Susana Quijano‐Roy

Also affiliated with Université de Versailles Saint-Quentin-en-Yvelines, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologie appliquées, Hôpital Raymond-Poincaré

MedicineBiochemistry, Genetics and Molecular Biology

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 8 papers. Top paper: “Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy”.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature Communications(2022)10.1038/s41467-022-30015-1

N/A

0.571DataRank · unranked

44 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin +53 more

International retrospective natural history study of LMNA-related congenital muscular dystrophy

Brain Communications(2021)10.1093/braincomms/fcab075

N/A

0.538DataRank · unranked

35 citations

Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong +39 more

253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands

Neuromuscular Disorders(2023)10.1016/j.nmd.2023.04.009

N/A

0.241DataRank · unranked

4 citations

Susana Quijano‐Roy, C. Bönnemann, Gisèle Bonne, Lorenzo Maggi

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51889

N/A

0DataRank · unranked

39 citations

Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni +9 more

Life-Saving Treatments for Spinal Muscular Atrophy

Neurology Clinical Practice(2023)10.1212/cpj.0000000000200224

N/A

0DataRank · unranked

18 citations

Basil T. Darras, Ahmad Abulaban, Ali Alshehri, Nina Barišić, Tawfeg Ben‐Omran +22 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

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

medRxiv(2021)10.1101/2021.04.08.21254942

N/A

0DataRank · unranked

2 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin J. O’Donovan, Maura Coughlin +53 more

International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

HAL (Le Centre pour la Communication Scientifique Directe)(2021)10.1093/braincomms/fcab075/6220465

N/A

0DataRank · unranked

0 citations

Pomi Yun, Adele D’Amico, Muntoni Francesco, C. Bönnemann, Ivana Dabaj +40 more