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Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

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Title: Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.
Authors: Nagaraj V; The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway., Thomas QH; INSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France., Nóbrega PR; Department of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil., Rodriguez Gil JL; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA.; Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University, CA., Garavatti E; Center for Neonatal Research, Children's Hospital Orange County, CA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, United Kingdom., Amaral S; Department of Neurology, Dijon University Hospital, France., Ng TC; The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway., Inder T; Center for Neonatal Research, Children's Hospital Orange County, CA., Gao J; Center for the Investigation of Membrane Excitability Diseases, and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO., Matreyek KA; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH., Castro MAA; Department of Neurology, University of Sao Paulo School of Medicine, Brazil., Kok F; Department of Neurology, University of Sao Paulo School of Medicine, Brazil., Sakata MT; Genética Médica e Forense, Campinas, Brazil., Lima PLGSB; Department of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil., Pessoa ALS; Department of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil., Safraou H; INSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.; Unité Fonctionnelle 6254 Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, France., Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA.; Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University, CA., Nichols CG; Department of Neurology, Dijon University Hospital, France., van Haaften G; Department of Genetics, University Medical Center, Utrecht, the Netherlands., Tran Mau-Them F; INSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.; Unité Fonctionnelle 6254 Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, France., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway; and.; Institute of Clinical Medicine, UiT The Arctic University of Norway, Tromsø., McClenaghan C; The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.
Source: Neurology. Genetics [Neurol Genet] 2026 Jun 10; Vol. 12 (4), pp. e200385. Date of Electronic Publication: 2026 Jun 10 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Nagaraj+V%22">Nagaraj V</searchLink>; The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.<br /><searchLink fieldCode="AU" term="%22Thomas+QH%22">Thomas QH</searchLink>; INSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Nóbrega+PR%22">Nóbrega PR</searchLink>; Department of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Rodriguez+Gil+JL%22">Rodriguez Gil JL</searchLink>; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA.; Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University, CA.<br /><searchLink fieldCode="AU" term="%22Garavatti+E%22">Garavatti E</searchLink>; Center for Neonatal Research, Children's Hospital Orange County, CA.<br /><searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Amaral+S%22">Amaral S</searchLink>; Department of Neurology, Dijon University Hospital, France.<br /><searchLink fieldCode="AU" term="%22Ng+TC%22">Ng TC</searchLink>; The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.<br /><searchLink fieldCode="AU" term="%22Inder+T%22">Inder T</searchLink>; Center for Neonatal Research, Children's Hospital Orange County, CA.<br /><searchLink fieldCode="AU" term="%22Gao+J%22">Gao J</searchLink>; Center for the Investigation of Membrane Excitability Diseases, and Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO.<br /><searchLink fieldCode="AU" term="%22Matreyek+KA%22">Matreyek KA</searchLink>; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH.<br /><searchLink fieldCode="AU" term="%22Castro+MAA%22">Castro MAA</searchLink>; Department of Neurology, University of Sao Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Department of Neurology, University of Sao Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Sakata+MT%22">Sakata MT</searchLink>; Genética Médica e Forense, Campinas, Brazil.<br /><searchLink fieldCode="AU" term="%22Lima+PLGSB%22">Lima PLGSB</searchLink>; Department of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Pessoa+ALS%22">Pessoa ALS</searchLink>; Department of Clinical Medicine, Universidade Federal do Ceará, Rua Alexandre Baraúna, Fortaleza - Ceará, Brazil.<br /><searchLink fieldCode="AU" term="%22Safraou+H%22">Safraou H</searchLink>; INSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.; Unité Fonctionnelle 6254 Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, France.<br /><searchLink fieldCode="AU" term="%22Bernstein+JA%22">Bernstein JA</searchLink>; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA.; Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University, CA.<br /><searchLink fieldCode="AU" term="%22Nichols+CG%22">Nichols CG</searchLink>; Department of Neurology, Dijon University Hospital, France.<br /><searchLink fieldCode="AU" term="%22van+Haaften+G%22">van Haaften G</searchLink>; Department of Genetics, University Medical Center, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Tran+Mau-Them+F%22">Tran Mau-Them F</searchLink>; INSERM UMR1231 Team GAD, F-21000, Université de Bourgogne Europe, Dijon, France.; Unité Fonctionnelle 6254 Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, France.<br /><searchLink fieldCode="AU" term="%22Smeland+MF%22">Smeland MF</searchLink>; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway; and.; Institute of Clinical Medicine, UiT The Arctic University of Norway, Tromsø.<br /><searchLink fieldCode="AU" term="%22McClenaghan+C%22">McClenaghan C</searchLink>; The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.
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