F. Muntoni

1.4k citations

55 papers · 1.0k indexed · h-index 17

Impact in

Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders
Cellular and Molecular Neuroscience top 5%
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases

Papers in

Genetics 18
- Neurogenetic and Muscular Disorders Research 18
Clinical Biochemistry 4
- Metabolism and Genetic Disorders 4

Co-authors: Simona Vaccargiu Maria Giovanna Marrosu Carlo Cianchetti Linda M. Banks Nick J. Shaw Nicola Crabtree M S Kibirige C. M. Boivin
Journals: Neuromuscular Disorders (32 papers)Neurology (4 papers)Journal of Inherited Metabolic Disease (3 papers)Neuropediatrics (2 papers)Journal of Neuromuscular Diseases (1 paper)
Partner nations: United Kingdom United States Italy

In The Last Decade

F. Muntoni

51 papers receiving 1000 citations

Peers

Countries citing papers authored by F. Muntoni

Since Specialization

Citations

This map shows the geographic impact of F. Muntoni's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by F. Muntoni with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites F. Muntoni more than expected).

Fields of papers citing papers by F. Muntoni

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by F. Muntoni. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by F. Muntoni. The network helps show where F. Muntoni may publish in the future.

Co-authors

The 25 scholars most cited alongside F. Muntoni, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with F. Muntoni Line = papers co-authored together F. Muntoni links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review Neuromuscular Disorders ·Robert Muni‐Lofra, Giorgia Coratti, Tina Duong, Julita Medina-Cantillo, Matthew Civitello, Anna Mayhew, Richard S. Finkel, Eugenio Mercuri, Chiara Marini‐Bettolo, F. Muntoni	2025	2
2	Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies Neuromuscular Disorders ·Rebecca Finnegan, A. Rohwer, M Scoto, Marion Main, Giovanni Baranello, Adriana Manzur, F. Muntoni, Pinki Munot	2025	0
3	PRO22 A Real World Study Investigating the Resource Use and Burden Associated with Spinal Muscular Atrophy (SMA) from the Perspective of Patients and Carers in the UK Value in Health ·Jennie Rowell, Steve Vincent, S. Saberian, M. Scoto, F. Muntoni	2020	3
4	P.223Respiratory function in SMA type 2 and non-ambulant SMA type 3, longitudinal data from the international SMA consortium (iSMAc) Neuromuscular Disorders ·Federica Trucco, Deborah Ridout, R. Finkel, Eugenio Mercuri, M. Scoto, F. Muntoni	2019	3
5	A Large Deletion Affecting TPM3 , Causing Severe Nemaline Myopathy Journal of Neuromuscular Diseases ·K. Kiiski, Vilma‐Lotta Lehtokari, Adnan Y. Manzur, C. Sewry, Irina Zaharieva, F. Muntoni, Katarina Pelin, Carina Wallgren‐Pettersson	2015	11
6	NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (vol 3, pg 1795, 2013) UCL Discovery (University College London) ·Rds Pitceathly, Shamima Rahman, Yehani Wedatilake, JM Polke, Sebahattin Çirak, Foley Ar, Anna Sailer, ME Hurles, Jim Stalker, I. Hargreaves, CE Woodward, MG Sweeney, F. Muntoni, H. Houlden, Jan‐Willem Taanman, Michael G. Hanna	2013	1
7	G.P.4.06 Daily salbutamol in young patients with SMA type II Neuromuscular Disorders ·Marika Pane, Susanna Staccioli, Sonia Messina, Adele D’Amico, Marco Pelliccioni, Eléonora Mazzone, Marina Cuttini, P Alfieri, Roberta Battini, Mohammad Main, F. Muntoni, Beatrice Berti, Marta Villanova, Eugenio Mercuri	2008	2
8	C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich Neuromuscular Disorders ·Yaqun Zou, Joachim Schessl, Anne Katrin Lampe, Ying Hu, C. Jimenez‐Mallebrera, Gudrun Schreiber, Irene Stolte‐Dijkstra, Annemarie Fock, M. L. Chu, Kate Bushby, Robert B. Weiss, Kevin M. Flanigan, F. Muntoni, Carsten G. Bönnemann	2007	1
9	Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene Neurology ·Paul A. James, M. Zameel Cader, F. Muntoni, Anne Marie Childs, Yanick J. Crow, Kevin Talbot	2006	68
10	Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia Neuromuscular Disorders ·Maria Kinali, Heinz Jungbluth, L. H. Eunson, Caroline A. Sewry, Adnan Y. Manzur, Eugenio Mercuri, Michael G. Hanna, F. Muntoni	2004	43
11	The relationship between lean body mass and bone mineral content in paediatric health and disease Bone ·Nicola Crabtree, M S Kibirige, J N Fordham, Linda M. Banks, F. Muntoni, D. J. Chinn, C. M. Boivin, Nick J. Shaw	2004	156
12	X-inactivation patterns in carriers of X-linked myotubular myopathy Neuromuscular Disorders ·Marianne Kristiansen, Gun Peggy Knudsen, Scott Tanner, Meriel McEntagart, Heinz Jungbluth, F. Muntoni, C. Sewry, Sabina Gallati, K.H. Örstavik, Carina Wallgren‐Pettersson	2003	33
13	Clinical analysis of 32 patients carrying R453W LMNA mutation UCL Discovery (University College London) ·Gisèle Bonne, Rabah Ben Yaou, L. Demay, Pascale Richard, B. Eymard, J. Andoni Urtizberea, D Duboc, F. Muntoni, M Wehnert, D. Toniolo, Luciano Merlini, AJ van der Kooi, M. Visser, Dominique Récan, Kevin J. Schwartz	2002	2
14	Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia Human Genetics ·Mark I. Rees, T. Lewis, Behnaz Vafa, Colin D. Ferrie, Peter Corry, F. Muntoni, Heinz Jungbluth, John B.P. Stephenson, Mike Kerr, Russell G. Snell, Peter R. Schofield, Michael J. Owen	2001	64
15	Actin and nemaline-related myopathy UCL Discovery (University College London) ·Nigel G. Laing, K Knowak, Hayley J. Durling, Kathryn N. North, Ikuya Nonaka, David Hutchinson, Constantin von Kaisenberg, F. Muntoni, Katarina Pelin, Carina Wallgren‐Pettersson	2000	1
16	Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease European Respiratory Journal ·Anita K. Simonds, Sally L. Davidson Ward, S. Heather, Andrew Bush, F. Muntoni	2000	97
17	Blood Loss in Duchenne Muscular Dystrophy Journal of Pediatric Orthopaedics B ·M.H.H. Noordeen, Fares S. Haddad, F. Muntoni, Paola Gobbi, Justine Hollyer, G. Bentley	1999	38
18	Clinical Spectrum and Diagnostic Difficulties of Infantile Ponto-Cerebellar Hypoplasia Type 1 Neuropediatrics ·F. Muntoni, Fiona Goodwin, Caroline A. Sewry, P. Cox, Frances M. Cowan, Eila Airaksinen, Shobna Patel, Jaakko Ignatius, Victor Dubowitz	1999	17
19	A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A Neurology ·Maria Giovanna Marrosu, Simona Vaccargiu, A. Vannelli, Carlo Cianchetti, F. Muntoni	1997	19
20	MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY The American Journal of Human Genetics ·Aspasia Theodosiou, Nanda R. Rodrigues, Kevin Talbot, Louise J. Campbell, M A Nesbit, Nicholas Owen, Helen E. Ambrose, F. Muntoni, Sanket Patel, Jaakko Ignatius, Victor Dubowitz, K.E. Davies	1995	3

