Francesco Muntoni

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