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Tytuł :
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.
Autorzy :
Nigri A; Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sarro L; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.; Neurology Unit, Martini Hospital, Turin, Italy.
Mongelli A; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Castaldo A; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Porcu L; Methodology for Clinical Research Laboratory, Oncology Department, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
Pinardi C; Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Grisoli M; Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ferraro S; Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Canafoglia L; Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Visani E; Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Bruzzone MG; Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nanetti L; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Taroni F; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.
Mariotti C; Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. .
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Źródło :
Cerebellum (London, England) [Cerebellum] 2021 Jun 09. Date of Electronic Publication: 2021 Jun 09.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington's disease phenotypes.
Autorzy :
Birolini G; Department of Biosciences, University of Milan, 20133, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi″, 20122, Milan, Italy.
Verlengia G; Division of Neuroscience, IRCCS San Raffaele Hospital, 20132, Milan, Italy.; Department of BioMedical Sciences, Section of Pharmacology, University of Ferrara, 44121, Ferrara, Italy.
Talpo F; Department of Biology and Biotechnologies, University of Pavia, 27100, Pavia, Italy.
Maniezzi C; Department of Biology and Biotechnologies, University of Pavia, 27100, Pavia, Italy.
Zentilin L; International Centre for Genetic Engineering and Biotechnology, ICGEB, 34149, Trieste, Italy.
Giacca M; International Centre for Genetic Engineering and Biotechnology, ICGEB, 34149, Trieste, Italy.; School of Cardiovascular Medicine and Sciences, King's College London, SE5 9NU, UK.
Conforti P; Department of Biosciences, University of Milan, 20133, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi″, 20122, Milan, Italy.
Cordiglieri C; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi″, 20122, Milan, Italy.
Caccia C; Unit of Medical Genetics and Neurogenetics. Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, 20131 Milan, Italy.
Leoni V; School of Medicine and Surgery, University of Milano-Bicocca, 20900, Monza, Italy.; Laboratory of Clinical Pathology, Hospital of Desio, ASST Monza, 20900, Monza, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics. Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, 20131 Milan, Italy.
Biella G; Department of Biology and Biotechnologies, University of Pavia, 27100, Pavia, Italy.
Simonato M; Division of Neuroscience, IRCCS San Raffaele Hospital, 20132, Milan, Italy.; Department of BioMedical Sciences, Section of Pharmacology, University of Ferrara, 44121, Ferrara, Italy.
Cattaneo E; Department of Biosciences, University of Milan, 20133, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi″, 20122, Milan, Italy.
Valenza M; Department of Biosciences, University of Milan, 20133, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi″, 20122, Milan, Italy.
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Źródło :
Brain : a journal of neurology [Brain] 2021 May 11. Date of Electronic Publication: 2021 May 11.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A generalised Bayes' factor formula for evidence evaluation under activity level propositions: Variations around a fibres scenario.
Autorzy :
Taroni F; School of Criminal Justice, University of Lausanne, Lausanne, Switzerland. Electronic address: Franco.Taroni@unil.ch.
Garbolino P; Department of Architecture and Arts, IUAV University, Venice, Italy.
Aitken C; School of Mathematics and Maxwell Institute, University of Edinburgh, Edinburgh, United Kingdom.
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Źródło :
Forensic science international [Forensic Sci Int] 2021 May; Vol. 322, pp. 110750. Date of Electronic Publication: 2021 Mar 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Autorzy :
Abati E; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Meneri M; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Manenti G; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.
Velardo D; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Balistreri F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pisciotta C; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Saveri P; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Bresolin N; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Comi GP; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ronchi D; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.
Pareyson D; Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Corti S; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 May; Vol. 8 (5), pp. 1158-1164. Date of Electronic Publication: 2021 May 04.
Typ publikacji :
Case Reports
Raport
Tytuł :
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Autorzy :
Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Benzoni C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Farina L; Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Neuroimaging Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.
