Francesco Muntoni

Also affiliated with National Institute for Health and Care Research, University College London

Biochemistry, Genetics and Molecular BiologyMedicine

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 1%percentile

4.8Author 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 29 papers — median percentile 87. Top paper: “Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study”.

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

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51218

Top 20%

1.0DataRank

Top 20%27 citations

Anna Sárközy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty +14 more

Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial

PLoS ONE(2022)10.1371/journal.pone.0272858

N/A

0.473DataRank · unranked

12 citations

Michela Guglieri, Jean K. Mah, Kathryn R. Wagner, John F. Brandsema, Russell J. Butterfield +7 more

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

Molecular Therapy — Nucleic Acids(2020)10.1016/j.omtn.2020.05.029

N/A

0DataRank · unranked

37 citations

Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni +2 more

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

UNC Libraries(2020)10.17615/hrbk-2487

N/A

0DataRank · unranked

4 citations

Michael Rose, Farshid Ghassemi, Susan Treves, Stefan Buk, Caroline A. Sewry +15 more

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity

UNC Libraries(2020)10.17615/tf8s-a256

N/A

0DataRank · unranked

0 citations

Mirko Vukcevic, Gerhard Meissner, Farshid Ghassemi, Francesco Zorzato, Heinz Jungbluth +4 more

Making sense of missense variants in TTN-related congenital myopathies

Acta Neuropathologica(2021)10.1007/s00401-020-02257-0

N/A

0DataRank · unranked

67 citations

Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige +40 more

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

Brain Communications(2021)10.1093/braincomms/fcab075

N/A

0DataRank · unranked

35 citations

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

Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

SSRN Electronic Journal(2021)10.2139/ssrn.3801723

N/A

0DataRank · unranked

2 citations

Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese +60 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

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA Neurology(2022)10.1001/jamaneurol.2022.0067

N/A

0DataRank · unranked

39 citations

John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik +12 more

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

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

N/A

0DataRank · unranked

44 citations

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

DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy

Neurology(2023)10.1212/wnl.0000000000201626

N/A

0DataRank · unranked

38 citations

James Signorovitch, Gautam Sajeev, H. Clifford Lane, Madeline Jenkins, Ibrahima Dieye +15 more

Human skeletal myopathy myosin mutations disrupt myosin head sequestration

JCI Insight(2023)10.1172/jci.insight.172322

N/A

0DataRank · unranked

15 citations

Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico +14 more

Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years

Journal of the Peripheral Nervous System(2023)10.1111/jns.12557

N/A

0DataRank · unranked

5 citations

Richard S. Finkel, Carly E. Siskind, Shawna Feely, Joshua Burns, Mary M. Reilly +6 more

P148 Analysis of upper limb functional outcomes in a single centre paediatric cohort of non-ambulatory patients with Duchenne muscular dystrophy

Neuromuscular Disorders(2023)10.1016/j.nmd.2023.07.083

N/A

0DataRank · unranked

0 citations

Deborah Ridout, V. Crook, S. Robb, Alberto A. Zambon, Rosaline C. M. Quinlivan +5 more

Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing

Molecular Therapy — Nucleic Acids(2024)10.1016/j.omtn.2024.102237

N/A

0DataRank · unranked

18 citations

Shuzhi Cheng, Pierpaolo Ala, Sean Briggs, Francesco Muntoni, Haiyan Zhou +1 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

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Journal of Clinical Investigation(2024)10.1172/jci179559

N/A

0DataRank · unranked

19 citations

Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot +20 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

Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study

PLoS ONE(2024)10.1371/journal.pone.0304984

N/A

0DataRank · unranked

12 citations

James Signorovitch, Gautam Sajeev, Nicolae Done, Zhiwen Yao, Nathalie Goemans +17 more

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Brain(2020)10.1093/brain/awaa323

N/A

0DataRank · unranked

92 citations

Shawna Feely, James M. Polke, Mariola Skorupinska, Laura Pérez, Rosemary Shy +55 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

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Neurology(2020)10.1212/wnl.0000000000009035

N/A

0DataRank · unranked

53 citations

Stefan Sillau, Gyula Acsádi, Chelsea Bacon, Kimberly Dooley, Joshua Burns +32 more

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

European Journal of Human Genetics(2020)10.1038/s41431-019-0563-6

N/A

0DataRank · unranked

41 citations

Pietro Spitali, Irina Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch +19 more

Francesco Muntoni

Indexed papers

Top data-sharing exemplar

Papers