About F. Muntoni

F. Muntoni is a scholar working on Genetics, Clinical Biochemistry, Cardiology and Cardiovascular Medicine, Molecular Biology and Developmental Biology, having authored 55 papers that have together received 1.0k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (23 papers), Neurogenetic and Muscular Disorders Research (18 papers), Cardiomyopathy and Myosin Studies (12 papers), RNA Research and Splicing (5 papers), RNA modifications and cancer (5 papers), Mitochondrial Function and Pathology (5 papers), Nuclear Structure and Function (4 papers) and Metabolism and Genetic Disorders (4 papers). The work is most often cited by research in Clinical Biochemistry (125 citations), Cellular and Molecular Neuroscience (283 citations), Genetics (161 citations), Orthopedics and Sports Medicine (92 citations) and Neurology (87 citations). F. Muntoni has collaborated with scholars based in United Kingdom, United States and Italy. Frequent co-authors include Simona Vaccargiu, Maria Giovanna Marrosu, Carlo Cianchetti, Linda M. Banks, Nick J. Shaw, Nicola Crabtree, M S Kibirige, C. M. Boivin, J N Fordham and D. J. Chinn. Their work appears in journals such as Neuromuscular Disorders, Neurology, Journal of Inherited Metabolic Disease, Neuropediatrics and Journal of Neuromuscular Diseases.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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