Francesco Muntoni

Francesco Muntoni publication distribution in Medicine in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Medicine in 2026. The highlighted bar marks where Francesco Muntoni sits on this spectrum.

Francesco Muntoni D-index placement in Medicine in 2026

The chart shows the D-index (discipline H-index) distribution of Medicine scientists ranked by Research.com in 2026. The highlighted bar marks where Francesco Muntoni sits on this spectrum.

Research.com Recognitions

• 2025 - Research.com Medicine in United Kingdom Leader Award

Overview

Best Publications

• Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

  Richard S. Finkel;Eugenio Mercuri;Basil T. Darras;Anne M. Connolly

  2302
  Citations

• Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

  Gisèle Bonne;M R Di Barletta;S Varnous;H M Bécane

  1627
  Citations

• Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

  Diane Fatkin;Calum MacRae;Takeshi Sasaki;Matthew R. Wolff

  1532
  Citations

• Dystrophin and mutations: one gene, several proteins, multiple phenotypes

  Francesco Muntoni;Silvia Torelli;Alessandra Ferlini

  1347
  Citations

• Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

  Sebahattin Cirak;Virginia Arechavala-Gomeza;Michela Guglieri;Lucy Feng

  1228
  Citations

• Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

  Maria Kinali;Maria Kinali;Virginia Arechavala-Gomeza;Lucy Feng;Sebahattin Cirak

  952
  Citations

• Low doses of ethanol activate dopaminergic neurons in the ventral tegmental area.

  Gian Luigi Gessa;Francesco Muntoni;Maria Collu;Lidia Vargiu

  930
  Citations

• Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

  Eugenio Mercuri;Richard S Finkel;Francesco Muntoni;Brunhilde Wirth

  884
  Citations

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

  Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

  674
  Citations

• Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

  Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown

  674
  Citations

• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

  Richard S. Finkel;Eugenio Mercuri;Oscar H. Meyer;Anita K. Simonds

  589
  Citations

• Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

  Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown

  580
  Citations

• Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

  Bonne G;Mercuri E;Muchir A;Urtizberea A

  570
  Citations

• BRIEF REPORT - DELETION OF THE DYSTROPHIN MUSCLE-PROMOTER REGION ASSOCIATED WITH X-LINKED DILATED CARDIOMYOPATHY

  Francesco Muntoni;Milena Cau;Antonello Ganau;Rita Congiu

  561
  Citations

• Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

  Matthew R G Taylor;Pamela R Fain;Pamela R Fain;Gianfranco Sinagra;Misi L Robinson

  540
  Citations

• Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

  E. Nelis;C. van Broeckhoven;E.C.M. Mariman;A.A.W.M. Gabreëls-Festen

  515
  Citations

• Lack of myostatin results in excessive muscle growth but impaired force generation

  Helge Amthor;Raymond Macharia;Roberto Navarrete;Markus Schuelke

  503
  Citations

• Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy

  A K Simonds;F Muntoni;S Heather;S Fielding

  491
  Citations

• Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

  Cheryl Longman;Martin Brockington;Silvia Torelli;Cecilia Jimenez-Mallebrera

  490
  Citations

• The UK10K project identifies rare variants in health and disease

  Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  453
  Citations