New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

• Mustafa A. Salih,

  Affiliation Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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• Emeline Mundwiller,

  Affiliation Institut du Cerveau et de la Moelle épinière (ICM), Genotyping and Sequencing Facility, Groupe Hospitalier Pitié-Salpêtrière (GHPS), Paris, France

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• Arif O. Khan,

  Affiliation Division of Paediatrics Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

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• Abdulmajeed AlDrees,

  Affiliation Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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• Salah A. Elmalik,

  Affiliation Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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• Hamdy H. Hassan,

  Affiliation Department of Radiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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• Mohammed Al-Owain,

  Affiliation Department of Medical Genetics, King Faisal specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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• Hisham M. S. Alkhalidi,

  Affiliation Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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• Istvan Katona,

  Affiliation Institut für Neuropathologie, Universitätsklinikum der RWTH, Aachen, Germany

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• Mohammad M. Kabiraj,

  Affiliation Department of Neurosciences, Armed Forces Hospital, Riyadh, Saudi Arabia

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• Roman Chrast,

  Affiliation Department of Medical Genetics, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

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• Amal Y. Kentab,

  Affiliation Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

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• Hamad Alzaidan,

  Affiliation Department of Medical Genetics, King Faisal specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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• Richard J. Rodenburg,

  Affiliation Radboud University Medical Center, Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Department of Laboratory Medicine, 774 Laboratory for Genetic, Endocrine and Metabolic disorders (LGEM), Nijmegen, The Netherlands

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• Thomas M. Bosley,

  Affiliations Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, Neurology Division, Cooper University Hospital, Camden, New Jersey, USA

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• Joachim Weis,

  Affiliation Institut für Neuropathologie, Universitätsklinikum der RWTH, Aachen, Germany

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• Michel Koenig,

  Affiliation Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)/Institut National de la Santé et de la Recherche Médicale (INSERM)/Université de Strasbourg, et Collège de France, Illkirch, France

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• Giovanni Stevanin ,

  Contributed equally to this work with: Giovanni Stevanin, Hamid Azzedine

  Affiliations Institut du Cerveau et de la Moelle épinière (ICM), Genotyping and Sequencing Facility, Groupe Hospitalier Pitié-Salpêtrière (GHPS), Paris, France, École Pratique des Hautes Etudes (EPHE), Paris, France, INSERM-U975, Paris, France, CNRS-UMR (Unité mixte de Recherche) 7225, Paris, France, Université Pierre et Marie Curie – Paris 6, (UMR-S)_975, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière (cricm), Groupe Hospitalier Pitié-Salpêtrière (GHPS), Paris, France, Assistance Publique des Hôpitaux de Paris (APHP), département de Génétique et Cytogénétique, GHPS, Paris, France

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•  [ ... ],
• Hamid Azzedine

  Contributed equally to this work with: Giovanni Stevanin, Hamid Azzedine

  * E-mail: Hamid.Azzeddine@yahoo.fr

  Affiliation Department of Medical Genetics, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

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