• KOL
    • Muscular Dystrophy
    • Luciano Merlini
    • Luciano Merlini: Influence Statistics

      Luciano Merlini

      Luciano Merlini

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      Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy;, luciano.merlini@unibo.it, (L.M.); or, dimartino.cbm@gmail.com, (A.D.M.);, ...

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      Luciano Merlini:Expert Impact

      Concepts for whichLuciano Merlinihas direct influence:Muscular dystrophy,Duchenne muscular dystrophy,Bethlem myopathy,Congenital muscular dystrophy,Pompe registry,Muscle strength,Α6 chain,Mitochondrial dysfunction.

      Luciano Merlini:KOL impact

      Concepts related to the work of other authors for whichfor which Luciano Merlini has influence:Muscular dystrophy,Skeletal muscle,Autophagic flux,Cell death,Pompe disease,Oxidative stress,Nuclear envelope.

      KOL Resume for Luciano Merlini

      Year
      2022

      Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy;, (L.M.); or, (A.D.M.);, (C.F.)

      2021

      Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

      2020

      Department of Biomedical and Neuromotor Sciences, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.

      2019

      SC Laboratory of Muscoloskeletal Cell Biology, IOR, Bologna, Italy.

      2017

      Rizzoli Orthopedic Institute, Bologna, Italy

      2016

      SC Laboratory of Musculoskeletal Cell Biology, IOR-IRCCS, Bologna, Italy

      2015

      SC Laboratory of Musculoskeletal Cell Biology, IOR, Bologna, Italy.

      Laboratory of Musculoskeletal Cell Biology, Istituto Ortopedico Rizzoli, IRCCS, Via Di Barbiano 1/10, 40136 Bologna, Italy

      2014

      SC Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute, Bologna, Italy

      2013

      Laboratory of Musculoskeletal Cell Biology, IOR-IRCCS, Bologna, Italy

      2012

      Department of Physical and Rehabilitation Medicine, Rizzoli-Sicily IOR, 90011 Bagheria, Italy

      2011

      Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopaedic Institute, Bologna, Italy

      2010

      Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy and Laboratorio Biologia Cellulare Muscoloscheletrica, IOR, Bologna, Italy

      2009

      Section of Medical Genetics, University of Ferrara, Ferrara and Laboratory of Cell Biology, Istituto Ortopedico Rizzoli, Bologna, Italy,

      Laboratory of Myology, Medical Genetics, University of Ferrara, via Fossato di Mortara 74, 44100 Ferrara, Italy

      IGM‐CNR, Unit of Bologna c/o IOR, Bologna

      Department of Child Neurology and Psychiatry, Catholic University, Rome

      2008

      Laboratory of Myology, Department of Medical Genetics, S. Anna Hospital, University of Ferrara, Via Fossato di Mortara 74, 44100, Ferrara, Italy

      Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita' di Ferrara

      2007

      Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, I-44100 Ferrara, Italy; and

      Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Muscle Unit, Università di Ferrara, Italy

      2006

      From the *Orthopaedic Department, University of Bologna, Istituto Ortopedico Rizzoli, Rizzoli, Italy; and the †Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy.

      Neuromuscular Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy

      2005

      Laboratorio di Miologia, Istituto Ortopedico Rizzoli, Bologna, Italy

      2004

      Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milan, Italy; and Neuromuscular Unit, Istituto Ortopedico Rizzoli, Bologna, Italy

      2003

      Neuromuscular Unit, Rizzoli Institute, Bologna, Italy

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      Sample of concepts for which Luciano Merlini is among the top experts in the world.
      Concept World rank
      sibs ucmd #1
      homozygous mutation sibs #1
      cases stable correction #1
      factual humans muscle #1
      loads fatigue resistance #1
      contractures fingers #1
      arm abduction average #1
      fanfare #1
      neuromuscular disorders under20s #1
      multiple flexion contractures #1
      dystrophy bethlem #1
      myopathic rigid spine #1
      peculiar rim #1
      patients tendon biopsy #1
      col6a1 splicing mutation #1
      emerin nuclear lamina #1
      myopathy bm #1
      modifies emerin localization #1
      diverse chronic myopathies #1
      threepoint pinch scores #1
      4yearold dmd patients #1
      θ015 agreement #1
      myosclerosis myopathy #1
      suspected carriers immunoblot #1
      disease edmd #1
      dxs15114 #1
      leg megascore #1
      arthrodesis scapulopexy #1
      reliability handheld myometry #1
      emerydreifuss muscular distrophy #1
      classical α1α2α3 #1
      detergenttreated myotubes #1
      retrospectively operation #1
      nuclear matrix basis #1
      cytoplasmic actin emerin #1
      dystrophy ucmd #1
      cardiomyopathy occurs #1
      lamin phosphorylation lamin #1
      myopathies collagen #1
      vertebrae contracture diagnosis #1
      early prednisone treatment #1
      normal collagen microfibrils #1
      pdz ldb3 zasp #1
      lamin mature muscle #1
      scoliosis pompe disease #1
      publication adult cytoskeleton #1
      bm spectrum #1
      situ extracted matrix #1
      chains electron muscle #1
      recombination rates edmd #1
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      Prominent publications by Luciano Merlini

      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: 14200

      Pompe disease is a rare, autosomal recessive, progressively debilitating, and often fatal neuromuscular disorder. While scoliosis is common in many other neuromuscular disorders, there is little information on its prevalence and impact in Pompe disease. To further our understanding, we performed a cross-sectional analysis of data from the Pompe Registry, a multinational, long-term observational program that contains the largest collection of data in the world of patients with Pompe ...

