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Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Wang, Julia; Rousseau, Justine; Kim, Emily; Ehresmann, Sophie; Cheng, Yi-Ting; Duraine, Lita; Zuo, Zhongyuan; Park, Ye-Jin; Li-Kroeger, David; Bi, Weimin; Wong, Lee-Jun; Rosenfeld, Jill; Gleeson, Joseph; Faqeih, Eissa; Alkuraya, Fowzan S; Wierenga, Klaas J; Chen, Jiani; Afenjar, Alexandra; Nava, Caroline; Doummar, Diane; Keren, Boris; Juusola, Jane; Grompe, Markus; Bellen, Hugo J; Campeau, Philippe M.
Afiliación
  • Wang J; Program in Developmental Biology, Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rousseau J; Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Kim E; Biochemistry and Cell Biology, Rice University, Houston, TX 77005, USA.
  • Ehresmann S; Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.
  • Cheng YT; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Duraine L; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zuo Z; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Park YJ; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Li-Kroeger D; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gleeson J; Rady Institute of Genomic Medicine, University of California San Diego, La Jolla, CA 92093, USA.
  • Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, 11525, Saudi Arabia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 11525, Saudi Arabia.
  • Wierenga KJ; Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 26901, USA; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
  • Chen J; Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 26901, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Afenjar A; Assistance Publique des Hôpitaux de Paris, Unité de Génétique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012, France; Département de Génétique et Embryologie Médicale, CRMR des Malformations et Maladies Congénitales du Cervelet, GRC ConCer-LD, Sorbonne Universités,
  • Nava C; Assistance Publique des Hôpitaux de Paris, Unité de Génétique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012, France.
  • Doummar D; Assistance Publique des Hôpitaux de Paris, Service de Neuropédiatrie, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012 France.
  • Keren B; Assistance Publique des Hôpitaux de Paris, Unité de Génétique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire Paris, 75012, France.
  • Juusola J; GeneDx, Inc., Gaithersburg, MD 20877, USA.
  • Grompe M; Department of Pediatrics, Oregon Health and Science University, Portland, Oregon 97201, USA; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA.
  • Bellen HJ; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes
  • Campeau PM; Centre Hospitalier Universitaire Saint-Justine Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada. Electronic address: p.campeau@umontreal.ca.
Am J Hum Genet ; 105(6): 1237-1253, 2019 12 05.
Article en En | MEDLINE | ID: mdl-31785787
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia / Enfermedades Cerebelosas / Estrés Oxidativo / Proteínas Mitocondriales / Lisosomas / Enfermedades del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia / Enfermedades Cerebelosas / Estrés Oxidativo / Proteínas Mitocondriales / Lisosomas / Enfermedades del Sistema Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article