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    Wyświetlanie 1-12 z 12
    Tytuł:
    Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
    Autorzy:
    Fortunato F; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.
    Bianchi F; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
    Ricci G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
    Torri F; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
    Gualandi F; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.
    Neri M; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.
    Farnè M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.
    Giannini F; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
    Malandrini A; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
    Volpi N; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
    Lopergolo D; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
    Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università Degli Studi Di Milano, Milan, Italy.
    Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università Degli Studi Di Milano, Milan, Italy.
    Verde F; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università Degli Studi Di Milano, Milan, Italy.
    Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Bonanno S; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Nigro V; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.
    Peduto C; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.
    D'Ambrosio P; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.
    Zeuli R; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.
    Zanobio M; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.
    Picillo E; Department of Precision Medicine, University of Campania 'L. Vanvitelli', Naples, Italy.
    Servidei S; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Primiano G; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Sancricca C; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
    Sciacco M; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
    Brusa R; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
    Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; ASST Spedali Civili Di Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.
    Cotti Piccinelli S; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; ASST Spedali Civili Di Brescia, Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.
    Pegoraro E; Department of Neuroscience, University of Padova, Padua, Italy.
    Mongini T; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
    Solero L; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
    Gadaleta G; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
    Brusa C; Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
    Minetti C; Pediatric Neurology Unit and Muscle Unit, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
    Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
    Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
    Sansone VA; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy.; Neurorehabilitation Unit, University of Milan, Milan, Italy.
    Lunetta C; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy.
    Zanolini A; The NEMO (NEuroMuscular Omniservice) Clinical Center, Milan, Italy.
    Toscano A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; ERN-NMD Center of Messina, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
    Pugliese A; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
    Nicocia G; Neurology and Neuromuscular Diseases Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
    Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
    Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
    Diodato D; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
    Atalaia A; Service of Neuromyology, APHP-GH Pitié-Salpêtrière, Sorbonne Université, Paris, France.
    Evangelista T; Neuromuscular Morphology Unit, Institute of Myology, GHU Pitié-Salpêtrière, Sorbonne Université, Paris, France.
    Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
    Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy. .; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 196. Date of Electronic Publication: 2023 Jul 21.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Information Dissemination*
    Rare Diseases*
    Humans ; Pilot Projects ; Europe ; European Union
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.
    Autorzy:
    Ghirardo S; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. .
    Sabatini L; University Department of Pediatrics, Bambino Gesù Children's Hospital IRCCS, University of Rome Tor Vergata, Rome, Italy.
    Onofri A; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
    Testa MBC; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
    Paglietti MG; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
    Diodato D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Travaglini L; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Stregapede F; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Ciofi Degli Atti ML; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
    Cherchi C; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
    Cutrera R; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
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    Źródło:
    Italian journal of pediatrics [Ital J Pediatr] 2022 Sep 07; Vol. 48 (1), pp. 167. Date of Electronic Publication: 2022 Sep 07.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Hypercapnia*/diagnosis
    Hypercapnia*/etiology
    Hypercapnia*/therapy
    Rett Syndrome*/complications
    Rett Syndrome*/diagnosis
    Rett Syndrome*/therapy
    Female ; Humans ; Hypoventilation/diagnosis ; Hypoventilation/therapy ; Infant ; Muscle Hypotonia ; Sleep
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
    Autorzy:
    Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy. .
    Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
    Diodato D; Muscular and Neurodegenerative Disease Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
    Donati A; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
    Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122, Milan, Italy.
    Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
    Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
    Martinelli D; Metabolic Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
    Primiano G; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italia.
    Procopio E; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
    Rubegni A; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
    Santorelli F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
    Schiaffino MC; Pediatric Clinic IRCCS Istituto Giannina Gaslini, Genova, Italia.
    Servidei S; UOC Neurofisiopatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italia.
    Tubili F; Metabolic and Neuromuscular Unit, Meyer Children Hospital-University of Florence, Florence, Italy.
