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Tytuł:
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.
Autorzy:
Magri F; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Napoli L; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ripolone M; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ciscato P; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Moggio M; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Corti S; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Comi GP; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Sciacco M; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Zanotti S; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 12; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Journal Article
MeSH Terms:
MicroRNAs*/genetics
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Gene Expression Profiling ; Biomarkers ; ROC Curve
Czasopismo naukowe
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Tytuł:
Lafora Disease: A Case Report and Evolving Treatment Advancements.
Autorzy:
Ferrari Aggradi CR; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Rimoldi M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Romagnoli G; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Velardo D; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Meneri M; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Stroke Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Iacobucci D; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ripolone M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Napoli L; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ciscato P; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Moggio M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Comi GP; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ronchi D; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Corti S; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Abati E; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
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Źródło:
Brain sciences [Brain Sci] 2023 Dec 06; Vol. 13 (12). Date of Electronic Publication: 2023 Dec 06.
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.
Autorzy:
Bitetto G; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.
Lopez G; Division of Pathology, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Ronchi D; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.
Pittaro A; Division of Pathology, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Melzi V; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.
Peverelli E; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Cribiù FM; Division of Pathology, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Comi GP; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.
Mantovani G; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Di Fonzo A; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 19; Vol. 18 (1), pp. 152. Date of Electronic Publication: 2023 Jun 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Esophageal Achalasia*/genetics
Esophageal Achalasia*/metabolism
Esophageal Achalasia*/pathology
Adrenal Insufficiency*/genetics
Adrenal Insufficiency*/metabolism
Adrenal Insufficiency*/pathology
MicroRNAs*
Humans ; Nuclear Pore Complex Proteins/genetics ; Nuclear Pore Complex Proteins/metabolism ; Down-Regulation/genetics ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Scavenger Receptors, Class B/genetics ; Scavenger Receptors, Class B/metabolism
SCR Disease Name:
Familial Glucocorticoid Deficiency 1; Achalasia Addisonianism Alacrimia syndrome
Czasopismo naukowe
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Tytuł:
Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
Autorzy:
Scarcella S; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Dell'Arti L; Ophthalmological Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Gagliardi D; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Magri F; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Govoni A; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Velardo D; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Mainetti C; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Minorini V; Ophthalmological Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Ronchi D; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Piga D; Neurology Unit, Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Comi GP; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.
Corti S; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Meneri M; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy. .; Neurology Unit, Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy. .
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Źródło:
BMC neurology [BMC Neurol] 2023 Apr 24; Vol. 23 (1), pp. 165. Date of Electronic Publication: 2023 Apr 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
MELAS Syndrome*/genetics
Optic Neuropathy, Ischemic*/complications
Acidosis, Lactic*
Stroke*/complications
Optic Nerve Diseases*/complications
Optic Atrophy, Hereditary, Leber*/genetics
Female ; Humans ; Mutation ; DNA, Mitochondrial/genetics ; Vision Disorders/complications ; Headache/complications
Czasopismo naukowe
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Tytuł:
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Autorzy:
Zanotti S; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Magri F; Neurology Unit, Department of Neuroscience Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Salani S; Neurology Unit, Department of Neuroscience Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Napoli L; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ripolone M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ronchi D; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Fortunato F; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Ciscato P; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Velardo D; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
D'Angelo MG; IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy.
Gualandi F; Medical Genetics Unit, Department of Medical Science, University of Ferrara, 44121 Ferrara, Italy.
Nigro V; Dipartimento di Medicina di Precisione, 'Luigi Vanvitelli' University of Campania and Telethon Institute of Genetics and Medicine (TIGEM), 81100 Naples, Italy.
Sciacco M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Neurology Unit, Department of Neuroscience Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Corti S; Neurology Unit, Department of Neuroscience Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Comi GP; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Piga D; Neurology Unit, Department of Neuroscience Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Mar 14; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/genetics
Muscular Dystrophies*/metabolism
Humans ; Mutation ; Extracellular Matrix/metabolism ; Phenotype ; Collagen Type VI/genetics ; Collagen Type VI/metabolism
Czasopismo naukowe
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Tytuł:
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.
