The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study
Year: 2025
Type: article
Language: en
Topic: Neurogenetic and Muscular Disorders Research
Authors and affiliations:
raw_author_name: Adam Le
raw_affiliation_strings: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
raw_author_name: Kelly-Ann Thibault
raw_affiliation_strings: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada
raw_author_name: Pouneh Amir Yazdani
raw_affiliation_strings: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada
raw_author_name: Alexandra Chapleau
raw_affiliation_strings: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada
raw_author_name: Romy J. van Voorst
raw_affiliation_strings: Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands
raw_author_name: Enrico Bertini
raw_affiliation_strings: Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Lazio, Italy
raw_author_name: Francesco Nicita
raw_affiliation_strings: Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Lazio, Italy
raw_author_name: Daniela Pohl
raw_affiliation_strings: Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada
raw_author_name: Sunita Venkateswaran
raw_affiliation_strings: Division of Neurology, Department of Pediatrics, Children's Hospital, London Health Sciences Center, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
raw_author_name: Stephanie Keller
raw_affiliation_strings: Division of Pediatric Neurology, Department of Pediatrics, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia
raw_author_name: Deborah Renaud
raw_affiliation_strings: Departments of Neurology and Pediatrics, Mayo Clinic College of Medicine and Science, Rochester, Minnesota
raw_author_name: Dolores Gonzalez Moron
raw_affiliation_strings: Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET-Universidad Austral, Buenos Aires, Argentina
raw_author_name: Marcelo Kauffman
raw_affiliation_strings: Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET-Universidad Austral, Buenos Aires, Argentina
raw_author_name: Danilo De Assis Pereira
raw_affiliation_strings: Division of Pediatric Neurology, Department of Human Reproduction and Childhood, Pontifical Catholic University of São Paulo (PUC-SP), São Paulo, Brazil; Division of Pediatric Neurology, Department of Human Reproduction and Childhood, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil
raw_author_name: Adeline Vanderver
raw_affiliation_strings: Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
raw_author_name: Marjo S. van der Knaap
raw_affiliation_strings: Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
raw_author_name: Maxime Morsa
raw_affiliation_strings: Adaptation, Resilience, and Change Research Unit, Department of Psychology, Université de Liège, Belgium
raw_author_name: Geneviève Bernard
raw_affiliation_strings: Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Department of Pediatrics, McGill University, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, Québec, Canada. Electronic address: genevieve.bernard@mcgill.ca