Maccagnano C; Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Moscatelli M; Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Baratta S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciano C; Unit of Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Piacentini SHMJ; Unit of Neuropsychology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Draghi L; Unit of Neuropsychology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mauro E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Neuroscience PhD Program, University of Milano-Bicocca, Monza, Italy.
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Źródło :
European journal of neurology [Eur J Neurol] 2021 Mar; Vol. 28 (3), pp. 934-944. Date of Electronic Publication: 2020 Dec 03.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Insights into kinetics, release, and behavioral effects of brain-targeted hybrid nanoparticles for cholesterol delivery in Huntington's disease.
Autorzy :
Birolini G; Department of Biosciences, University of Milan, via G. Celoria 26, 20133 Milan, Italy; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', via F. Sforza 35, 20122 Milan, Italy.
Valenza M; Department of Biosciences, University of Milan, via G. Celoria 26, 20133 Milan, Italy; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', via F. Sforza 35, 20122 Milan, Italy. Electronic address: .
Ottonelli I; Nanotech Lab, Te.Far.T.I. Center, Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi, 103, 41125 Modena, Italy; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, via G. Campi 289, 411214 Modena, Italy.
Passoni A; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, via Mario Negri 2, 20156 Milan, Italy.
Favagrossa M; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, via Mario Negri 2, 20156 Milan, Italy.
Duskey JT; Nanotech Lab, Te.Far.T.I. Center, Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi, 103, 41125 Modena, Italy; Umberto Veronesi Foundation, 20122 Milan, Italy.
Bombaci M; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', via F. Sforza 35, 20122 Milan, Italy.
Vandelli MA; Nanotech Lab, Te.Far.T.I. Center, Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi, 103, 41125 Modena, Italy.
Colombo L; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, via Mario Negri 2, 20156 Milan, Italy.
Bagnati R; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, via Mario Negri 2, 20156 Milan, Italy.
Caccia C; Unit of Medical Genetics and Neurogenetics, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Via Celoria 11, 20131 Milan, Italy.
Leoni V; Laboratory of Clinical Pathology, Hospital of Desio, ASST-Monza, School of Medicine and Surgery, University of Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Via Celoria 11, 20131 Milan, Italy.
Forni F; Nanotech Lab, Te.Far.T.I. Center, Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi, 103, 41125 Modena, Italy.
Ruozi B; Nanotech Lab, Te.Far.T.I. Center, Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi, 103, 41125 Modena, Italy.
Salmona M; Istituto di Ricerche Farmacologiche Mario Negri IRCCS, via Mario Negri 2, 20156 Milan, Italy.
Tosi G; Nanotech Lab, Te.Far.T.I. Center, Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi, 103, 41125 Modena, Italy.
Cattaneo E; Department of Biosciences, University of Milan, via G. Celoria 26, 20133 Milan, Italy; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', via F. Sforza 35, 20122 Milan, Italy. Electronic address: .
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Źródło :
Journal of controlled release : official journal of the Controlled Release Society [J Control Release] 2021 Feb 10; Vol. 330, pp. 587-598. Date of Electronic Publication: 2021 Jan 05.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.
Autorzy :
Magri S; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nanetti L; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mongelli A; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Rizzo E; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mariotti C; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 397-400. Date of Electronic Publication: 2020 Nov 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Bayesian multivariate models for case assessment in dynamic signature cases.
Autorzy :
Linden J; School of Criminal Justice, University of Lausanne, CH-1015 Lausanne Dorigny, Switzerland. Electronic address: .
Taroni F; School of Criminal Justice, University of Lausanne, CH-1015 Lausanne Dorigny, Switzerland.
Marquis R; School of Criminal Justice, University of Lausanne, CH-1015 Lausanne Dorigny, Switzerland.
Bozza S; Dipartimento di Economia, Università Ca' Foscari Venezia, Dorsoduro, 3246, 30123 Venezia VE, Italy; School of Criminal Justice, University of Lausanne, CH-1015 Lausanne Dorigny, Switzerland.
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Źródło :
Forensic science international [Forensic Sci Int] 2021 Jan; Vol. 318, pp. 110611. Date of Electronic Publication: 2020 Nov 22.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Minor or adult? Introducing decision analysis in forensic age estimation.
Autorzy :
Sironi E; School of Criminal Justice, Building Batochime, University of Lausanne, 1015 Lausanne-Dorigny, Switzerland. Electronic address: .
Gittelson S; Centre for Forensic Science, University of Technology Sydney, Broadway, NSW 2007, Australia. Electronic address: .
Bozza S; School of Criminal Justice, Building Batochime, University of Lausanne, 1015 Lausanne-Dorigny, Switzerland; Department of Economics, University Ca' Foscari of Venice, Venice, Italy. Electronic address: .
Taroni F; School of Criminal Justice, Building Batochime, University of Lausanne, 1015 Lausanne-Dorigny, Switzerland. Electronic address: franco.taroni@unil.ch.
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Źródło :
Science & justice : journal of the Forensic Science Society [Sci Justice] 2021 Jan; Vol. 61 (1), pp. 47-60. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages.
Autorzy :
Nigri A; Department of Neuroradiology, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Sarro L; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.; Ospedale Martini, Turin, Italy.
Mongelli A; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Pinardi C; Department of Neuroradiology, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Porcu L; Laboratory of Methodology for Clinical Research, Oncology Department, Istituto di Ricerche Farmacologiche Mario Negri Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
Castaldo A; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Ferraro S; Department of Neuroradiology, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Grisoli M; Department of Neuroradiology, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Bruzzone MG; Department of Neuroradiology, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Mariotti C; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
Nanetti L; Department of Medical Genetics and Neurogenetics, Fondazione Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Frontiers in neurology [Front Neurol] 2020 Dec 15; Vol. 11, pp. 616419. Date of Electronic Publication: 2020 Dec 15 (Print Publication: 2020).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Autorzy :
Pipis M; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Feely SME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Polke JM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Skorupinska M; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Perez L; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Shy RR; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Laura M; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Morrow JM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Vujovic D; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Lloyd TE; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Acsadi G; Connecticut Children's Medical Center, Hartford, CT, USA.
Yum SW; The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY, USA.
Day JW; Department of Neurology, Stanford Health Care, Stanford, CA, USA.
Li J; Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA.
Saporta M; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Sadjadi R; Massachusetts General Hospital, Boston, Massachusetts, USA.
Walk D; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
Burns J; University of Sydney School of Health Sciences and Children's Hospital at Westmead, Sydney, Australia.
Muntoni F; Dubowitz Neuromuscular Centre, NIHR Biomedical Research Centre at UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
Ramchandren S; PRA Health Services, Raleigh, NC, USA.
Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Johnson NE; Virginia Commonwealth University, Richmond, VA, USA.
Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Rossor AM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
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Corporate Authors :
Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Źródło :
Brain : a journal of neurology [Brain] 2020 Dec 01; Vol. 143 (12), pp. 3589-3602.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Charcot-Marie-Tooth Disease/*pathology
Adolescent ; Adult ; Age of Onset ; Charcot-Marie-Tooth Disease/genetics ; Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Female ; GTP Phosphohydrolases/genetics ; Genes, Dominant ; Genes, Recessive ; Genetic Association Studies ; Genetic Markers ; Humans ; Infant ; Longitudinal Studies ; Male ; Mitochondrial Proteins/genetics ; Neurologic Examination ; Orthotic Devices/statistics & numerical data ; Prognosis ; Prospective Studies ; Wheelchairs ; Young Adult
SCR Disease Name :
Charcot-Marie-Tooth disease, Type 2A
Czasopismo naukowe
Tytuł :
Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.