Autorzy:
Manini A; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Gagliardi D; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Meneri M; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Antognozzi S; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Del Bo R; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Comi GP; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Corti S; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ronchi D; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2023 Feb 23; Vol. 13 (1), pp. 3187. Date of Electronic Publication: 2023 Feb 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Intercellular Signaling Peptides and Proteins*/genetics
Nerve Tissue Proteins*/genetics
Female ; Humans ; Male ; Middle Aged ; Alleles ; C9orf72 Protein/genetics ; China ; Italy ; Taiwan
Czasopismo naukowe
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Tytuł:
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.
Autorzy:
Manini A; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Gagliardi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Department of Neuroscience, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Meneri M; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Antognozzi S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Del Bo R; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Scaglione C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Department of Neuroscience, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Corti S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Department of Neuroscience, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Department of Neuroscience, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Nov; Vol. 9 (11), pp. 1820-1825. Date of Electronic Publication: 2022 Oct 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Huntington Disease*/diagnosis
Frontotemporal Dementia*/genetics
Humans ; Alleles ; Polymerase Chain Reaction ; Huntingtin Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Autorzy:
Magri F; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Antognozzi S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Ripolone M; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Zanotti S; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Napoli L; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Ciscato P; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Velardo D; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Scuvera G; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Woman-Child-Newborn Department, Milan, Italy.
Nicotra V; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Woman-Child-Newborn Department, Milan, Italy.
Giacobbe A; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy.
Milani D; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy.
Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Garbellini M; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Sciacco M; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Corti S; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Comi GP; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Ronchi D; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. .; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2022 Sep 29; Vol. 12 (1), pp. 23. Date of Electronic Publication: 2022 Sep 29.
Typ publikacji:
Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Choline Kinase*/genetics
Choline Kinase*/metabolism
Muscular Dystrophies*/congenital
Muscular Dystrophies*/diagnosis
Muscular Dystrophies*/genetics
Child ; Creatine Kinase ; Humans ; Male ; Muscle, Skeletal/metabolism ; Mutation ; Nucleotides/metabolism ; Phosphatidylcholines/metabolism ; Phosphatidylethanolamines/metabolism ; RNA/metabolism
Czasopismo naukowe
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Tytuł:
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
Autorzy:
Magri F; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Zanotti S; Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Salani S; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Ciscato P; Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Gerevini S; Unit of Neuroradiology, Papa Giovanni XXIII Hospital, 24127 Bergamo, Italy.
Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Sciacco M; Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Moggio M; Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Corti S; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Bresolin N; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Comi GP; Neuromuscular and Rare Disease Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Ronchi D; Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Aug 29; Vol. 23 (17). Date of Electronic Publication: 2022 Aug 29.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/pathology
Sarcoglycanopathies*/metabolism
Child ; Humans ; Morpholinos/genetics ; Morpholinos/metabolism ; Muscle, Skeletal/metabolism ; Mutation
SCR Disease Name:
Beta-sarcoglycanopathy; Limb-girdle muscular dystrophy, type 2E
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's disease.
Autorzy:
Riboldi GM; The Marlene and Paolo Fresco Institute for Parkinson's Disease and Movement Disorders, New York University Langone Health, 222 East 41st street, New York, NY, 10017, USA.
Vialle RA; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Navarro E; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.; Department of Biochemistry and Molecular Biology (Universidad Complutense de Madrid) & Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Udine E; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
de Paiva Lopes K; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Humphrey J; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
Allan A; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
Parks M; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
Henderson B; The Marlene and Paolo Fresco Institute for Parkinson's Disease and Movement Disorders, New York University Langone Health, 222 East 41st street, New York, NY, 10017, USA.
