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Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia, Paola; Baldassari, Simona; Pedemonte, Nicoletta; Alkhunaizi, Ebba; D'Onofrio, Gianluca; Tortora, Domenico; Calì, Elisa; Scudieri, Paolo; Balagura, Ganna; Musante, Ilaria; Diana, Maria Cristina; Pedemonte, Marina; Vari, Maria Stella; Iacomino, Michele; Riva, Antonella; Chimenz, Roberto; Mangano, Giuseppe D; Mohammadi, Mohammad Hasan; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Accogli, Andrea; Schiaffino, Maria Cristina; Maghnie, Mohamad; Soler, Miguel Angel; Echiverri, Karl; Abrams, Charles K; Striano, Pasquale; Fortuna, Sara; Maroofian, Reza; Houlden, Henry; Zara, Federico; Fiorillo, Chiara; Salpietro, Vincenzo.
Afiliação
  • Borgia P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Baldassari S; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
  • Pedemonte N; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Alkhunaizi E; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • D'Onofrio G; Department of Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada.
  • Tortora D; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Calì E; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
  • Scudieri P; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Balagura G; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.
  • Musante I; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Diana MC; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Pedemonte M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Vari MS; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
  • Iacomino M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
  • Riva A; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
  • Chimenz R; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Mangano GD; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Mohammadi MH; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
  • Toosi MB; 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.
  • Ashrafzadeh F; Department Pro.M.I.S.E. "G. D'Alessandro", University of Palermo, Palermo, Italy.
  • Imannezhad S; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.
  • Karimiani EG; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Accogli A; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Schiaffino MC; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Maghnie M; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW170RE, UK.
  • Soler MA; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
  • Echiverri K; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.
  • Abrams CK; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Striano P; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy.
  • Fortuna S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Maroofian R; Pediatric Clinic and Endocrinology Unit, Department of General and Specialist Pediatric Sciences, University of Genoa, 16147, Genoa, Italy.
  • Houlden H; Computational Modelling of Nanoscale and Biophysical Systems Laboratory, Italian Institute of Technology, 16163, Genoa, Italy.
  • Zara F; Departments of Neurology and Ophthalmology, University of Kentucky, Lexington, 40506, USA.
  • Fiorillo C; Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL, 60607, USA.
  • Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
Orphanet J Rare Dis ; 17(1): 286, 2022 07 19.
Article em En | MEDLINE | ID: mdl-35854306
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Zellweger Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Zellweger Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália