نتائج البحث - "Gallus GN"

المؤلفون: Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Locci S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Pucci B; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Neurofisiologia Clinica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Leoni V; Laboratory of Clinical Chemistry, Hospital of Desio, ASST Brianza, School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy., Gasparini D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Tardelli E; Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy., Chincarini A; National Institute of Nuclear Physics ((INFN), Genoa, Italy., Sestini S; Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy., Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Calambrone, Italy., Zetterberg H; Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; UK Dementia Research Institute at UCL, London, UK.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.; Hong Kong Center for Neurodegenerative Diseases, Hong Kong Special Administrative Region, People's Republic of China., De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Mignarri A; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy andrea.mignarri@ao-siena.toscana.it.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.

المصدر: Journal of medical genetics [J Med Genet] 2024 Mar 21; Vol. 61 (4), pp. 332-339. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Alzheimer Disease*/genetics , Neurodegenerative Diseases* , Niemann-Pick Disease, Type C*/diagnosis , Niemann-Pick Disease, Type C*/genetics , Oxysterols*, Humans ; Mutation ; Niemann-Pick C1 Protein/genetics

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دورية أكاديمية

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

المؤلفون: Aguti S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Salvatore S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Rubegni A; Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy., Berti G; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Formichi P; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.

المصدر: Cells [Cells] 2024 Feb 10; Vol. 13 (4). Date of Electronic Publication: 2024 Feb 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Muscles*/pathology , Muscular Dystrophies, Limb-Girdle*/diagnosis , Muscular Dystrophies, Limb-Girdle*/genetics , Muscular Dystrophies, Limb-Girdle*/pathology, Humans ; Mutation/genetics ; Heterozygote ; Biomarkers

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دورية أكاديمية

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.

المؤلفون: Pretegiani E; Eye Tracking and Visual Application Lab (EVALab), Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy; Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Rosini F; Eye Tracking and Visual Application Lab (EVALab), Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Rufa A; Eye Tracking and Visual Application Lab (EVALab), Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. Electronic address: rufa@unisi.it., Gallus GN; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Cardaioli E; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Da Pozzo P; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Bianchi S; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Serchi V; Eye Tracking and Visual Application Lab (EVALab), Dpt Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Collura M; Italian Union of the Blind, Siracusa, Italy., Franceschini R; Dpt of Ophthalmology, University of Siena, Siena, Italy., Bianchi Marzoli S; Neuro-Ophthalmology Service, Department of Ophthalmology, Fondazione IRCCS Istituto Auxologico Italiano, Milan, Italy., Dotti MT; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Federico A; Unit of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2017 Nov 15; Vol. 382, pp. 29-35. Date of Electronic Publication: 2017 Sep 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , Tomography, Optical Coherence*, GTP Phosphohydrolases/*genetics , Optic Atrophy, Autosomal Dominant/*diagnostic imaging , Optic Atrophy, Autosomal Dominant/*genetics, Adult ; Age Factors ; Cohort Studies ; Family ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; Italy ; Male ; Middle Aged ; Optic Atrophy, Autosomal Dominant/physiopathology ; Phenotype ; Visual Acuity ; Young Adult

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