    Bertini E; Muscular and Neurodegenerative Disease Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
    Moroni I; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 09; Vol. 16 (1), pp. 413. Date of Electronic Publication: 2021 Oct 09.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Leigh Disease*/diagnosis
    Leigh Disease*/genetics
    Mitochondrial Diseases*
    Humans ; Italy ; Membrane Proteins/genetics ; Mitochondrial Proteins/genetics ; Mutation/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
    Autorzy:
    Olivieri G; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
    Pro S; Neurophysiology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy.
    Diodato D; Laboratory of Molecular Medicine, Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Di Capua M; Neurophysiology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy.
    Longo D; Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRRCS, Rome, Italy.
    Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
    Bertini E; Laboratory of Molecular Medicine, Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Dionisi-Vici C; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Aug 23; Vol. 14 (1), pp. 208. Date of Electronic Publication: 2019 Aug 23.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Hyperammonemia/*metabolism
    Hyperammonemia/*pathology
    Ornithine/*deficiency
    Urea Cycle Disorders, Inborn/*metabolism
    Urea Cycle Disorders, Inborn/*pathology
    Adolescent ; Adult ; Brain/metabolism ; Brain/physiology ; Child ; Female ; Humans ; Hyperammonemia/physiopathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation/genetics ; Neural Conduction/physiology ; Ornithine/metabolism ; Spastic Paraplegia, Hereditary/metabolism ; Spastic Paraplegia, Hereditary/pathology ; Spastic Paraplegia, Hereditary/physiopathology ; Spinal Cord/metabolism ; Spinal Cord/physiology ; Urea Cycle Disorders, Inborn/physiopathology ; Young Adult
    SCR Disease Name:
    HHH syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
    Autorzy:
    Begliuomini C; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy. .
    Magli G; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.
    Di Rocco M; Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Via Gerolamo Gaslini, 5, 16147, Genoa, Italy.
    Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Viale del Tirreno, 331 56018 Calambrone, Pisa, Italy.
    Cassandrini D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Viale del Tirreno, 331 56018 Calambrone, Pisa, Italy.
    Nesti C; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Viale del Tirreno, 331 56018 Calambrone, Pisa, Italy.
    Deodato F; Metabolic Division, 'Bambino Gesu' Children's Research Hospital, Piazza di Sant'Onofrio4, 00165, Rome, Italy.
    Diodato D; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesu' Children's Research Hospital, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
    Casellato S; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.
    Simula DM; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.
    Dessì V; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.
    Eusebi A; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.
    Carta A; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.; Child Psychiatry Unit, Department of Neuroscience, 'Bambino Gesù' Children's Research Hospital, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
    Sotgiu S; Unit of Child Neuropsychiatry Residency Program, University Hospital of Sassari, Viale San Pietro 43/B, I-07100, Sassari, Italy.
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2019 May 07; Vol. 20 (1), pp. 77. Date of Electronic Publication: 2019 May 07.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    HLA Antigens/*genetics
    Mitochondrial Encephalomyopathies/*genetics
    Valine-tRNA Ligase/*genetics
    Child ; Child, Preschool ; Electroencephalography ; Female ; Homozygote ; Humans ; Magnetic Resonance Imaging ; Mitochondrial Encephalomyopathies/diagnostic imaging ; Mitochondrial Encephalomyopathies/physiopathology ; Mutation ; Phenotype
    SCR Disease Name:
    Mitochondrial encephalopathy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Expanding the clinical phenotype of IARS2-related mitochondrial disease.
    Autorzy:
    Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany. .; Department of Otorhinolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre (THRC), Eberhard Karls University Tübingen, 72076, Tübingen, Germany. .
    Maroofian R; Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
    Bellacchio E; Genetics and Rare Diseases, Research Division, 'Bambino Gesù' Children Hospital, Rome, Italy.
    Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.
    Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
    Alahmad A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
    He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
    Ahangari N; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Next Generation Genetic Clinic, Mashhad, Iran.
    Rad A; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.
    Shahrokhzadeh S; Next Generation Genetic Clinic, Mashhad, Iran.
    Bahena P; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
    Mittag F; Department of Orthopaedic Surgery, University Hospital of Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany.
    Traub F; Department of Orthopaedic Surgery, University Hospital of Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany.
