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V. Chelban · SciRah

Researcher profile · Semantic Scholar

V. Chelban

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V. Chelban — researcher profile on SciRah

h-index: 25
Works: 81
Citations: 2,048

Most-cited papers

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V. Salpietro, C. Dixon, Hui Guo, O. Bello +234 more
2019Nature Communications227 citations Open access
Semantic Scholar
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
E. Kara, A. Tucci, C. Manzoni, David S. Lynch +25 more
2016Brain : a journal of neurology223 citations Open access
Semantic Scholar
A genome-wide association study in multiple system atrophy
A. Sailer, Sonja W. Scholz, M. Nalls, C. Schulte +41 more
2016Neurology140 citations Open access
Semantic Scholar
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
R. Reynolds, J. Botía, M. Nalls, A. Noyce +163 more
2019npj Parkinson's Disease93 citations Open access
Semantic Scholar
Identification of sixteen novel candidate genes for late onset Parkinson’s disease
A. Gialluisi, M. G. Reccia, N. Modugno, T. Nutile +173 more
2021Molecular Neurodegeneration80 citations Open access
Semantic Scholar
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
L. Schottlaender, R. Abeti, Z. Jaunmuktane, C. Macmillan +83 more
2020American Journal of Human Genetics79 citations Open access
Semantic Scholar
Multiple system atrophy
Yee Y. Goh, E. Saunders, Samantha Pavey, Emma Rushton +3 more
1997Practical Neurology76 citations Open access
Semantic Scholar
An update on advances in magnetic resonance imaging of multiple system atrophy
V. Chelban, M. Bocchetta, Sara M Hassanein, Nourelhoda A. Haridy +2 more
2018Journal of Neurology74 citations Open access
Semantic Scholar
Neurofilament light levels predict clinical progression and death in multiple system atrophy
V. Chelban, Elham Nikram, A. Pérez-Soriano, C. Wilke +45 more
2022Brain : a journal of neurology61 citations Open access
Semantic Scholar
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
N. Mencacci, R. Reynolds, Sonia Garcia Ruiz, J. Vandrovcova +45 more
2020Brain : a journal of neurology57 citations Open access
Semantic Scholar
Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes
E. Jabbari, J. Woodside, Tong Guo, Nadia K. Magdalinou +10 more
2019Journal of Neurology Neurosurgery & Psychiatry49 citations Open access
Semantic Scholar
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
V. Chelban, N. Patel, J. Vandrovcova, M. N. Zanetti +12 more
2017American Journal of Human Genetics47 citations Open access
Semantic Scholar
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing
D. Pérez-Rodríguez, M. Kalyva, M. Leija-Salazar, T. Lashley +12 more
2019Acta Neuropathologica Communications43 citations Open access
Semantic Scholar
RFC1-related ataxia is a mimic of early multiple system atrophy
R. Sullivan, Wai Y. Yau, V. Chelban, Salvatore Rossi +6 more
2021Journal of Neurology Neurosurgery & Psychiatry41 citations Open access
Semantic Scholar
Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials
D. Street, E. Jabbari, Alyssa A. Costantini, P. S. Jones +29 more
2023Brain : a journal of neurology38 citations Open access
Semantic Scholar
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
Marc Vila Cuenca, G. Marchi, Anna Barqué, Clara Esteban-Jurado +25 more
2020International Journal of Molecular Sciences38 citations Open access
Semantic Scholar
Genome-sequence analyses identify novel risk loci for multiple system atrophy
Ruth Chia, Anindita Ray, Zalak Shah, Jinhui Ding +102 more
2024Neuron37 citations Open access
Semantic Scholar
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
V. Chelban, Henriette Aksnes, R. Maroofian, Lauren C. LaMonica +55 more
2024Nature Communications37 citations Open access
Semantic Scholar
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
V. Chelban, S. Wiethoff, B. Fabian-Jessing, Nourelhoda A. Haridy +15 more
2018Movement Disorders36 citations Open access
Semantic Scholar
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy
R. Sullivan, Wai Y. Yau, V. Chelban, Salvatore Rossi +4 more
2020Movement Disorders32 citations
Semantic Scholar
An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention
V. Chelban, Daniela Catereniuc, Daniela Aftene, Alexandru Gasnaș +4 more
2020Journal of Neurology30 citations Open access
Semantic Scholar
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
V. Chelban, A. Tucci, David S. Lynch, J. Polke +5 more
2017Journal of Neurology Neurosurgery & Psychiatry29 citations Open access
Semantic Scholar
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders
Wai Y. Yau, J. Vandrovcova, R. Sullivan, Zhong-Bo Chen +12 more
2020Movement Disorders28 citations Open access
Semantic Scholar
Combining biomarkers for prognostic modelling of Parkinson’s disease
N. Vijiaratnam, Michael A. Lawton, A. Heslegrave, Tong Guo +18 more
