Enrico Bertini

MedicineBiochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 2%percentile

3.8Author DataRank

Indexed papers

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

Neurology(2020)10.1212/wnl.0000000000011051

Top 10%

2.2DataRank

Top 10%82 citations

Deborah Ridout, Mariacristina Scoto, Giorgia Coratti, Marion Main, R. Muni Lofra +25 more

Papers

Driven by 30 papers — median percentile 89. Top paper: “Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family”.

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

Journal of the Neurological Sciences(1993)10.1016/0022-510x(93)90071-6

N/A

2.8DataRank · unranked

25 citations

Gabriella Silvestri, Serenella Servidei, Enzo Ricci, Massimiliano Mirabella, Enrico Bertini +4 more

Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

Neurology(2020)10.1212/wnl.0000000000011051

Top 10%

2.2DataRank

Top 10%82 citations

Deborah Ridout, Mariacristina Scoto, Giorgia Coratti, Marion Main, R. Muni Lofra +25 more

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

Journal of Comparative Effectiveness Research(2020)10.2217/cer-2020-0095

Top 13%

1.6DataRank

Top 13%63 citations

Richard J. Barohn, Enrico Bertini, B. Chabrol, Giacomo P. Comi, Basil T. Darras +32 more

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Neurology(2023)10.1212/wnl.0000000000207402

N/A

1.5DataRank · unranked

72 citations

Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk +59 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

Therapy Trial Design in Vanishing White Matter

Neurology Genetics(2022)10.1212/nxg.0000000000000657

N/A

0DataRank · unranked

32 citations

Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh‐Mann, Enrico Bertini +10 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Annals of Neurology(2022)10.1002/ana.26359

N/A

0DataRank · unranked

16 citations

Vanesa Lerma, Christina L. Magyar, Jessica M. Pfliger, Aarushi Nayak, Nathan D. Bliss +10 more

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

Journal of Neurology(2022)10.1007/s00415-022-11133-8

N/A

0DataRank · unranked

7 citations

Aurora Fusto, Sara Vianello, Matteo Villa, J.A. Janik, Grazia D’Angelo +28 more

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Neurology and Therapy(2023)10.1007/s40120-023-00444-1

N/A

0DataRank · unranked

54 citations

Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner +93 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications(2023)10.1038/s41467-023-39040-0

N/A

0DataRank · unranked

24 citations

Stefanie Eggers, Ben Rollo, Katherine R. Smith, N. Davidson, Nicole A. Siddall +38 more

HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle‐resident mesenchymal cells

EMBO Reports(2020)10.15252/embr.202050863

N/A

0DataRank · unranked

97 citations

Silvia Consalvi, Luca Tucciarone, Marco De Bardi, Manuel Scimeca, Daniela F. Angelini +10 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Titin copy number variations associated with dominant inherited phenotypes

Journal of Medical Genetics(2023)10.1136/jmg-2023-109473

N/A

0DataRank · unranked

4 citations

Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson +28 more

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51884

N/A

0DataRank · unranked

0 citations

Vincent J. Carson, Emilienne Bolettieri, Mariah E. Everett, Ashton Bollinger, Lauren E. Bowser +13 more

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0DataRank · unranked

24 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3

Neurology Clinical Practice(2024)10.1212/cpj.0000000000200298

N/A

0DataRank · unranked

14 citations

Deborah Ridout, Harriet Weststrate, Mariacristina Scoto, Annemarie Rohwer, Giorgia Coratti +32 more

Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

Journal of Neuromuscular Diseases(2024)10.3233/jnd-230211

N/A

0DataRank · unranked

13 citations

Georgia Stimpson, Danielle Ramsey, Giorgia Coratti, Sally Dunaway Young, Anna Mayhew +29 more

The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy

Journal of Neuromuscular Diseases(2024)10.3233/jnd-230129

N/A

0DataRank · unranked

4 citations

Daniele Sabbatini, Aurora Fusto, Domenico Gorgoglione, Giovanni Umberto Borin, Martina Penzo +34 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109048

N/A

0DataRank · unranked

9 citations

Brittany A. Charsar, Eline M. Hamilton, Jacqueline Erler, Virali Patel, Sarah Woidill +38 more

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.07.011

N/A

0DataRank · unranked

1 citations

Davide Politano, Laura Adang, Elena Ballante, Roberta Battini, Enrico Bertini +20 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more

Nusinersen rescues taurine deficiency in severe Spinal Muscular Atrophy

Research Square(2025)10.21203/rs.3.rs-6566128/v1

N/A

0DataRank · unranked

0 citations

Raffaella di Vito, Amber Hassan, Tommaso Nuzzo, Anna Caretto, Chiara Panicucci +8 more

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients

Communications Medicine(2023)10.1038/s43856-023-00256-2

N/A

0DataRank · unranked

29 citations

Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta +9 more

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients

Annals of Neurology(2020)10.1002/ana.25751

N/A

0DataRank · unranked

77 citations

Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich +37 more

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51046

N/A

0DataRank · unranked

45 citations

Maria Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo +36 more

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

medRxiv(2020)10.1101/2020.12.07.20238691

N/A

0DataRank · unranked

1 citations

Aarushi Nayak, Nathan D. Bliss, Vanesa Lerma, Ashley W. LeMaire, Vinodh Narayanan +8 more

Enrico Bertini

Indexed papers

Top data-sharing exemplar

Papers