Autorzy :
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Danti FR; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Balistreri F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Baratta S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Ciano C; Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pagliano E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2020 Dec; Vol. 25 (4), pp. 429-432. Date of Electronic Publication: 2020 Sep 04.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
Raport
Tytuł :
Striatal infusion of cholesterol promotes dose-dependent behavioral benefits and exerts disease-modifying effects in Huntington's disease mice.
Autorzy :
Birolini G; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
Valenza M; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
Di Paolo E; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
Vezzoli E; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
Talpo F; Department of Biology and Biotechnologies, University of Pavia, Pavia, Italy.
Maniezzi C; Department of Biology and Biotechnologies, University of Pavia, Pavia, Italy.
Caccia C; Unit of Medical Genetics and Neurogenetics, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milan, Italy.
Leoni V; School of Medicine and Surgery, Monza and Laboratory of Clinical Pathology, Hospital of Desio, ASST-Monza, University of Milano-Bicocca, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milan, Italy.
Bocchi VD; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
Conforti P; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
Sogne E; Biological and Environmental Science & Engineering (BESE) Division, NABLA Lab, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Petricca L; Neuroscience Unit, Translational and Discovery Research Department, IRBM S.p.A, Rome, Italy.
Cariulo C; Neuroscience Unit, Translational and Discovery Research Department, IRBM S.p.A, Rome, Italy.
Verani M; Neuroscience Unit, Translational and Discovery Research Department, IRBM S.p.A, Rome, Italy.
Caricasole A; Neuroscience Unit, Translational and Discovery Research Department, IRBM S.p.A, Rome, Italy.
Falqui A; Biological and Environmental Science & Engineering (BESE) Division, NABLA Lab, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Biella G; Department of Biology and Biotechnologies, University of Pavia, Pavia, Italy.
Cattaneo E; Department of Biosciences, University of Milan, Milan, Italy.; Istituto Nazionale di Genetica Molecolare 'Romeo ed Enrica Invernizzi', Milan, Italy.
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Źródło :
EMBO molecular medicine [EMBO Mol Med] 2020 Oct 07; Vol. 12 (10), pp. e12519. Date of Electronic Publication: 2020 Sep 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
The use of Bayesian Networks and simulation methods to identify the variables impacting the value of evidence assessed under activity level propositions in stabbing cases.
Autorzy :
Samie L; School of Criminal Justice, Faculty of Law, Criminal Justice and Public Administration, University of Lausanne, Lausanne, Dorigny, Switzerland; Forensic Genetics Unit, University Center of Legal Medicine Lausanne and Geneva, Lausanne, Switzerland. Electronic address: .
Champod C; School of Criminal Justice, Faculty of Law, Criminal Justice and Public Administration, University of Lausanne, Lausanne, Dorigny, Switzerland.
Taylor D; Forensic Science SA, PO Box 2790, Adelaide, SA, 5000, Australia; College of Science and Engineering, Flinders University, Adelaide, Australia.
Taroni F; School of Criminal Justice, Faculty of Law, Criminal Justice and Public Administration, University of Lausanne, Lausanne, Dorigny, Switzerland.
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Źródło :
Forensic science international. Genetics [Forensic Sci Int Genet] 2020 Sep; Vol. 48, pp. 102334. Date of Electronic Publication: 2020 Jun 11.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Autorzy :
Traschütz A; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Schirinzi T; Neurorehabilitation Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Department of Systems Medicine, University of Roma Tor Vergata, Rome, Italy.
Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
Murray NH; Morgridge Institute for Research, Madison, WI, USA.; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Bingman CA; Morgridge Institute for Research, Madison, WI, USA.; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Reich S; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Kern J; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
Heinzmann A; Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; AP-HP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
Vasco G; Neurorehabilitation Unit, Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Zanni G; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Durr A; Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; AP-HP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Malandrini A; Department of Medicine, Surgery, and Neurosciences, University of Siena, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Baets J; Neurogenetics Group, University of Antwerp, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
de Jonghe P; Neurogenetics Group, University of Antwerp, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
de Ridder W; Neurogenetics Group, University of Antwerp, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Bereau M; Service de Neurologie, Université de Franche-Comté, CHRU de Besançon, Besançon, France.; Unité Extrapyramidale, Département des Neurosciences Cliniques, HUG, Faculté de Médecine, Université de Genève, Geneva, Switzerland.
