Genetics, Muscular dystrophy, Pathology, Congenital muscular dystrophy and Duchenne muscular dystrophy are his primary areas of study. In his research, RYR1, Nemaline myopathy and Genotype is intimately related to Congenital myopathy, which falls under the overarching field of Genetics. Francesco Muntoni interconnects Limb-girdle muscular dystrophy, Dystroglycan, LMNA and Skeletal muscle in the investigation of issues within Muscular dystrophy.
His Pathology research includes themes of Internal medicine, Gene mutation, Compound heterozygosity and Cardiomyopathy. His work deals with themes such as Physical therapy, Eteplirsen, Pediatrics and Bioinformatics, which intersect with Duchenne muscular dystrophy. His Dystrophin study incorporates themes from Molecular biology, Exon skipping and Exon.
His primary areas of study are Duchenne muscular dystrophy, Pathology, Muscular dystrophy, Genetics and Internal medicine. His work is dedicated to discovering how Duchenne muscular dystrophy, Physical therapy are connected with Physical medicine and rehabilitation and other disciplines. In most of his Pathology studies, his work intersects topics such as Anatomy.
His study explores the link between Muscular dystrophy and topics such as Skeletal muscle that cross with problems in Cell biology. His biological study spans a wide range of topics, including Endocrinology and Cardiology. In his research on the topic of Dystrophin, Molecular biology and RNA splicing is strongly related with Exon.
The scientist’s investigation covers issues in Duchenne muscular dystrophy, Internal medicine, Spinal muscular atrophy, Muscular dystrophy and Pediatrics. His work in the fields of Duchenne muscular dystrophy, such as Dystrophin, intersects with other areas such as In patient. His Dystrophin research incorporates themes from Exon skipping, Cell biology and Exon.
Internal medicine is frequently linked to Endocrinology in his study. As a member of one scientific family, Francesco Muntoni mostly works in the field of Spinal muscular atrophy, focusing on Bioinformatics and, on occasion, Myostatin and Disease. Within one scientific family, Francesco Muntoni focuses on topics pertaining to Pathology under Muscular dystrophy, and may sometimes address concerns connected to Sarcolemma.
His scientific interests lie mostly in Duchenne muscular dystrophy, Internal medicine, Dystrophin, Spinal muscular atrophy and Muscular dystrophy. The Duchenne muscular dystrophy study combines topics in areas such as Nonsense mutation, Ambulatory, Clinical trial and Disease progression. His Internal medicine course of study focuses on Endocrinology and Antisense therapy.
While the research belongs to areas of Dystrophin, Francesco Muntoni spends his time largely on the problem of Exon, intersecting his research to questions surrounding RNA splicing. His Spinal muscular atrophy research focuses on Gerontology and how it relates to MEDLINE. In his study, Congenital muscular dystrophy and Myopathy is strongly linked to Genetic heterogeneity, which falls under the umbrella field of Muscular dystrophy.
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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.
Nature Genetics (1999)
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.
The New England Journal of Medicine (1999)
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
Richard S. Finkel;Eugenio Mercuri;Basil T. Darras;Anne M. Connolly.
The New England Journal of Medicine (2017)
Dystrophin and mutations: one gene, several proteins, multiple phenotypes
Francesco Muntoni;Silvia Torelli;Alessandra Ferlini.
Lancet Neurology (2003)
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.
The Lancet (2011)
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.
Lancet Neurology (2009)
Low doses of ethanol activate dopaminergic neurons in the ventral tegmental area.
Gian Luigi Gessa;Francesco Muntoni;Maria Collu;Lidia Vargiu.
Brain Research (1985)
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.
American Journal of Human Genetics (2001)
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.
Human Molecular Genetics (2001)
BRIEF REPORT - DELETION OF THE DYSTROPHIN MUSCLE-PROMOTER REGION ASSOCIATED WITH X-LINKED DILATED CARDIOMYOPATHY
Francesco Muntoni;Milena Cau;Antonello Ganau;Rita Congiu.
The New England Journal of Medicine (1993)
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