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    Wyświetlanie 1-11 z 11
    Tytuł:
    A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3).
    Autorzy:
    Perrone A; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
    Mohamed S; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
    Donadio V; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
    Liguori R; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
    Contin M; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.
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    Źródło:
    Molecules (Basel, Switzerland) [Molecules] 2021 Dec 03; Vol. 26 (23). Date of Electronic Publication: 2021 Dec 03.
    Typ publikacji:
    Journal Article; Validation Study
    MeSH Terms:
    Chromatography, High Pressure Liquid/*methods
    Fabry Disease/*blood
    Glycolipids/*blood
    Sphingolipids/*blood
    Tandem Mass Spectrometry/*methods
    Adult ; Chromatography, High Pressure Liquid/economics ; Humans ; Limit of Detection ; Middle Aged ; Tandem Mass Spectrometry/economics ; Time Factors ; Trihexosylceramides/blood
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model.
    Autorzy:
    Masotti M; Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Bologna, Italy.
    Delprete C; Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Bologna, Italy.
    Dothel G; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
    Donadio V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
    Rimondini R; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
    Politei JM; Fundation for the Study of Neurometabolic Diseases, FESEN, Buenos Aires, Argentina.
    Liguori R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Caprini M; Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Bologna, Italy.
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    Źródło:
    Neurogastroenterology and motility [Neurogastroenterol Motil] 2019 Mar; Vol. 31 (3), pp. e13529. Date of Electronic Publication: 2019 Jan 04.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Colon/*metabolism
    Colon/*pathology
    Fabry Disease/*metabolism
    Fabry Disease/*pathology
    Nerve Fibers/*pathology
    Trihexosylceramides/*metabolism
    Animals ; Cytokines/blood ; Female ; Male ; Mice ; Mice, Knockout ; Myenteric Plexus/metabolism ; Myenteric Plexus/pathology ; Trihexosylceramides/genetics ; Ubiquitin Thiolesterase/genetics ; alpha-Galactosidase/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
    Autorzy:
    Liguori R; IRCCS Institute of Neurological Sciences, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
    Incensi A; IRCCS Institute of Neurological Sciences, Bologna, Italy.
    de Pasqua S; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
    Mignani R; Department of Nephrology, Degli Infermi Hospital, Rimini, Italy.
    Fileccia E; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
    Santostefano M; Division of Nephrology, S. Orsola-Malpighi Hospital, Bologna, Italy.
    Biagini E; Department of Cardiology, S. Orsola-Malpighi Hospital, Bologna, Italy.
    Rapezzi C; Department of Cardiology, S. Orsola-Malpighi Hospital, Bologna, Italy.
    Palmieri S; Department of Cardiology, S. Orsola-Malpighi Hospital, Bologna, Italy.
    Romani I; NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy.
    Borsini W; NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy.
    Burlina A; Department of Neurology, S. Bassiano Hospital, Bassano del Grappa (VI), Italy.
    Bombardi R; Department of Neurology, S. Bassiano Hospital, Bassano del Grappa (VI), Italy.
    Caprini M; Laboratory of Human and General Physiology, FaBiT, University of Bologna, Bologna, Italy.
    Avoni P; IRCCS Institute of Neurological Sciences, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
    Donadio V; IRCCS Institute of Neurological Sciences, Bologna, Italy.
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    Źródło:
    PloS one [PLoS One] 2017 Jul 03; Vol. 12 (7), pp. e0180581. Date of Electronic Publication: 2017 Jul 03 (Print Publication: 2017).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Mutation*
    Fabry Disease/*genetics
    Small Fiber Neuropathy/*metabolism
    Trihexosylceramides/*metabolism
    Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Small Fiber Neuropathy/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.
    Autorzy:
    Lakomá J; Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Italy Institute of Molecular and Cellular Biology, University of Miguel Hernandez, Spain.
    Rimondini R; IRCCS Institute of Neurological Sciences, AUSL Bologna, Italy.
    Ferrer Montiel A; Department of Medical and Clinical Sciences (DIMEC), University of Bologna, Italy.
