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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 21, 2020 - Issue 3-4
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Genomics & Pathology

Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the VAPB gene in Southern Brazil

Matheus Luis Castelan TrilicoService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil, and Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0003-4417-1277
ORCID Icon,
Paulo José LorenzoniService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil
,
Cláudia Suemi Kamoi KayService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil
,
Renata Dal Pra DucciService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil
,
Otto Jesus Hernandez FustesService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil
,
Lineu Cesar WerneckService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil
&
Rosana Herminia ScolaService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, Brazil
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Pages 286-290 | Received 18 Nov 2019, Accepted 23 Feb 2020, Published online: 12 Mar 2020

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Cristian Correa-Arrieta, Fernando Ortiz-Corredor, Sandra Castellar-Leones & Diana Sánchez-Peñarete. (2023) Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24:7-8, pages 763-765.
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Roberto Teodoro Gurgel De Oliveira, Glauciane Costa Santana, Maria De Jesus Gonçalves, Guilherme Augusto De Freitas Fregonezi, Sancha Helena De Lima Vale, Lucia Leite-Lais & Mário Emílio Teixeira Dourado$suffix/text()$suffix/text(). (2023) A geographical study on amyotrophic lateral sclerosis in Rio Grande Do Norte, Brazil, from 2005 to 2018. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24:1-2, pages 117-124.
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Articles from other publishers (4)

Nathália Augusta Gomes, Francisco das Chagas Lima e Silva, Caroline Maria de Oliveira Volpe, Pedro Henrique Villar-Delfino, Camila Ferreira de Sousa, Fabiana Rocha-Silva & José Augusto Nogueira-Machado. (2023) Overexpression of mTOR in Leukocytes from ALS8 Patients. Current Neuropharmacology 21:3, pages 482-490.
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Suzan Kors, Joseph L. Costello & Michael Schrader. (2022) VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease. Frontiers in Cell and Developmental Biology 10.
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Luiz Eduardo NOVIS, Mariana SPITZ & Hélio A. G. TEIVE. (2021) The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation. Arquivos de Neuro-Psiquiatria 79:8, pages 743-747.
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João Pedro Nunes Gonçalves, Tauana Bernardes Leoni, Melina Pazian Martins, Thiago Mazzo Peluzzo, Mario Emílio T. DouradoJr.Jr., Jonas Alex M. Saute, Anna Paula Paranhos Miranda Covaleski, Acary Souza Bulle de Oliveira, Rinaldo Claudino, Wilson MarquesJr.Jr., Anamarli Nucci & Marcondes C. FrançaJr.Jr.. (2021) Genetic epidemiology of familial ALS in Brazil. Neurobiology of Aging 102, pages 227.e1-227.e4.
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