Demuth S; Praxis für Humangenetik Erfurt, Erfurt, Germany.
Ganos C; Department of Neurology, Charité University Medicine Berlin, Berlin, Germany.
Basak AN; Suna and Inan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, Koç University School of Medicine, Istanbul, Turkey.
Hanagasi H; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Kurul SH; Departments of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.
Bender B; Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Klopstock T; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians University of Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
van de Warrenburg B; Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Burglen L; Centre de Référence Maladies Rares 'Malformations et Maladies Congénitales du Cervelet', Paris-Lyon-Lille, France.; Département de Génétique et Embryologie Médicale, APHP, GHUEP, Hôpital Armand Trousseau, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France.
Rougeot C; Centre de Référence Maladies Rares 'Malformations et Maladies Congénitales du Cervelet', Paris-Lyon-Lille, France.; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France.
Ewenczyk C; Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.; AP-HP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.; Hôpitaux universitaires Pitié Salpêtrière - Charles Foix, Service de Génétique, Paris, France.
Koenig M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, Montpellier, France.
Santorelli FM; IRCCS Fondazione Stella Maris, Pisa, Italy.
Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.
Munhoz RP; Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Krembil Research Institute, Toronto, Ontario, Canada.
Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Distelmaier F; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
Pagliarini DJ; Morgridge Institute for Research, Madison, WI, USA.; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Puccio H; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.; INSERM, U1258, Illkirch, France.; CNRS, UMR7104, IIllkirch, France.; Université de Strasbourg, Strasbourg, France.
Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
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Źródło :
Annals of neurology [Ann Neurol] 2020 Aug; Vol. 88 (2), pp. 251-263. Date of Electronic Publication: 2020 Jun 10.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Cerebellar Ataxia/*diagnostic imaging
Cerebellar Ataxia/*genetics
Genetic Variation/*genetics
Magnetic Resonance Imaging/*methods
Ubiquinone/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Protein Structure, Secondary ; Ubiquinone/chemistry ; Young Adult
Czasopismo naukowe
Tytuł :
Born with a solitary kidney: at risk of hypertension.
Autorzy :
La Scola C; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy.
Marra G; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico di Milano, Milan, Italy.
Ammenti A; Unità Polispecialistica Pediatrica, Ambulatorio Medi-Saluser, Parma, Italy.
Pasini A; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy.
Taroni F; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico di Milano, Milan, Italy.
Bertulli C; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy.
Morello W; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico di Milano, Milan, Italy.
Ceccoli M; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy.
Mencarelli F; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy.
Guarino S; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy.; Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania L. Vanvitelli, Naples, Italy.
Puccio G; Palermo, Italy.
Montini G; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico di Milano, Milan, Italy. .; Giuliana and Bernardo Caprotti Chair of Pediatrics, Department of Clinical Sciences and Community Health, University of Milano, Milan, Italy. .
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Źródło :
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2020 Aug; Vol. 35 (8), pp. 1483-1490. Date of Electronic Publication: 2020 Mar 24.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Autorzy :
Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Del Dotto V; Neurology Unit, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Balistreri F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.; Neurology Unit, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.; Neurology Unit, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Baratta S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Schöls L; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.
Schüle R; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.
Barboni P; Studio Oculistico D'Azeglio, Bologna, Italy.; IRCCS Ospedale San Raffaele, Milan, Italy.
Cascavilla ML; IRCCS Ospedale San Raffaele, Milan, Italy.
Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Ardissone A; Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Cammarata G; Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy.
Melzi L; Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy.
Zeviani M; Department of Neuroscience, University of Padua, Padua, Italy.
