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Academic Journal

Listeriolysin O antibodies detection in pregnant women: results from an Italian pilot study.

Subjects: Antibodies, Bacterial/Antibodies, Bacterial/Antibodies, Bacterial/*immunology ; Bacterial Toxins/Bacterial Toxins/Bacterial Toxins/*immunology ; Heat-Shock Proteins/Heat-Shock Proteins/Heat-Shock Proteins/*immunology

  • Source: Annali di igiene : medicina preventiva e di comunita [Ann Ig] 2019 Jul-Aug; Vol. 31 (4), pp. 326-332.Publisher: Societa Editrice Universo Country of Publication: Italy NLM ID: 9002865 Publication Model: Print Cited Medium:

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Academic Journal

DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.

  • Authors : Gagliardi M; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: .; Annesi G

Subjects: Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics ; HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/*genetics ; Mutation/Mutation/Mutation/*genetics

  • Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2018 Oct; Vol. 55, pp. 134-137. Date of Electronic Publication: 2018 Jun 04.Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.

  • Authors : Capponi S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.; VIB Department of Molecular Genetics, Peripheral Neuropathy Group, Born Bunge Foundation, University of Antwerp, Antwerp, Belgium.

Subjects: Mutation*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; HSP27 Heat-Shock Proteins/HSP27 Heat-Shock Proteins/HSP27 Heat-Shock Proteins/*genetics

  • Source: Human mutation [Hum Mutat] 2016 Nov; Vol. 37 (11), pp. 1202-1208. Date of Electronic Publication: 2016 Aug 30.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

  • Authors : Ruggieri A; Neuromuscular Disease and Immunology Unit, Fondazione IRCCS Istituto Neurologico 'C. Besta', Via Celoria 11, 20133, Milan, Italy.; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, Canada.

Subjects: Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics ; HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/*genetics ; Molecular Chaperones/Molecular Chaperones/Molecular Chaperones/*genetics

  • Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2015 Jul 25; Vol. 3, pp. 44. Date of Electronic Publication: 2015 Jul 25.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients.

  • Authors : Garnier S; INSERM, UMR_S 1166, F-75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France

Subjects: Gene Expression Regulation*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics ; Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/*genetics

  • Source: International journal of cardiology [Int J Cardiol] 2015; Vol. 189, pp. 105-7. Date of Electronic Publication: 2015 Apr 01.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

Subjects: Arginine/Arginine/Arginine/*genetics ; Heat-Shock Proteins/Heat-Shock Proteins/Heat-Shock Proteins/*genetics ; Histidine/Histidine/Histidine/*genetics Spastic Ataxia

  • Source: Cerebellum (London, England) [Cerebellum] 2013 Aug; Vol. 12 (4), pp. 589-92.Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print Cited Medium: Internet ISSN: 1473-4230

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Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

Subjects: Mutation*; Brain/Brain/Brain/*pathology ; Heat-Shock Proteins/Heat-Shock Proteins/Heat-Shock Proteins/*genetics Spastic ataxia Charlevoix-Saguenay type

  • Source: European journal of neurology [Eur J Neurol] 2012 Aug; Vol. 19 (8), pp. e77-8.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic)

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Academic Journal

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

  • Authors : Sarparanta J; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.; Jonson PH

Subjects: HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/HSP40 Heat-Shock Proteins/*genetics ; Molecular Chaperones/Molecular Chaperones/Molecular Chaperones/*genetics ; Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/*genetics

  • Source: Nature genetics [Nat Genet] 2012 Feb 26; Vol. 44 (4), pp. 450-5, S1-2. Date of Electronic Publication: 2012 Feb 26.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

  • Authors : Capponi S; Department of Neuroscience, Ophthalmology and Genetics-Section of Medical Genetics, University of Genoa, Genoa, Italy.; Geroldi A

Subjects: Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/Charcot-Marie-Tooth Disease/*genetics ; HSP27 Heat-Shock Proteins/HSP27 Heat-Shock Proteins/HSP27 Heat-Shock Proteins/*genetics ; Heat-Shock Proteins/Heat-Shock Proteins/Heat-Shock Proteins/*genetics

  • Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2011 Dec; Vol. 16 (4), pp. 287-94.Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027

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Academic Journal

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.

  • Authors : Mandich P; Department of Neurosciences, Ophthalmology and Genetics-Section of Medical Genetics, University of Genova, Genova, Italy.; Grandis M

Subjects: Frameshift Mutation*; Diphtheria-Tetanus-Pertussis Vaccine/Diphtheria-Tetanus-Pertussis Vaccine/Diphtheria-Tetanus-Pertussis Vaccine/*adverse effects ; HSP27 Heat-Shock Proteins/HSP27 Heat-Shock Proteins/HSP27 Heat-Shock Proteins/*genetics

  • Source: Journal of child neurology [J Child Neurol] 2010 Jan; Vol. 25 (1), pp. 107-9. Date of Electronic Publication: 2009 May 11.Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283

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