — researcher profile on SciRah

h-index: 53
Works: 222
Citations: 8,434

Most-cited papers

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
D. Pellerin, M. Danzi, C. Wilke, M. Renaud +48 more
2022New England Journal of Medicine228 citations Open access
Semantic Scholar
BIALLELIC MUTATIONS IN SORD CAUSE A COMMON AND POTENTIALLY TREATABLE HEREDITARY NEUROPATHY WITH IMPLICATIONS FOR DIABETES
A. Cortese, Yi Zhu, A. Rebelo, S. Negri +91 more
2020Nature Genetics149 citations Open access
Semantic Scholar
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7 encoding a heat-shock protein
S. Farhan, D. Howrigan, L. Abbott, Joseph R. Klim +31 more
2019Nature Neuroscience122 citations Open access
Semantic Scholar
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
C. Wilke, Eva Haas, K. Reetz, J. Faber +32 more
2020EMBO Molecular Medicine94 citations Open access
Semantic Scholar
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B. Zurek, K. Ellwanger, L. Vissers, R. Schüle +25 more
2021European Journal of Human Genetics88 citations Open access
Semantic Scholar
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives
M. Synofzik, W. V. van Roon-Mom, G. Marckmann, H. V. van Duyvenvoorde +3 more
2021Nucleic Acid Therapeutics77 citations Open access
Semantic Scholar
Sitosterolemia
Alexander K. C. Leung, C. P. Kao, A. L. Wong, T. Kolter +117 more
2020Definitions75 citations Open access
Semantic Scholar
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Tim W. Rattay, T. Lindig, J. Baets, K. Smets +26 more
2019Brain : a journal of neurology68 citations Open access
Semantic Scholar
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
J. Gilley, O. Jackson, M. Pipis, M. Estiar +18 more
2021medRxiv66 citations Open access
Semantic Scholar
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
L. Matalonga, C. Hernández-Ferrer, D. Piscia, R. Schüle +17 more
2021European Journal of Human Genetics62 citations Open access
Semantic Scholar
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
S. Laurie, W. Steyaert, Elke de Boer, K. Polavarapu +105 more
2025Nature Medicine60 citations Open access
Semantic Scholar
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
H. Hengel, C. Bosso-Lefèvre, G. Grady, E. Szenker-Ravi +81 more
2020Nature Communications52 citations Open access
Semantic Scholar
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, A. Rebelo, Elena Buglo, H. Nemati +38 more
2019American Journal of Human Genetics49 citations Open access
Semantic Scholar
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
M. Wagner, D. Osborn, Ina Gehweiler, Maike Nagel +25 more
2019Nature Communications47 citations Open access
Semantic Scholar
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
M. Wiessner, R. Maroofian, Meng-Yuan Ni, A. Pedroni +102 more
2021Brain : a journal of neurology46 citations Open access
Semantic Scholar
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
L. Caporali, S. Magri, A. Legati, V. Del Dotto +27 more
2020Annals of Neurology46 citations Open access
Semantic Scholar
Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches
C. Wilke, Fani Pujol-Calderón, C. Barro, E. Stransky +9 more
2019Clinical Chemistry and Laboratory Medicine40 citations Open access
Semantic Scholar
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
W. Steyaert, L. Sagath, G. Demidov, V. Yépez +49 more
2025Genome Research34 citations Open access
Semantic Scholar
Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia
Annika Thierfelder, J. Seemann, N. John, F. Harmuth +6 more
2022Movement Disorders34 citations Open access
Semantic Scholar
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations
A. Aartsma-Rus, W. V. van Roon-Mom, M. Lauffer, C. Siezen +5 more
2023RNA: A publication of the RNA Society27 citations Open access
Semantic Scholar
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
A. Traschütz, S. Reich, Astrid D. Adarmes, M. Anheim +31 more
2021Frontiers in Neurology27 citations Open access
Semantic Scholar
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
J. Senderek, P. Laššuthová, D. Kabzińska, Lisa Abreu +53 more
2020Neurology27 citations Open access
Semantic Scholar
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
Tim W. Rattay, M. Rautenberg, Anne S. Söhn, H. Hengel +11 more
2020Scientific Reports27 citations Open access
Semantic Scholar
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Thomas Klockgether, M. Synofzik, Saud Alhusaini, M. Anheim +65 more
2023Cerebellum25 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15
Geert Vander Stichele, A. Durr, G. Yoon, R. Schüle +9 more
2022BMC Neurology24 citations Open access
