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Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

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Title: Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Authors: Borgia P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Baldassari S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Pedemonte N; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Alkhunaizi E; Department of Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada., D'Onofrio G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Calì E; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Scudieri P; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy., Musante I; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Diana MC; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Pedemonte M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Vari MS; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Iacomino M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Chimenz R; Unit of Pediatric Nephrology and Dialysis, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy., Mangano GD; Department Pro.M.I.S.E. 'G. D'Alessandro', University of Palermo, Palermo, Italy., Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW170RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Schiaffino MC; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy., Maghnie M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy., Soler MA; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy., Echiverri K; Departments of Neurology and Ophthalmology, University of Kentucky, Lexington, 40506, USA., Abrams CK; Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL, 60607, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy., Fortuna S; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. chiarafiorillo@gaslini.org.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. chiarafiorillo@gaslini.org., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK. v.salpietro@ucl.ac.uk.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy. v.salpietro@ucl.ac.uk.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 19; Vol. 17 (1), pp. 286. Date of Electronic Publication: 2022 Jul 19.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1750-1172
DOI:10.1186/s13023-022-02415-5