Antonella Pini

Istituto delle Scienze Neurologiche di Bologna

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “Genetic modifiers of respiratory function in Duchenne muscular dystrophy”.

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

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 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

Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1

Developmental Medicine & Child Neurology(2024)10.1111/dmcn.16079

N/A

0DataRank · unranked

8 citations

Emilio Albamonte, Marika Pane, Federica Ricci, Adele D’Amico, Guja Astrea +8 more

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5

N/A

0DataRank · unranked

10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 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