Semantic Scholar
Assessing non-Mendelian Inheritance in Inherited Axonopathies
Dana M. Bis-Brewer, Z. Gan-or, P. Sleiman, Aixa Rodriguez +62 more
2020Genetics in Medicine24 citations Open access
Semantic Scholar
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
A. Rebelo, Ariel Ruiz, M. Dohrn, Melanie Wayand +15 more
2022Genetics in Medicine23 citations Open access
Semantic Scholar
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
Alisa Mo, Afshin Saffari, Melanie Kellner, M. Döbler-Neumann +14 more
2022Movement Disorders23 citations Open access
Semantic Scholar
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten +30 more
2022Brain : a journal of neurology22 citations Open access
Semantic Scholar
De novo and dominantly inherited SPTAN1 mutations cause Spastic Paraplegia and Cerebellar Ataxia
L. Van de Vondel, J. De Winter, D. Beijer, Giulia Coarelli +34 more
2022Movement Disorders21 citations Open access
Semantic Scholar
UHPLC-ESI-MS/MS assay for quantification of endocannabinoids in cerebrospinal fluid using surrogate calibrant and surrogate matrix approaches.
Ece Aydin, M. Cebo, Justyna Mielnik, Hardy Richter +4 more
2022Journal of Pharmaceutical and Biomedical Analysis19 citations Open access
Semantic Scholar
Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia
M. Regensburger, I. T. Spatz, Malte Ollenschläger, Christine F. Martindale +8 more
2022Neurology19 citations Open access
Semantic Scholar
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Tim W. Rattay, M. Völker, M. Rautenberg, C. Kessler +9 more
2022Brain : a journal of neurology18 citations Open access
Semantic Scholar
Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching
Dominik Hermle, R. Schubert, Pascal Barallon, W. Ilg +4 more
2024Annals of Clinical and Translational Neurology17 citations Open access
Semantic Scholar
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families
Y. Oktay, S. Gungor, L. Zeltner, S. Wiethoff +17 more
2020Journal of Neuromuscular Diseases15 citations Open access
Semantic Scholar
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1
C. Wilke, David Mengel, L. Schöls, H. Hengel +9 more
2022Neurology14 citations Open access
Semantic Scholar
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R. Schüle, D. Timmann, C. Erasmus, Jennifer Reichbauer +11 more
2021European Journal of Human Genetics14 citations Open access
Semantic Scholar
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia
C. Kessler, L. Serna-Higuita, Tim W. Rattay, W. Maetzler +9 more
2021Annals of Clinical and Translational Neurology14 citations Open access
Semantic Scholar
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
D. Beijer, B. Fogel, S. Beltrán, M. Danzi +33 more
2023Cerebellum13 citations Open access
Semantic Scholar
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study
C. Laßmann, W. Ilg, M. Schneider, M. Völker +6 more
2022Movement Disorders13 citations Open access
Semantic Scholar
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4
C. Kessler, L. Serna-Higuita, C. Wilke, Tim W. Rattay +9 more
2022Annals of Clinical and Translational Neurology10 citations Open access
Semantic Scholar
Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation
R. Schüle, H. Graessner, A. Aartsma-Rus, W. V. van Roon-Mom +1 more
2025Molecular Therapy: Nucleic Acids8 citations Open access
Semantic Scholar
Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia
A. Ibrahim, Malte Ollenschläger, S. Klebe, R. Schüle +8 more
2024European Journal of Neurology8 citations Open access
Semantic Scholar
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
Jekaterina Malina, E. Huessler, K. Jöckel, Eva Boog-Whiteside +5 more
2024Orphanet Journal of Rare Diseases8 citations Open access
Semantic Scholar
Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7
L. Beichert, J. Seemann, C. Kessler, A. Traschütz +12 more
2024Neurology8 citations Open access
Semantic Scholar
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
N. Hendrickx, F. Mentré, A. Traschütz, C. Gagnon +3 more
2024AAPS Journal8 citations Open access
Semantic Scholar
Ataxia and spastic paraplegia in mitochondrial disease.
M. Synofzik, E. Rugarli, E. Reid, R. Schüle
2023Handbook of Clinical Neurology8 citations
Semantic Scholar
Sialic Acid Storage Disease
Alexander K. C. Leung, C. P. Kao, Andrew L. Wong, T. Kolter +117 more
2020Definitions8 citations Open access
Semantic Scholar
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, A. Rebelo, Elena Buglo, H. Nemati +38 more
2019American Journal of Human Genetics8 citations Open access
Semantic Scholar

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