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  1. Analyzed Page
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We began analyzing https://link.springer.com/article/10.1007/s10048-015-0465-x, but it redirected us to https://link.springer.com/article/10.1007/s10048-015-0465-x. The analysis below is for the second page.

Title[redir]:
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations | Neurogenetics
Description:
Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.

Matching Content Categories {📚}

  • Education
  • Science
  • Telecommunications

Content Management System {📝}

What CMS is doi.org built with?

Custom-built

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Traffic Estimate {📈}

What is the average monthly size of doi.org audience?

🏙️ Massive Traffic: 50M - 100M visitors per month


Based on our best estimate, this website will receive around 96,105,781 visitors per month in the current month.

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Many websites are intended to earn money, but some serve to share ideas or build connections. Websites exist for all kinds of purposes. This might be one of them. Doi.org has a secret sauce for making money, but we can't detect it yet.

Keywords {🔍}

article, pubmed, google, scholar, cas, mitochondrial, anemia, sideroblastic, myopathy, mlasa, mutation, genet, pus, syndrome, lactic, acidosis, central, italy, gene, hum, clinical, valentino, carelli, salviati, pegoraro, fischelghodsian, university, privacy, cookies, content, patient, elena, med, synthase, zeviani, padova, department, information, publish, research, search, molecular, mutations, published, alessandra, maresca, erratum, disease, access, casas,

Topics {✒️}

month download article/chapter enrico bertini mitochondrial disease article neurogenetics aims sideroblastic anemia-mlasa syndrome full article pdf rodriguez hernandez ma privacy choices/manage cookies autosomal recessive syndrome unusual clinical expression author information authors luchak jm argininosuccinate lyase deficiency mlasa syndrome due muscle weakness appeared european economic area mild cognitive impairment insulin-dependent diabetes persian jews caused androgen-dependent impairment bulbar muscular atrophy ross-cisneros fn yu-wai-man hereditary optic neuropathy ethics declarations conflict conditions privacy policy de novo mutation article cao genotype-phenotype spectrum check access instant access elena pegoraro valerio carelli accepting optional cookies homozygous yars2 mutation opa1 missense mutations mtdna author correspondence long-surviving patient pus1 gene med genet 25a med genet 127a article log belfort jr journal finder publish matteo cassina rosalba carozzo lucia valentino mlasa syndrome clinical maze

Schema {🗺️}

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         description:Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA) content in the patient compared to controls. Clinical and molecular findings of this patient widen the genotype-phenotype spectrum in MLASA syndrome.
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      name:Eva Galletta
      affiliation:
            name:University of Padova
            address:
               name:Department of Neuroscience, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Valeria Manfioli
      affiliation:
            name:University of Padova
            address:
               name:Department of Neuroscience, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Gianni SorarĂš
      affiliation:
            name:University of Padova
            address:
               name:Department of Neuroscience, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Valerio Carelli
      affiliation:
            name:University of Bologna
            address:
               name:Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
               type:PostalAddress
            type:Organization
            name:IRCCS Institute of Neurological Sciences, Bellaria Hospital
            address:
               name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
               type:PostalAddress
            type:Organization
      name:Roberto Stramare
      affiliation:
            name:University of Padova
            address:
               name:Section of Radiology, Department of Medicine, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Enrico Bertini
      affiliation:
            name:IRCCS
            address:
               name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
               type:PostalAddress
            type:Organization
      name:Rosalba Carozzo
      affiliation:
            name:IRCCS
            address:
               name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
               type:PostalAddress
            type:Organization
      name:Leonardo Salviati
      affiliation:
            name:University of Padova
            address:
               name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      name:Elena Pegoraro
      affiliation:
            name:University of Padova
            address:
               name:Department of Neuroscience, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
            name:University of Padova
            address:
               name:Department of Neurosciences, University of Padova, Padua, Italy
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
      name:Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
      name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
      name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
      name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
      name:IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy
      name:Section of Radiology, Department of Medicine, University of Padova, Padua, Italy
      name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
      name:Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children’s Research Hospital “Bambino Gesù”, IRCCS, Rome, Italy
      name:Department of Women’s and Children’s Health, University of Padova, Padua, Italy
      name:Department of Neuroscience, University of Padova, Padua, Italy
      name:Department of Neurosciences, University of Padova, Padua, Italy
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