Astudillo K; The Marlene and Paolo Fresco Institute for Parkinson's Disease and Movement Disorders, New York University Langone Health, 222 East 41st street, New York, NY, 10017, USA.
Argyrou C; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
Zhuang M; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
Sikder T; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Pathology, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 15th Floor, New York, NY, 10029, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Room 9-22, New York, NY, 10029, USA.
Oriol Narcis J; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA.
Kumar SD; Microscopy Core and Advanced Bioimaging Center at the Icahn School of Medicine at Mount Sinai Center, 1468 Madison Avenue, Room 18-250, New York, NY, 10029, USA.
Janssen W; Microscopy Core and Advanced Bioimaging Center at the Icahn School of Medicine at Mount Sinai Center, 1468 Madison Avenue, Room 18-250, New York, NY, 10029, USA.
Sowa A; Department of Pathology, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 15th Floor, New York, NY, 10029, USA.
Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Via Francesco Sforza, 35, 20122, Milano, MI, Italy.
Di Fonzo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Via Francesco Sforza, 35, 20122, Milano, MI, Italy.
Crary JF; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Pathology, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 15th Floor, New York, NY, 10029, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Room 9-22, New York, NY, 10029, USA.
Frucht SJ; The Marlene and Paolo Fresco Institute for Parkinson's Disease and Movement Disorders, New York University Langone Health, 222 East 41st street, New York, NY, 10017, USA.
Raj T; Nash Family Department of Neuroscience & Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA. .; Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1137, New York, NY, 10029, USA. .; Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, ICAHN 10-70E, New York, NY, 10029-6574, USA. .
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Źródło:
Molecular neurodegeneration [Mol Neurodegener] 2022 Aug 17; Vol. 17 (1), pp. 52. Date of Electronic Publication: 2022 Aug 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Glucosylceramidase*/genetics
Glucosylceramidase*/metabolism
Parkinson Disease*/metabolism
Heterozygote ; Humans ; Monocytes/metabolism ; Mutation/genetics ; Transcriptome
Czasopismo naukowe
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Tytuł:
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Autorzy:
Cances C; AOC (Atlantic-Oceania-Caribbean) Reference Centre for Neuromuscular Disorders, Paediatric Clinical Research Unit/Paediatric Multi-Thematic Module CIC 1436, Neuropaediatric Department, Toulouse University Hospital, Toulouse, France. .; Pediatric Clinical Research Unit, Pediatric Plurithematic Module, CIC 1436, Toulouse, France. .
Vlodavets D; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia.
Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Masson R; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mazurkiewicz-Bełdzińska M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland.
Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Zanoteli E; Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Dodman A; Pharma Development Neurology, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
El-Khairi M; Roche Products Ltd, Welwyn Garden City, UK.
Gorni K; PDMA Neuroscience and Rare Disease, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Gravestock I; Personalized Healthcare Analytics, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Hoffart J; PDMA Neuroscience and Rare Disease, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Scalco RS; Pharma Development Neurology, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
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Corporate Authors:
ANCHOVY Working Group
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 29; Vol. 17 (1), pp. 300. Date of Electronic Publication: 2022 Jul 29.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood*
Asia ; Europe ; Humans ; Infant ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
Autorzy:
Coratti G; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Lenkowicz J; Fondazione Policlinico Universitario A.Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Norcia G; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Lucibello S; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Ferraroli E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
d'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy.
Bello L; Department of Neurosciences, University of Padua, Padua, Italy.
Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy.
Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy.
Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy.
Berardinelli A; IRCCS Mondino Foundation, Pavia, Italy.
Masson R; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Previtali SC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
D'angelo G; Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy.
Magri F; Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Comi GP; Dino Ferrari Centre, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy.
Passamano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy.
Vita G; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy.
Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy.
Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, Genoa, Italy.
Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health-DINOGMI, University of Genova, Genoa, Italy.
Pini A; Neuromuscular Pediatric Unit, UOC di Neuropsichiatria dell'età pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy.
