المؤلفون: Rogac M, Neubauer D, Leonardis L, Pecaric N, Meznaric M, Maver A, Sperl W, Garavaglia BM, Lamantea E, Peterlin B

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 5-14 (2022)

مصطلحات موضوعية: exome-sequencing, magnetic resonance imaging (mri), mitochondrial disease (md), nijmegen mitochondrial disease criteria (mdc), muscle biopsy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/285c4e26ee0b411688311fb7e252d1ce

المؤلفون: Rogac, M, Neubauer, D, Leonardis, L, Pecaric, N, Meznaric, M, Maver, A, Sperl, W, Garavaglia, BM, Lamantea, E, Peterlin, B

المصدر: Balkan Journal of Medical Genetics; 2021, Vol. 24 Issue 2, p5-14, 10p

مصطلحات موضوعية: PYRUVATE dehydrogenase complex, JUVENILE diseases, EXCEPTIONAL children, NEUROLOGICAL disorders, CYTOCHROME oxidase, NEUROLOGIC examination

مصطلحات جغرافية: SLOVENIA

المؤلفون: Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Capuano A; Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Pedace L; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Travaglini L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Andreani M; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Invernizzi F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy., Reale C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy., Panteghini C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy., Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Prontera P; Maternal-Infantile Department, University Hospital of Perugia, Perugia, Italy., Garibaldi M; Department of Neuroscience, NESMOS, Sapienza University, Sant'Andrea Hospital, Rome, Italy., Galosi S; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy., Leuzzi V; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy., Soliveri P; Department of Neurology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy., Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Zorzi GS; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy., Garavaglia BM; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada. bekim.sadikovic@lhsc.on.ca.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada. bekim.sadikovic@lhsc.on.ca.; Molecular Diagnostics Division, London Health Sciences Centre, London, Canada. bekim.sadikovic@lhsc.on.ca.

المصدر: Clinical epigenetics [Clin Epigenetics] 2021 Aug 11; Vol. 13 (1), pp. 157. Date of Electronic Publication: 2021 Aug 11.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation/*genetics , Dystonic Disorders/*complications , Dystonic Disorders/*genetics , Dystonic Disorders/*physiopathology , Histone-Lysine N-Methyltransferase/*genetics , Histone-Lysine N-Methyltransferase/*metabolism, Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Cohort Studies ; Epigenesis, Genetic ; Female ; Genetic Variation ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation ; Phenotype