2022Journal of Neurology Neurosurgery & Psychiatry25 citations Open access
Semantic Scholar
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
V. Chelban, M. Breza, Maria Szaruga, J. Vandrovcova +20 more
2021Alzheimer's & Dementia25 citations Open access
Semantic Scholar
Autonomic dysfunction in genetic forms of synucleinopathies
V. Chelban, E. Vichayanrat, Lucia Schottlaende, V. Iodice +1 more
2018Movement Disorders25 citations Open access
Semantic Scholar
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
E. O’Connor, J. Vandrovcova, E. Bugiardini, V. Chelban +13 more
2018Journal of Neurology Neurosurgery & Psychiatry25 citations Open access
Semantic Scholar
Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes
M. Bocchetta, J. Iglesias, V. Chelban, E. Jabbari +11 more
2019Journal of Movement Disorders24 citations Open access
Semantic Scholar
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination
V. Chelban, M. Alsagob, K. Kloth, A. Chiriță-Emandi +34 more
2019European Journal of Neurology23 citations Open access
Semantic Scholar
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
D. Pellerin, Jean-Loup Méreaux, Susana Boluda, M. Danzi +33 more
2024Brain : a journal of neurology22 citations Open access
Semantic Scholar
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
V. Chelban, M. Carecchio, Gillian Rea, A. Bowirrat +22 more
2020Neurology: Genetics20 citations Open access
Semantic Scholar
Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
O. Poole, C. Pizzamiglio, D. Murphy, M. Falabella +31 more
2021Annals of Neurology18 citations Open access
Semantic Scholar
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, C. Rocca, Y. Sahin +163 more
2022Genetics in Medicine17 citations Open access
Semantic Scholar
Severe axonal neuropathy is a late manifestation of SPG11
A. Manole, V. Chelban, Nourelhoda A. Haridy, Sherif Hamed +3 more
2016Journal of Neurology17 citations Open access
Semantic Scholar
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder
M. Pauly, N. Bruggemann, S. Efthymiou, Anne Grözinger +8 more
2023International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
C. Bettencourt, V. Salpietro, S. Efthymiou, V. Chelban +10 more
2017Orphanet Journal of Rare Diseases16 citations Open access
Semantic Scholar
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
N. Keller, Natalia Mendoza-Ferreira, R. Maroofian, V. Chelban +9 more
2020Neuromuscular Disorders15 citations Open access
Semantic Scholar
LRP10 in α-synucleinopathies.
D. Kia, M. Sabir, Sarah Ahmed, J. Trinh +141 more
2018Lancet Neurology15 citations Open access
Semantic Scholar
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease
M. Breza, Jennifer Hirst, V. Chelban, G. Banneau +32 more
2021Movement Disorders14 citations Open access
Semantic Scholar
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
David S. Lynch, V. Chelban, J. Vandrovcova, A. Pittman +2 more
2018Annals of Clinical and Translational Neurology13 citations Open access
Semantic Scholar
Lysosomal storage disorder gene variants in multiple system atrophy.
L. Pihlstrøm, L. Schottlaender, V. Chelban, W. Meissner +3 more
2018Brain : a journal of neurology12 citations Open access
Semantic Scholar
Mitochondrial DNA analysis from exome sequencing data improves the diagnostic yield in neurological diseases
O. Poole, C. Pizzamiglio, D. Murphy, M. Falabella +22 more
20219 citations
Semantic Scholar
A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres
Q. Gang, C. Bettencourt, J. Holton, Christopher Lovejoy +6 more
2020Journal of Neurology9 citations Open access
Semantic Scholar
LRP10 in α-synucleinopathies.
L. Pihlstrøm, L. Schottlaender, V. Chelban, H. Houlden +27 more
2018Lancet Neurology9 citations Open access
Semantic Scholar
Exenatide Once Weekly in the Treatment of Patients with Multiple System Atrophy
N. Vijiaratnam, C. Girges, Martin Wiegand, Claudia Ismail +26 more
2025Annals of Neurology8 citations Open access
Semantic Scholar
Phenotypic continuum of NFU1 ‐related disorders
R. Kaiyrzhanov, M. Zaki, Tracy Lau, Sambuddha Sen +42 more
2022Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Vincenzo Salpietro, R. Maroofian, M. Zaki, J. Wangen +187 more
2023American Journal of Human Genetics7 citations Open access
Semantic Scholar
Diagnosing Premotor Multiple System Atrophy
E. Vichayanrat, Fernanda Valério, S. Koay, E. de Pablo-Fernández +12 more
2022Neurology7 citations Open access
Semantic Scholar
Analysis of the prion protein gene in multiple system atrophy
V. Chelban, A. Manole, L. Pihlstrøm, L. Schottlaender +5 more
2017Neurobiology of Aging7 citations Open access
Semantic Scholar
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy
V. Chelban, D. Pellerin, N. Vijiaratnam, Hamin Lee +49 more
2025Brain : a journal of neurology6 citations Open access
Semantic Scholar

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