Peverelli L; Neurology Unit, Azienda Socio Sanitaria Territoriale Lodi, Ospedale Maggiore di Lodi, Lodi, Italy.
Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Marzoli SB; Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy.
Fang M; Beijing Genomics Institute-Shenzhen, Shenzhen, China.
Synofzik M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.
Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Medical-Surgical Physiopathology and Transplantation, University of Milan, Milan, Italy.
Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.; Neurology Unit, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło :
Annals of neurology [Ann Neurol] 2020 Jul; Vol. 88 (1), pp. 18-32. Date of Electronic Publication: 2020 Apr 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
ATP-Dependent Proteases/*genetics
ATPases Associated with Diverse Cellular Activities/*genetics
GTP Phosphohydrolases/*genetics
Optic Atrophy/*genetics
Optic Nerve Diseases/*genetics
Adolescent ; Adult ; Aged ; Child ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Autorzy :
Cortese A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. .; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK. .; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. .
Zhu Y; Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA.; Program in Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA.
Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Negri S; Istituiti Clinici Scientifici Maugeri IRCCS, Environmental Research Center, Pavia, Italy.
Courel S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Abreu L; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Bacon CJ; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Bai Y; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Bis-Brewer DM; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Bugiardini E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Buglo E; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Athanasiou-Fragkouli A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Haridy NA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
Isasi R; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Khan A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.; Molecular Diagnostic Unit, Clinical Laboratory Department, King Abdullah Medical City in Makkah, Mecca, Saudi Arabia.
Laurà M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pipis M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Powell E; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Rossor AM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Saveri P; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sowden JE; Department of Neurology, University of Rochester, Rochester, NY, USA.
Tozza S; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Vandrovcova J; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Dallman J; Department of Biology, University of Miami, Coral Gables, FL, USA.
Grignani E; Istituiti Clinici Scientifici Maugeri IRCCS, Environmental Research Center, Pavia, Italy.
Marchioni E; IRCCS Mondino Foundation, Pavia, Italy.
Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Tang B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Lin Z; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Al-Ajmi A; Division of Neurology, Department of Medicine, Al-Jahra Hospital, Al-Jahra, Kuwait.
Schüle R; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Synofzik M; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Maisonobe T; Department of Neurophysiology, AP-HP, Sorbonne Université, Hôpital Pitié Salpêtrière, Paris, France.
Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, AP-HP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.
Auer-Grumbach M; Department of Orthopaedics and Traumatology, Medical University of Vienna, Vienna, Austria.
Abdelhamed MA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
Zhang R; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Manganelli F; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Santoro L; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples 'Federico II', Naples, Italy.
Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY, USA.
Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Zhai RG; Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA. .; Program in Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA. .
Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. .
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Corporate Authors :
Inherited Neuropathy Consortium
Źródło :
Nature genetics [Nat Genet] 2020 Jun; Vol. 52 (6), pp. 640.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects.
Autorzy :
D'Arrigo S; Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
Tessarollo V; Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
Taroni F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
Baratta S; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
Pantaleoni C; Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
Schiaffi E; Department of Diagnostics and Applied Technology, Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
Ciano C; Department of Diagnostics and Applied Technology, Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS, Istituto Neurologico 'C. Besta,' Milan, Italy.
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Źródło :
Neuropediatrics [Neuropediatrics] 2020 Jun; Vol. 51 (3), pp. 173-177. Date of Electronic Publication: 2019 Nov 29.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Arthrogryposis*/diagnosis
Arthrogryposis*/genetics
Arthrogryposis*/physiopathology
Hereditary Sensory and Motor Neuropathy*/diagnosis
Hereditary Sensory and Motor Neuropathy*/genetics
Hereditary Sensory and Motor Neuropathy*/physiopathology
Myelin Proteins/*genetics
Child, Preschool ; Female ; Gene Deletion ; Humans ; Neural Conduction/physiology ; Pedigree
SCR Disease Name :
Tomaculous neuropathy
Czasopismo naukowe

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