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    • Muscular Dystrophy
    • Francesco Francesco
    • Francesco Francesco: Influence Statistics

      Francesco Francesco

      Francesco Francesco

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      Great Ormond Street Hospital Children's Charity, London, United Kingdom | Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great ...

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      Francesco Francesco:Expert Impact

      Concepts for whichFrancesco Francescohas direct influence:Muscular dystrophy,Duchenne muscular dystrophy,Skeletal muscle,Muscular dystrophies,Spinal muscular atrophy,Duchenne muscular,Congenital muscular dystrophy,Muscular atrophy.

      Francesco Francesco:KOL impact

      Concepts related to the work of other authors for whichfor which Francesco Francesco has influence:Muscular dystrophy,Skeletal muscle,Mdx mice,Dilated cardiomyopathy,Multiple sclerosis,Gene expression,Heart failure.

      KOL Resume for Francesco Francesco

      Year
      2022

      Great Ormond Street Hospital Children's Charity, London, United Kingdom

      Department of Developmental Neuroscience, University College London, London, UK

      2021

      UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK

      University College London, Great Ormond Street Institute of Child Health, London, United Kingdom

      Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy

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      Sample of concepts for which Francesco Francesco is among the top experts in the world.
      Concept World rank
      subgroups exons #1
      bmd ucmd #1
      fibre type disproportion #1
      molecular functionality dystrophin #1
      cmd fkrp #1
      24 months type #1
      12 concordance #1
      avi4658 edb muscle #1
      cmd syndrome #1
      bulbar function sma1 #1
      27 patients mutations #1
      lysosomal storage myopathy #1
      ±791 #1
      lama2‐related muscular dystrophy #1
      naarden #1
      ephedrine children #1
      dmd boys dp140 #1
      patients residual merosin #1
      spinal netherlands #1
      lmna sequence analysis #1
      evidence golodirsen #1
      trajectories ambulatory function #1
      multiminicore #1
      dystroglycanopathy mice #1
      pyridostigimine #1
      antibody fibres #1
      exon 51 #1
      gmppb mobility shift #1
      onasemnogene abeparvovec dna #1
      reading frame dmd #1
      cmt2a cmtx1 #1
      bmd exon #1
      dystrophin dystrophin proteins #1
      linked dilated #1
      lacking muscle #1
      2001–2008 #1
      isoform heart #1
      ataluren nmdmd #1
      defective glycosylation #1
      cmd mri #1
      duchenne muscular dystrophy #1
      muscle regeneration fldys #1
      ambulant #1
      rimeporide #1
      rwd nhd sources #1
      early rigidity #1
      c4399cg #1
      reduced glycosylation dg #1
      imaging muscle #1
      function define endpoints #1
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      Prominent publications by Francesco Francesco

      KOL-Index: 17576

      IMPORTANCE: In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for ...

      Known for Patients Exon | Dmd Frame | Duchenne Oligonucleotides | Bmd Muscular Dystrophy | Dystrophin Protein Expression
      KOL-Index: 15972

      Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of clinical severity. Reported phenotypes range from severe congenital onset Walker-Warburg syndrome (WWS) with severe structural brain and eye involvement, to relatively mild adult onset limb girdle muscular dystrophy (LGMD). Specific clinical syndromes were originally ...

      Known for Patients Mutations | Muscular Dystrophies | Defective Glycosylation | Pomt1 Pomt2 | Phenotype Correlations
      KOL-Index: 15840

      BACKGROUND: Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss ...

      Known for Missense Mutations | Rod Domain | Dilated Cardiomyopathy | Lamin Gene | Cardiac Conduction
      KOL-Index: 15620

      BACKGROUND: Mutations that disrupt the open reading frame and prevent full translation of DMD, the gene that encodes dystrophin, underlie the fatal X-linked disease Duchenne muscular dystrophy. Oligonucleotides targeted to splicing elements (splice switching oligonucleotides) in DMD pre-mRNA can lead to exon skipping, restoration of the open reading frame, and the production of functional dystrophin in vitro and in vivo, which could benefit patients with this disorder.

      METHODS: We did a ...

      Known for Dystrophin Expression | Muscular Dystrophy | Patients Dmd | Reading Frame | Duchenne Oligonucleotides
      KOL-Index: 15204

      Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 ...

      Known for Lmna Mutations | Autosomal Dominant | Muscular Dystrophy | Cardiac Involvement | Muscle Weakness
      KOL-Index: 14785

      BACKGROUND: Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. We investigated the safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 SMA.

      METHODS: This randomised, double-blind, placebo-controlled, phase 2 study was done in 22 neuromuscular care centres in Belgium, France, Germany, Italy, Netherlands, Poland, and the UK. Safety and ...

      Known for Olesoxime Patients | Type 2 | Spinal Muscular | 3 Sma | Motor Function
      KOL-Index: 14473

      The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes. Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin alpha2 chain of merosin (laminin-2) due to mutations in the LAMA2 gene. In ...

      Known for Laminin Alpha2 | Abnormal Glycosylation | Protein Gene | Congenital Muscular | Preschool Chromosomes
      KOL-Index: 14344

      BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD.

      METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 ...

      Known for Nonsense Mutation | Ataluren Patients | Duchenne Muscular Dystrophy | Primary Endpoint | Baseline Week
      KOL-Index: 14028

      Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one ...

      Known for Muscular Atrophy | Mutations Bicd2 | Lower Motor | Clinical Phenotype | Aged Muscle
      KOL-Index: 13812

      BACKGROUND: Congenital muscular dystrophies (CMD) are autosomal recessive disorders that present within the first 6 months of life with hypotonia and a dystrophic muscle biopsy. CNS involvement is present in some forms. The fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C) and a milder limb girdle dystrophy (LGMD2I). Both forms have secondary deficiencies of laminin alpha2 and alpha-dystroglycan immunostaining. Structural brain involvement has not been ...

      Known for Fkrp Gene | Mental Retardation | Cerebellar Cysts | Congenital Muscular Dystrophy | Muscle Involvement
      KOL-Index: 13453

      The aim of this study was to evaluate the spectrum of muscle involvement on Magnetic Resonance Imaging (MRI) in patients with collagen VI related disorders. Nineteen patients with genetically confirmed collagen VI related disorders, 10 with Bethlem myopathy and 9 with Ullrich congenital muscular dystrophy (CMD), had muscle MRI of their legs using T1 sequences through calves and thighs. In patients with Bethlem myopathy the vasti muscles appeared to be the most frequently and most ...

      Known for Muscle Mri | Bethlem Myopathy | Congenital Muscular Dystrophy | Ullrich Cmd | Abnormal Signal
      KOL-Index: 13214

      Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we identified recessive mutations in seven cases from five kinships defined as ...

      Known for Congenital Myasthenic | Gmppb Mutations | Neuromuscular Junction | Inherited Disorders | Muscle Biopsies
      KOL-Index: 13009

      Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. More recently, using classical positional cloning, we have identified mutations in a previously unrecognised ...

      Known for Tubular Aggregates | Congenital Myasthenic Syndrome | Gfpt1 Mutations | Cms Patients | Neuromuscular Junction

      Key People For Muscular Dystrophy

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      #1
      Eric P Hoffman
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      Great Ormond Street Hospital Children's Charity, London, United Kingdom | Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Orm

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