    Donadio V; Institute of Molecular and Cellular Biology, University of Miguel Hernandez, Spain.
    Liguori R; Institute of Molecular and Cellular Biology, University of Miguel Hernandez, Spain Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Italy.
    Caprini M; Department of Pharmacy and Biotechnology (FaBiT), Laboratory of Human and General Physiology, University of Bologna, Italy .
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    Źródło:
    Molecular pain [Mol Pain] 2016 Aug 16; Vol. 12. Date of Electronic Publication: 2016 Aug 16 (Print Publication: 2016).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Fabry Disease/*genetics
    Pain/*genetics
    TRPV Cation Channels/*metabolism
    Animals ; Disease Models, Animal ; Exocytosis/physiology ; Fabry Disease/metabolism ; Female ; Ganglia, Spinal/cytology ; Mice, Transgenic ; Neurons/metabolism ; Nociception/physiology ; TRPV Cation Channels/genetics ; alpha-Galactosidase/genetics ; alpha-Galactosidase/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
    Autorzy:
    Politei JM; Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN), Buenos Aires, Argentina.
    Bouhassira D; INSERM U-987, Centre d'Evaluation et de Traitement de la Douleur, Hôpital Ambroise Paré, Boulogne, France.
    Germain DP; Division of Medical Genetics, University of Versailles - St Quentin en Yvelines, Paris-Saclay University, Montigny, France.
    Goizet C; CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale and Université Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.
    Guerrero-Sola A; Neuromuscular Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain.
    Hilz MJ; Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
    Hutton EJ; Department of Neurology, The Alfred Hospital, Melbourne, Vic., Australia.
    Karaa A; Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
    Liguori R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Institute of Neurological Sciences, Bologna, Italy.
    Üçeyler N; Department of Neurology, University of Würzburg, Würzburg, Germany.
    Zeltzer LK; Pediatric Pain and Palliative Care Program, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
    Burlina A; Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy.
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    Źródło:
    CNS neuroscience & therapeutics [CNS Neurosci Ther] 2016 Jul; Vol. 22 (7), pp. 568-76. Date of Electronic Publication: 2016 Mar 28.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Fabry Disease/*complications
    Pain/*diagnosis
    Pain/*etiology
    Pain Management/*methods
    Analgesics, Non-Narcotic/therapeutic use ; Anti-Inflammatory Agents, Non-Steroidal/therapeutic use ; Diagnosis, Differential ; Enzyme Replacement Therapy ; Fabry Disease/pathology ; Fabry Disease/therapy ; Female ; Ganglia, Spinal/pathology ; Humans ; Life Style ; Male ; Pain Measurement ; Surveys and Questionnaires
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice.
    Autorzy:
    Lakomá J; Laboratory of Human and General Physiology, Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Bologna, Italy.
    Rimondini R; Department of Medical and Clinical Sciences (DIMEC), University of Bologna, Bologna, Italy.
    Donadio V; IRCCS Institute of Neurological Sciences, AUSL Bologna, Bologna, Italy.
    Liguori R; IRCCS Institute of Neurological Sciences, AUSL Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
    Caprini M; Laboratory of Human and General Physiology, Department of Pharmacy and Biotechnology (FaBiT), University of Bologna, Bologna, Italy.
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    Źródło:
    PloS one [PLoS One] 2014 Oct 22; Vol. 9 (10), pp. e108641. Date of Electronic Publication: 2014 Oct 22 (Print Publication: 2014).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Fabry Disease/*genetics
    Neuralgia/*genetics
    alpha-Galactosidase/*genetics
    Animals ; Disease Models, Animal ; Fabry Disease/pathology ; Female ; Gene Expression Regulation ; Humans ; Mice ; Mice, Knockout ; NAV1.8 Voltage-Gated Sodium Channel/biosynthesis ; Neuralgia/enzymology ; Neuralgia/pathology ; Skin/enzymology ; Skin/metabolism ; Skin/pathology ; TRPV Cation Channels/biosynthesis ; alpha-Galactosidase/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-11 z 11

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