Patarnello S; Fondazione Policlinico Universitario A.Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Pane M; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
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Corporate Authors:
italian DMD study group
Źródło:
PloS one [PLoS One] 2022 Jul 29; Vol. 17 (7), pp. e0271681. Date of Electronic Publication: 2022 Jul 29 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/drug therapy
Muscular Dystrophy, Duchenne*/genetics
Adrenal Cortex Hormones/therapeutic use ; Child ; Child, Preschool ; Humans ; Male ; Mutation ; Protein Isoforms/genetics
Czasopismo naukowe
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Tytuł:
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Autorzy:
Abati E; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy. .; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. .
Manini A; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.
Velardo D; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Neuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Del Bo R; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Napoli L; Neuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Rizzo F; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Moggio M; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Bresolin N; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Bellone E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (Dinogmi) - Medical Genetics, University of Genoa, Genoa, Italy.
Bassi MT; Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
D'Angelo MG; Neuromuscular Disorder Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
Comi GP; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Neuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Corti S; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło:
Scientific reports [Sci Rep] 2022 Apr 13; Vol. 12 (1), pp. 6181. Date of Electronic Publication: 2022 Apr 13.
Typ publikacji:
Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease*/diagnosis
Charcot-Marie-Tooth Disease*/genetics
GTP Phosphohydrolases*/genetics
Mitochondrial Proteins*/genetics
Cross-Sectional Studies ; Humans ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy.
Autorzy:
Ripolone M; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Velardo D; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Mondello S; Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.
Zanotti S; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Minuti E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Cazzaniga S; Italfarmaco SpA, Milan, Italy.
Fortunato F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Ciscato P; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Tiberio F; Department of Surgery, Head and Neck Area, UO Neurosurgery, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Sciacco M; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Moggio M; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
Bettica P; Italfarmaco SpA, Milan, Italy.
Comi GP; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy. giacomo.comi@unimi.it.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. giacomo.comi@unimi.it.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Apr 08; Vol. 10 (1), pp. 48. Date of Electronic Publication: 2022 Apr 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophy, Duchenne*/pathology
Biopsy ; Cohort Studies ; Humans ; Muscle, Skeletal/pathology ; Regeneration
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
Autorzy:
Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Meneri M; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Ermert ME; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Frascarelli C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Zanetti N; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Garbellini M; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Comi GP; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Neuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
Ronchi D; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
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Źródło:
Cells [Cells] 2022 Mar 12; Vol. 11 (6). Date of Electronic Publication: 2022 Mar 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Endodeoxyribonucleases*/genetics
Endodeoxyribonucleases*/metabolism
Mitochondrial Myopathies*/genetics
DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Endonucleases ; Humans ; Mitochondria/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
Autorzy:
Locci S; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy.
Cardani R; Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Milan, Italy.
Brunori P; Unit of Neurophysiopathology, Silvestrini Hospital, Perugia, Italy.
Lucchiari S; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Federico A; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy.
De Stefano N; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy.
Meola G; Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.; Department of Neurorehabilitation Sciences, Casa di Cura del Policlinico, Milan, Italy.
Mignarri A; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy. .; Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Dec; Vol. 42 (12), pp. 5365-5368. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Myotonia*/genetics
Myotonia Congenita*/complications
Myotonia Congenita*/genetics
Myotonic Dystrophy*/complications
Myotonic Dystrophy*/genetics
Chloride Channels/genetics ; Hand Strength ; Humans ; Mutation ; Myotonin-Protein Kinase
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Perspectives on hiPSC-Derived Muscle Cells as Drug Discovery Models for Muscular Dystrophies.
