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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva, Anderson Rodrigues Brandão de; Pessoa, André Luiz Santos; Nóbrega, Paulo Ribeiro; Moreno, Cristiane Araujo Martins; Lynch, David S; Taniguti, Lucas Mitsuo; Kitajima, João Paulo; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; Peixoto de Barcelos, Isabella; Macedo-Souza, Lúcia Inês; Takeuchi, Carlos Augusto; Garcia, Antônio Milton Silva; Nardes, Flávia; Fontão, Ramiro; Antoniuk, Sérgio Antônio; Troncoso, Monica; Spécola, Norma; Durand, Consuelo; Madeiro, Bianca de Aguiar Coelho Silva; Doriqui, Maria Juliana Rodovalho; Vergara, Diane; Houlden, Henry; Kok, Fernando.
Affiliation
  • Paiva ARB; Mendelics Genomic Analysis, São Paulo, SP, Brazil arbrandaopaiva@gmail.com.
  • Pessoa ALS; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Nóbrega PR; Neurology Department, Hospital São Rafael - Rede D'or São Luiz, Salvador, BA, Brazil.
  • Moreno CAM; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil.
  • Lynch DS; Universidade Estadual do Ceara, Fortaleza, CE, Brazil.
  • Taniguti LM; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Kitajima JP; Neurology Department, Universidade Federal do Ceará, Fortaleza, CE, Brazil.
  • Freua F; Mendelics Genomic Analysis, São Paulo, SP, Brazil.
  • Della-Ripa B; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Cunha P; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.
  • Peixoto de Barcelos I; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Macedo-Souza LI; Mendelics Genomic Analysis, São Paulo, SP, Brazil.
  • Takeuchi CA; Mendelics Genomic Analysis, São Paulo, SP, Brazil.
  • Garcia AMS; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Nardes F; Neurology Department, Beneficência Portuguesa de São Paulo, São Paulo, SP, Brazil.
  • Fontão R; Mendelics Genomic Analysis, São Paulo, SP, Brazil.
  • Antoniuk SA; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Troncoso M; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Spécola N; Institut du Cerveau (ICM), APHP, Pitié Salpêtrière Hospital, Paris, France.
  • Durand C; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
  • Madeiro BACS; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Doriqui MJR; Centro de Estudos do Genoma Humano, Universidade de São Paulo, Sao Paulo, SP, Brazil.
  • Vergara D; Sabará Hospital Infantil, São Paulo, SP, Brazil.
  • Houlden H; Hospital Regional Dom Moura, Garanhuns, PE, Brazil.
  • Kok F; Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
J Neurol Neurosurg Psychiatry ; 94(5): 405-408, 2023 05.
Article in En | MEDLINE | ID: mdl-36737246
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Neuronal Ceroid-Lipofuscinoses Type of study: Diagnostic_studies Limits: Humans Language: En Journal: J Neurol Neurosurg Psychiatry Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Neuronal Ceroid-Lipofuscinoses Type of study: Diagnostic_studies Limits: Humans Language: En Journal: J Neurol Neurosurg Psychiatry Year: 2023 Document type: Article Affiliation country: Country of publication: