B. P. van de Warrenburg

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Aliases
B P C Van De Warrenburg, Bart Van De Warrenburg, Bart P.c. Van De Warrenburg, Bart P C Van De Warrenburg, Bart P. C. Van De Warrenburg, Bart P. Van De Warrenburg, Bart P Van De Warrenburg
Publication record
96 papers · 3,433 citations · H-index 28

PAPERS

Delayed Progression of Ataxia with a Static Cerebellar Lesion– Consider SCA27B
20251 citationsauthor #5
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
20258 citationsauthor #11
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
20252 citationsauthor #26
An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study
20250 citationsauthor #10
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
202527 citationsauthor #79
Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis
20251 citationsauthor #16
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
20242 citationsauthor #10
Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects
20240 citationsauthor #18
The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
20246 citationsauthor #21
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder
20242 citationsauthor #11
The FGF14 gene is a milestone in ataxia genetics
20246 citationsauthor #1
MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
20245 citationsauthor #11
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
20243 citationsauthor #14
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
20247 citationsauthor #10
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
20246 citationsauthor #56
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
20248 citationsauthor #30
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
20243 citationsauthor #11
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
20241 citationsauthor #18
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
202322 citationsauthor #21
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
20231 citationsauthor #14
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
202310 citationsauthor #13
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
202312 citationsauthor #20
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
20234 citationsauthor #39
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
202311 citationsauthor #24
Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors
20230 citationsauthor #9
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia
20234 citationsauthor #18
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
202323 citationsauthor #11
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
202313 citationsauthor #7
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
202327 citationsauthor #68
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
202318 citationsauthor #45
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
202330 citationsauthor #21
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
202319 citationsauthor #69
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3
202220 citationsauthor #23
Genotype–Phenotype Correlations for ATX‐TBP (SCA17): MDSGene Systematic Review
202213 citationsauthor #10
The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
202218 citationsauthor #9
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
20221 citationsauthor #17
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
202223 citationsauthor #13
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
202218 citationsauthor #37
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity
202111 citationsauthor #9
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
20211 citationsauthor #142
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
202180 citationsauthor #49
The complexities of CACNA1A in clinical neurogenetics
202133 citationsauthor #7
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
20210 citationsauthor #35
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
20210 citationsauthor #30
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3
202148 citationsauthor #9
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
202141 citationsauthor #27
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
20210 citationsauthor #49
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
20212 citationsauthor #27
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
2021127 citationsauthor #20
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
202125 citationsauthor #29
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
202160 citationsauthor #142
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
20211 citationsauthor #6
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
202125 citationsauthor #13
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
202111 citationsauthor #30
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
202111 citationsauthor #35
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
20202 citationsauthor #5
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
20207 citationsauthor #11
Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.
202011 citationsauthor #6
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
202013 citationsauthor #13
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
202033 citationsauthor #7
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
202014 citationsauthor #7
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
202082 citationsauthor #7
Neurofilaments as blood biomarkers at the preataxic and ataxic stage of spinocerebellar ataxia type 3: a cross-species analysis in humans and mice
20194 citationsauthor #7
Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia
201915 citationsauthor #27
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
201923 citationsauthor #5
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
201926 citationsauthor #11
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
201969 citationsauthor #23
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
201945 citationsauthor #3
De novo SPAST mutations may cause a complex SPG4 phenotype.
201925 citationsauthor #12
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
2018143 citationsauthor #18
CAPN1: novel mutations expanding the phenotype of hereditary spastic paraparesis. (P6.039)
20182 citationsauthor #4
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia
201824 citationsauthor #11
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
201723 citationsauthor #24
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
20174 citationsauthor #3
Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders
20177 citationsauthor #1
A recessive ataxia diagnosis algorithm for the next generation sequencing era
201734 citationsauthor #6
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression
201728 citationsauthor #23
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial
201720 citationsauthor #15
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders
2016106 citationsauthor #1
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
201637 citationsauthor #5
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
20150 citationsauthor #6
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
2015132 citationsauthor #8
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
201561 citationsauthor #5
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
2014105 citationsauthor #17
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
2014158 citationsauthor #11
A novel KCNA1 mutation causing episodic ataxia type I
201414 citationsauthor #4
Effects of acetyl-dl-leucine in patients with cerebellar ataxia: a case series
201399 citationsauthor #6
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
2013157 citationsauthor #13
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
2012164 citationsauthor #21
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
201274 citationsauthor #4
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
2010140 citationsauthor #21
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
2008153 citationsauthor #18
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008177 citationsauthor #24
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings
2008223 citationsauthor #15
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort
2005114 citationsauthor #1
Myelopathy due to spinal epidural abscess without cord compression: a diagnostic pitfall.
200420 citationsauthor #1

TIMELINE

2004 20 citations

2005 114 citations

2008 553 citations

2010 140 citations

2012 238 citations

2013 256 citations

2014 277 citations

2015 193 citations

2016 143 citations

2017 116 citations

2018 169 citations

2019 207 citations

2020 162 citations

2021 465 citations

2022 93 citations

2023 194 citations

2024 49 citations

2025 39 citations

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