Autorzy:
Abati E; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Sclarandi E; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Comi GP; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Parente V; Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Corti S; Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 06; Vol. 22 (17). Date of Electronic Publication: 2021 Sep 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cell Differentiation/*physiology
Drug Discovery/*methods
Genetic Therapy/*methods
Induced Pluripotent Stem Cells/*physiology
Muscle Cells/*physiology
Muscular Dystrophies/*therapy
Animals ; Dystrophin/genetics ; Dystrophin/physiology ; Humans ; Induced Pluripotent Stem Cells/cytology ; Muscle Cells/cytology ; Muscular Dystrophies/genetics ; Muscular Dystrophy, Animal/genetics ; Muscular Dystrophy, Animal/therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Autorzy:
Coratti G; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pane M; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Brogna C; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Ricotti V; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy.
D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy.
Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Vita G; Nemo SUD Clinical Centre, University Hospital 'G. Martino', Messina, Italy.
Berardinelli A; IRCCS Mondino Foundation, Pavia, Italy.
Mazzone E; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Magri F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy.
Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, Torino, Italy.
Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bello L; Department of Neurosciences, University of Padua, Padua, Italy.
Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy.
Baranello G; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Previtali SC; Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy.
Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy.
Donati A; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy.
Hogrel JY; Institute I-Motion, Hôpital Armand Trousseau, Institute of Myology, Paris, France.
Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
De Lucia S; Institute I-Motion, Hôpital Armand Trousseau, Institute of Myology, Paris, France.
Niks E; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Servais L; Centre de Référence Des Maladies Neuromusculaires, CHU de Liège, Liège, Belgium.; Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, United Kingdom.
De Groot I; Department of Rehabilitation, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Chesshyre M; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy.
Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Muntoni F; Dubowitz Neuromuscular Centre, UCL & Great Ormond Street Hospital, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom.
Mercuri E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
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Corporate Authors:
on behalf on the International DMD Group and the iMDEX Consortium
Źródło:
PloS one [PLoS One] 2021 Jun 25; Vol. 16 (6), pp. e0253882. Date of Electronic Publication: 2021 Jun 25 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dystrophin/*genetics
Muscular Dystrophy, Duchenne/*genetics
Mutation/*genetics
Child ; Disease Progression ; Exons/genetics ; Follow-Up Studies ; Humans ; Longitudinal Studies ; Male ; Men ; Muscular Dystrophy, Duchenne/pathology ; Severity of Illness Index ; Walking/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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; Research Support, Non-U.S. Gov't
MeSH Terms:
Charcot-Marie-Tooth Disease/*genetics
Heat-Shock Proteins/*genetics
Molecular Chaperones/*genetics
Adult ; Aged ; Charcot-Marie-Tooth Disease/physiopathology ; Female ; Humans ; Male ; Mutation ; Pedigree
SCR Disease Name:
Charcot-Marie-Tooth disease, Type 2F
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Advancing Drug Discovery for Neurological Disorders Using iPSC-Derived Neural Organoids.
Autorzy:
Costamagna G; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, 20122 Milan, Italy.; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Via Francesco Sforza 35, 20122 Milan, Italy.
Comi GP; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, 20122 Milan, Italy.; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Via Francesco Sforza 35, 20122 Milan, Italy.
Corti S; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, 20122 Milan, Italy.; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Via Francesco Sforza 35, 20122 Milan, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Mar 06; Vol. 22 (5). Date of Electronic Publication: 2021 Mar 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Drug Discovery/*methods
Induced Pluripotent Stem Cells/*drug effects
Nervous System Diseases/*drug therapy
Organoids/*drug effects
Animals ; Automation ; Brain/cytology ; CRISPR-Cas Systems ; Cell Culture Techniques ; Collagen ; Drug Combinations ; Drug Evaluation, Preclinical/methods ; Drug Industry/organization & administration ; Forecasting ; High-Throughput Screening Assays ; Humans ; Induced Pluripotent Stem Cells/cytology ; Laminin ; Machine Learning ; Microscopy/methods ; Nervous System Diseases/pathology ; Proteoglycans ; RNA-Seq ; Reproducibility of Results ; Single-Cell Analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 70

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