    Movaffagh J; Targeted Drug Delivery Research Center, Pharmaceutical Technology Institute, University of Medical Sciences, Mashhad, Iran.
    Amiri N; Targeted Drug Delivery Research Center, Pharmaceutical Technology Institute, University of Medical Sciences, Mashhad, Iran.
    Doosti M; Next Generation Genetic Clinic, Mashhad, Iran.
    Boostani R; Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
    Shirzadeh E; Sabzevar University of Medical Sciences, Sabzevar, Iran.
    Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
    Diodato D; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesu' Children's Research Hospital, Rome, Italy.
    Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Faculty of Medicine, Mathildenstrasse 1, 79112, Freiburg, Germany.
    Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
    Karimiani EG; Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK. .; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. .
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2018 Nov 12; Vol. 19 (1), pp. 196. Date of Electronic Publication: 2018 Nov 12.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Bone Diseases, Developmental/*genetics
    Cataract/*genetics
    Hearing Loss, Sensorineural/*genetics
    Hereditary Sensory and Autonomic Neuropathies/*genetics
    Isoleucine-tRNA Ligase/*genetics
    Leigh Disease/*genetics
    Mitochondrial Diseases/*genetics
    Adult ; Amino Acid Sequence ; Bone Diseases, Developmental/diagnosis ; Bone Diseases, Developmental/pathology ; Cataract/diagnosis ; Cataract/pathology ; Consanguinity ; Female ; Gene Expression ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/pathology ; Hereditary Sensory and Autonomic Neuropathies/diagnosis ; Hereditary Sensory and Autonomic Neuropathies/pathology ; Homozygote ; Humans ; Leigh Disease/diagnosis ; Leigh Disease/pathology ; Male ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/pathology ; Models, Molecular ; Mutation, Missense ; Pedigree ; Protein Conformation ; Protein Subunits/genetics ; Syndrome ; Exome Sequencing
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
    Autorzy:
    Repp BM; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
    Mastantuono E; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
    Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
    Schiff M; UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, 75019, Paris, France.; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 75019, Paris, France.
    Haack TB; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
    Rötig A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015, Paris, France.
    Ardissone A; Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico 'Carlo Besta', Milan, Italy.; Child Neurology, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.; Department of Molecular and Translational Medicine DIMET, University of Milan-Bicocca, Milan, Italy.
    Lombès A; INSERM U1016, Institut Cochin, Paris, France.
    Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.
    Diodato D; Muscular and Neurodegenerative Disorders Unit, Bambino Gesu´ Children's Hospital, IRCCS, Rome, Italy.
    Schottmann G; NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
    Poulton J; Nuffield Department of Women's and Reproductive Health, University of Oxford, The Women's Centre, John Radcliffe Hospital, Oxford, UK.
    Burlina A; Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy.
    Jonckheere A; Department of Pediatrics, Antwerp University Hospital, Edegem, Belgium.
    Munnich A; UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015, Paris, France.
    Rolinski B; ELBLAB GmbH, Riesa, Germany.
    Ghezzi D; Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico 'Carlo Besta', Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
    Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
    Wellesley D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
    Martinelli D; Genetics and Rare Diseases Research Division, Unit of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
    Wenhong D; Department of Pediatric cardiology, Beijing Anzhe Hospital, Captital Medical University, Beijing, China.
    Lamantea E; Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico 'Carlo Besta', Milan, Italy.
    Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.
    Pronicka E; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
    Pierre G; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, BS1 3NU, UK.
    Smeets HJM; Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
    Wittig I; Functional Proteomics, SFB 815 Core Unit, Faculty of Medicine, Goethe-University, Frankfurt am Main, Germany.
    Scurr I; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
    de Coo IFM; Department of Neurology, Erasmus MC, Rotterdam, Netherlands.; Department of Clinical Genetics, Research School GROW, Maastricht University Medical Centre, Maastricht, The Netherlands.
    Moroni I; Child Neurology, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
    Smet J; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, De Pintelaan, Ghent, Belgium.
