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Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.
Lorenzoni, Paulo José; Bayer, Dafne Luana; Ducci, Renata Dal-Prá; Fustes, Otto Jesus Hernandez; do Vale Pascoal Rodrigues, Paula Raquel; Werneck, Lineu Cesar; Kay, Cláudia Suemi Kamoi; Scola, Rosana Herminia.
Affiliation
  • Lorenzoni PJ; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br.
  • Bayer DL; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
  • Ducci RD; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
  • Fustes OJH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
  • do Vale Pascoal Rodrigues PR; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
  • Werneck LC; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
  • Kay CSK; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
  • Scola RH; Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
Neurol Sci ; 44(7): 2551-2554, 2023 Jul.
Article in En | MEDLINE | ID: mdl-36964315

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Motor Neuron Disease Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: Brazil

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Motor Neuron Disease Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: Brazil