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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

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Title: Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Authors: Paiva ARB; Mendelics Genomic Analysis, São Paulo, SP, Brazil arbrandaopaiva@gmail.com.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Hospital São Rafael - Rede D'or São Luiz, Salvador, BA, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil.; Universidade Estadual do Ceara, Fortaleza, CE, Brazil., Nóbrega PR; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Universidade Federal do Ceará, Fortaleza, CE, Brazil., Moreno CAM; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Lynch DS; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Taniguti LM; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Freua F; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Beneficência Portuguesa de São Paulo, São Paulo, SP, Brazil., Della-Ripa B; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Cunha P; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Institut du Cerveau (ICM), APHP, Pitié Salpêtrière Hospital, Paris, France., Peixoto de Barcelos I; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Macedo-Souza LI; Centro de Estudos do Genoma Humano, Universidade de São Paulo, Sao Paulo, SP, Brazil., Takeuchi CA; Sabará Hospital Infantil, São Paulo, SP, Brazil., Garcia AMS; Hospital Regional Dom Moura, Garanhuns, PE, Brazil., Nardes F; Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Fontão R; Neuropediatrics, Penna Hospital, Bahía Blanca, Buenos Aires, Argentina., Antoniuk SA; Universidade Federal do Paraná, Curitiba, PR, Brazil., Troncoso M; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile., Spécola N; Hospital de Niños Sor María Ludovica, La Plata, Argentina., Durand C; Laboratorio de Neuroquímica Dr. N.A. Chamoles, Buenos Aires, Argentina., Madeiro BACS; Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brazil., Doriqui MJR; Public Health Department, Universidade Federal do Maranhão, São Luís, MA, Brazil., Vergara D; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile., Houlden H; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kok F; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2023 May; Vol. 94 (5), pp. 405-408. Date of Electronic Publication: 2023 Feb 03.
Publication Type: Letter
Journal Info: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
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  Data: <searchLink fieldCode="AU" term="%22Paiva+ARB%22">Paiva ARB</searchLink>; Mendelics Genomic Analysis, São Paulo, SP, Brazil arbrandaopaiva@gmail.com.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Hospital São Rafael - Rede D'or São Luiz, Salvador, BA, Brazil.<br /><searchLink fieldCode="AU" term="%22Pessoa+ALS%22">Pessoa ALS</searchLink>; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil.; Universidade Estadual do Ceara, Fortaleza, CE, Brazil.<br /><searchLink fieldCode="AU" term="%22Nóbrega+PR%22">Nóbrega PR</searchLink>; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Universidade Federal do Ceará, Fortaleza, CE, Brazil.<br /><searchLink fieldCode="AU" term="%22Moreno+CAM%22">Moreno CAM</searchLink>; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Lynch+DS%22">Lynch DS</searchLink>; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Taniguti+LM%22">Taniguti LM</searchLink>; Mendelics Genomic Analysis, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Kitajima+JP%22">Kitajima JP</searchLink>; Mendelics Genomic Analysis, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Freua+F%22">Freua F</searchLink>; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Beneficência Portuguesa de São Paulo, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Della-Ripa+B%22">Della-Ripa B</searchLink>; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Cunha+P%22">Cunha P</searchLink>; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Institut du Cerveau (ICM), APHP, Pitié Salpêtrière Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Peixoto+de+Barcelos+I%22">Peixoto de Barcelos I</searchLink>; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Macedo-Souza+LI%22">Macedo-Souza LI</searchLink>; Centro de Estudos do Genoma Humano, Universidade de São Paulo, Sao Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Takeuchi+CA%22">Takeuchi CA</searchLink>; Sabará Hospital Infantil, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Garcia+AMS%22">Garcia AMS</searchLink>; Hospital Regional Dom Moura, Garanhuns, PE, Brazil.<br /><searchLink fieldCode="AU" term="%22Nardes+F%22">Nardes F</searchLink>; Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.<br /><searchLink fieldCode="AU" term="%22Fontão+R%22">Fontão R</searchLink>; Neuropediatrics, Penna Hospital, Bahía Blanca, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Antoniuk+SA%22">Antoniuk SA</searchLink>; Universidade Federal do Paraná, Curitiba, PR, Brazil.<br /><searchLink fieldCode="AU" term="%22Troncoso+M%22">Troncoso M</searchLink>; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Spécola+N%22">Spécola N</searchLink>; Hospital de Niños Sor María Ludovica, La Plata, Argentina.<br /><searchLink fieldCode="AU" term="%22Durand+C%22">Durand C</searchLink>; Laboratorio de Neuroquímica Dr. N.A. Chamoles, Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Madeiro+BACS%22">Madeiro BACS</searchLink>; Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brazil.<br /><searchLink fieldCode="AU" term="%22Doriqui+MJR%22">Doriqui MJR</searchLink>; Public Health Department, Universidade Federal do Maranhão, São Luís, MA, Brazil.<br /><searchLink fieldCode="AU" term="%22Vergara+D%22">Vergara D</searchLink>; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
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  Data: <searchLink fieldCode="JN" term="%222985191R%22">Journal of neurology, neurosurgery, and psychiatry</searchLink> [J Neurol Neurosurg Psychiatry] 2023 May; Vol. 94 (5), pp. 405-408. <i>Date of Electronic Publication: </i>2023 Feb 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BMJ+Publishing+Group%22">BMJ Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985191R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-330X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200223050%22">00223050 </searchLink><i>NLM ISO Abbreviation: </i>J Neurol Neurosurg Psychiatry <i>Subsets: </i>MEDLINE
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