Now showing items 1-7 of 7

    • Caracterização clínica, epidemiológica, neurorradiológica e genética de pacientes com síndrome Fosmn 

      Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2018-07-26)
      Objectives: Perform clinical characterization of motor and nonmotor aspects of FOSMN (facialonset sensory and motor neuronopathy) syndrome in Brazilian patients. Secondary objectives included: (i) evaluation of the genetic ...

    • The frequency of the C9orf72 expansion in a Brazilian population 

      Cintra, Vivian Pedigone; Bonadia, Luciana Cardoso; Andrade, Helen Maia T.; Albuquerque, Milena de; Eusebio, Mayara Ferreira; Oliveira, Daniel Sabino de; Claudino, Rinaldo; Goncalves, Marcus Vinicius Magno; Teixeira Junior, Antonio Lucio; Prado, Laura de Godoy Rousseff; Souza, Leonardo Cruz de; Dourado Junior, Mario Emilio Teixeira; Oliveira, Acary Souza Bulle [UNIFESP]; Tumas, Vitor; Franca Junior, Marcondes C.; Marques Junior, Wilson (Elsevier Science Inc, 2018)
      G(4)C(2) hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). In this study, we investigated the presence ...

    • Histórico da atividade física habitual dos pacientes com esclerose lateral amiotrófica 

      Pereira, Roberto Dias Batista [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2016-03-30)
      Objective: To identify the historical profile of habitual physical activity in people with Motor Neurone Disease / Amyotrophic Lateral Sclerosis (MND/ALS) and compared to healthy subjects. Methods: 202 subjects were selected, ...

    • Marcadores clínicos fonoaudiológicos como modelo prognóstico nas funções orofaringolaringeais em pacientes com doença do neurônio motor 

      Oda, Adriana Leico [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2016-12-16)
      Purpose: To identify clinical markers of bulbar alterations during progressive dysfunction of the oropharyngolaryngeal musculature in patients with Amyotrophic Lateral Sclerosis (ALS) and to compare the patients with ...

    • Modulação autonômica cardíaca e sua relação com a capacidade pulmonar em indivíduos com paralisia bulbar progressiva e esclerose lateral amiotrófica 

      Pimentel, Renata Martins [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2018-08-29)
      Introduction: Motor neuron diseases (MND), characterized by amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy (PBP), is defined by progressive, irreversible and incapacitating motor paralysis with survival ...

    • Motor neuron disease in inherited neurometabolic disorders 

      Souza, Paulo Victor Sgobbi de [UNIFESP]; Bortholin, T. [UNIFESP]; Naylor, F. George Monteiro [UNIFESP]; Chieia, Marco Antonio Troccoli [UNIFESP]; Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP] (Masson Editeur, 2018)
      Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system ...

    • One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia 

      Abrahao, Agessandro [UNIFESP]; Neto, Osorio Abath; Kok, Fernando; Zanoteli, Edmar; Santos, Bibiana; Vieira de Rezende Pinto, Wladimir Bocca [UNIFESP]; Povoas Barsottini, Orlando Graziani [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]; Pedroso, Jose Luiz [UNIFESP] (Elsevier Science Bv, 2016)
      Background: VCP (valosin-containing protein gene) variants have been associated with peripheral and central neurodegenerative processes, including inclusion body myopathy (IBM), Paget disease of bone (PDB), frontotemporal ...