    Mayr JA; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
    Dai L; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
    de Meirleir L; Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium.; Department of Pediatric Neurology, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
    Schuelke M; NeuroCure Clinical Research Center (NCRC), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
    Zeviani M; MRC-Mitochondrial Biology Unit, Cambridge, Cambridgeshire, UK.
    Morscher RJ; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
    McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
    Seneca S; Center for Medical Genetics, UZ Brussel, Research Group Reproduction and Genetics (REGE), Vrije Universiteit Brussel, Brussels, Belgium.
    Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.
    Meitinger T; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
    Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
    Strom TM; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
    Herberg U; Department of Pediatric Cardiology, University of Bonn, Bonn, Germany.
    Ahting U; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.
    Sperl W; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
    Nassogne MC; Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
    Ling H; Department of Pediatric cardiology, Beijing Anzhe Hospital, Captital Medical University, Beijing, China.
    Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
    Freisinger P; Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany.
    Van Coster R; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, De Pintelaan, Ghent, Belgium.
    Strecker V; Functional Proteomics, SFB 815 Core Unit, Faculty of Medicine, Goethe-University, Frankfurt am Main, Germany.
    Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
    Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
    Vockley J; Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, USA.
    Prokisch H; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
    Wortmann S; Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany. .; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany. .; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 19; Vol. 13 (1), pp. 120. Date of Electronic Publication: 2018 Jul 19.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Acidosis/*genetics
    Acidosis/*metabolism
    Acyl-CoA Dehydrogenase/*deficiency
    Amino Acid Metabolism, Inborn Errors/*genetics
    Amino Acid Metabolism, Inborn Errors/*metabolism
    Cardiomyopathy, Hypertrophic/*genetics
    Cardiomyopathy, Hypertrophic/*metabolism
    Mitochondrial Diseases/*genetics
    Mitochondrial Diseases/*metabolism
    Muscle Weakness/*genetics
    Muscle Weakness/*metabolism
    Riboflavin/*therapeutic use
    Acidosis/pathology ; Activities of Daily Living ; Acyl-CoA Dehydrogenase/genetics ; Acyl-CoA Dehydrogenase/metabolism ; Amino Acid Metabolism, Inborn Errors/pathology ; Cardiomyopathy, Hypertrophic/pathology ; Electron Transport Complex I/metabolism ; Female ; Humans ; Male ; Mitochondrial Diseases/pathology ; Muscle Weakness/drug therapy ; Muscle Weakness/pathology ; Prognosis
    SCR Disease Name:
    Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
    Autorzy:
    Nasca A; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy.
    Rizza T; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Doimo M; Department of Woman and Child Health, Clinical Genetics Unit, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
    Legati A; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy.
    Ciolfi A; Division of Genetics and Rare Diseases, Molecular Genetics and Genomics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Diodato D; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Calderan C; Department of Woman and Child Health, Clinical Genetics Unit, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
    Carrara G; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy.
    Lamantea E; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy.
    Aiello C; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Niceta M; Division of Genetics and Rare Diseases, Molecular Genetics and Genomics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Lamperti C; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy.
    Ardissone A; Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133, Milan, Italy.
    Bianchi-Marzoli S; Department of Ophthalmology, Neuro-ophthalmology Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.
    Iarossi G; Department of Ophthalmology, Bambino Gesù IRCSS Children's Hospital, Rome, Italy.
    Bertini E; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Moroni I; Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133, Milan, Italy.
    Tartaglia M; Division of Genetics and Rare Diseases, Molecular Genetics and Genomics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Salviati L; Department of Woman and Child Health, Clinical Genetics Unit, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatria, IRP, Città della Speranza, Padova, Italy.
    Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Ghezzi D; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', via Temolo 4, 20126, Milan, Italy. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 May 12; Vol. 12 (1), pp. 89. Date of Electronic Publication: 2017 May 12.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Brain Diseases/*genetics
    GTP Phosphohydrolases/*genetics
    Optic Atrophy/*genetics
    Optic Atrophy, Autosomal Dominant/*genetics
    Blotting, Western ; Brain Diseases/metabolism ; Child, Preschool ; Electrophysiology ; GTP Phosphohydrolases/metabolism ; Humans ; Infant ; Male ; Microscopy, Fluorescence ; Mutation ; Optic Atrophy/metabolism ; Optic Atrophy, Autosomal Dominant/metabolism ; Tomography, Optical Coherence ; Exome Sequencing
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Autorzy:
    Martinelli D
    Diodato D
    Ponzi E
    Monné M
    Boenzi S
    Bertini E
    Fiermonte G
    Dionisi-Vici C
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Mar 11; Vol. 10, pp. 29. Date of Electronic Publication: 2015 Mar 11.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review; Systematic Review
    MeSH Terms:
    Hyperammonemia/*genetics
    Hyperammonemia/*pathology
    Ornithine/*deficiency
    Urea Cycle Disorders, Inborn/*genetics
    Urea Cycle Disorders, Inborn/*pathology
    Aging ; Humans ; Hyperammonemia/diagnosis ; Mutation ; Origin Recognition Complex/genetics ; Origin Recognition Complex/metabolism ; Ornithine/genetics ; Protein Conformation ; Urea Cycle Disorders, Inborn/diagnosis
    SCR Disease Name:
    HHH syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
    Autorzy:
    Sampaolo S; Department of Medical Sciences, Surgery, Neurological, Metabolic and Aging, Second University of Naples, Naples, Italy. .
    Esposito T
    Farina O
    Formicola D
    Diodato D
    Gianfrancesco F
    Cipullo F
    Cremone G
    Cirillo M
    Del Viscovo L
    Toscano A
    Angelini C
    Di Iorio G
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Oct 10; Vol. 8, pp. 159. Date of Electronic Publication: 2013 Oct 10.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Glycogen Storage Disease Type II/*genetics
    alpha-Glucosidases/*genetics
    Adolescent ; Adult ; Bone Density ; Child ; Electrophysiology ; Genetic Predisposition to Disease/genetics ; Genotype ; Glycogen Storage Disease Type II/metabolism ; Glycogen Storage Disease Type II/pathology ; Humans ; Mutation ; Pedigree ; Phenotype ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
    Autorzy:
    Esposito T; Institute of Genetics and Biophysics, National Research Council of Italy, Naples, Italy. />Sampaolo S
    Limongelli G
    Varone A
    Formicola D
    Diodato D
    Farina O
    Napolitano F
    Pacileo G
    Gianfrancesco F
    Di Iorio G
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Jun 21; Vol. 8, pp. 91. Date of Electronic Publication: 2013 Jun 21.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Mutation, Missense*
    Antigens, CD/*genetics
    Cardiac Myosins/*genetics
    Cardiomyopathies/*genetics
    Cardiomyopathies/*physiopathology
    Heart Ventricles/*abnormalities
    Integrin alpha Chains/*genetics
    Myosin Heavy Chains/*genetics
    Myotonia Congenita/*genetics
    Myotonia Congenita/*physiopathology
    Adolescent ; Amino Acid Sequence ; Antigens, CD/chemistry ; Cardiac Myosins/chemistry ; Cardiomyopathies/etiology ; Child ; Child, Preschool ; Exome ; Female ; Humans ; Integrin alpha Chains/chemistry ; Italy ; Male ; Middle Aged ; Molecular Sequence Data ; Myosin Heavy Chains/chemistry ; Myotonia Congenita/etiology ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.
    Autorzy:
    Formicola D; Institute of Genetics and Biophysics, Italian National Research Council, Naples, Italy.
    Aloia A
    Sampaolo S
    Farina O
    Diodato D
    Griffiths LR
    Gianfrancesco F
    Di Iorio G
    Esposito T
    Pokaż więcej
    Źródło:
    BMC medical genetics [BMC Med Genet] 2010 Jun 25; Vol. 11, pp. 103. Date of Electronic Publication: 2010 Jun 25.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Polymorphism, Single Nucleotide*
    Migraine Disorders/*genetics
    Receptors, AMPA/*genetics
    Female ; Genetic Predisposition to Disease ; Humans ; Male ; Regulatory Sequences, Nucleic Acid
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-12 z 12

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