      Known for Pompe Disease | Patients Scoliosis | Age Onset | Respiratory Function | Type Humans
      KOL-Index: 13233

      Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of symptoms is presented by two other human diseases, muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD). Although the genes underlying FCMD (Fukutin) and MEB (POMGnT1) have been cloned, loci for WWS have remained elusive. The protein products of POMGnT1 and Fukutin have ...

      Known for Neuronal Migration | Wws Mutations | Gene Pomt1 | Meb Pomgnt1 | Multiple Brain Child
      KOL-Index: 12591

      Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Seip congenital lipodystrophy (BSCL2) and senataxin (SETX). In addition a mutation in the ...

      Known for Hereditary Motor | Mutations Genes | Hspb8 Hspb1 | Autosomal Dominant | Heat Shock
      KOL-Index: 11972

      Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening1. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease2,3,4. Mutations in EMD, the gene encoding emerin, are responsible for the X-linked ...

      Known for Autosomal Dominant | Gene Encoding | Dreifuss Muscular | Mutations Emd | Sequence Homology
      KOL-Index: 11862

      The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS patients are characterized by congenital muscular dystrophy (CMD) with severe brain and eye abnormalities. This suggests a crucial role for alpha-DG during development of these organs and ...

      Known for Pomt1 Mutations | Mental Retardation | Congenital Muscular Dystrophy | Wws Patients | Expanding Phenotype
      KOL-Index: 11712

      Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on chromosome 11q12-q14 in a single large pedigree. We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, seipin) gene causing SPG17 and distal hereditary motor neuropathy type V (distal HMN V). Here ...

      Known for Silver Syndrome | Bscl2 Mutations | Distal Hmn | Motor Neuropathies | Clinical Phenotype
      KOL-Index: 11574

      BACKGROUND: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration, which causes a cobblestone cortex. Ocular abnormalities include cataract, microphthalmia, buphthalmos, and Peters anomaly. WWS patients show ...

      Known for Pomt2 Mutations | Wws Patients | Walkerwarburg Syndrome | Dystroglycan Hypoglycosylation | Neuronal Migration
      KOL-Index: 11304

      Fibronectin is one of the main components of the extracellular matrix and associates with a variety of other matrix molecules including collagens. We demonstrate that the absence of secreted type VI collagen in cultured primary fibroblasts affects the arrangement of fibronectin in the extracellular matrix. We observed a fine network of collagen VI filaments and fibronectin fibrils in the extracellular matrix of normal murine and human fibroblasts. The two microfibrillar systems did not ...

      Known for Extracellular Matrix | Cultured Fibroblasts | Fibronectins Humans | Mice Mice | Collagen Fibronectin
      KOL-Index: 11285

      Lamin A is a nuclear lamina constituent expressed in differentiated cells. Mutations in the LMNA gene cause several diseases, including muscular dystrophy and cardiomyopathy. Among the nuclear envelope partners of lamin A are Sad1 and UNC84 domain-containing protein 1 (SUN1) and Sad1 and UNC84 domain-containing protein 2 (SUN2), which mediate nucleo-cytoskeleton interactions critical to the anchorage of nuclei. In this study, we show that differentiating human myoblasts accumulate ...

      Known for Nuclear Envelope | Skeletal Muscle | Farnesylated Prelamin | Muscular Dystrophy | Nucleus Cells
      KOL-Index: 11193

      Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, symptom onset, degree of organ involvement, and severity. The Pompe Registry represents worldwide ...

      Known for Pompe Registry | Patients Age | Onset Child Child | Muscle Tissue | Broad Spectrum
      KOL-Index: 10955

      BACKGROUND: Mutations in various genes of the neuromuscular junction may cause congenital myasthenic syndromes (CMS). Most mutations identified to date affect the epsilon-subunit gene of the acetylcholine receptor (AChR), leading to end-plate AChR deficiency. Recently, three different mutations in the RAPSN gene have been identified in four CMS patients with AChR deficiency.

      OBJECTIVE: To perform mutation analysis of the RAPSN gene in patients with sporadic or autosomal recessive ...

      Known for Congenital Myasthenic Syndromes | Rapsyn N88k | Cms Patients | Rapsn Gene | Mutation Analysis
      KOL-Index: 10437

      Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs1. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic paraparesis mapped to chromosome 11q12–q14 (SPG17) in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs2,3. Silver ...

      Known for Silver Syndrome | Motor Neuropathy | Distal Hereditary | Missense Mutations | Protein Seipin
      KOL-Index: 10048

      Collagen VI is a major extracellular matrix (ECM) protein with a critical role in maintaining skeletal muscle functional integrity. Mutations in COL6A1, COL6A2 and COL6A3 genes cause Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy, and Myosclerosis. Moreover, Col6a1(-/-) mice and collagen VI deficient zebrafish display a myopathic phenotype. Recently, two additional collagen VI chains were identified in humans, the α5 and α6 chains, however their distribution patterns and ...

      Known for Α6 Chain | Muscular Dystrophy | Muscle Fibrosis | Western Cells | Extracellular Matrix

      Key People For Muscular Dystrophy

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      Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy;, luciano.merlini@unibo.it, (L.M.); or, dimartino.cbm@gmail.com, (A.D.M.);, cesare.faldini@ior.it, (C.F.) | Department of Biomedical and Neuromotor Sciences

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