Now showing items 1-20 of 24

    • Acidóse tubular renal distal manifestando-se com rabdomiólise 

      Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Tengan, Célia Harumi [UNIFESP]; Morita, Maria da Penha Ananias [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1994-12-01)
      Severe hypokalemia is an uncommon cause of rhabdomyolysis. We describe a patient, 28-year-old woman, with distal renal tubular acidosis (DRTA) who developed severe hypokalemia and rhabdomyolysis. Muscle biopsy shows focal ...
    • Análise da expressão do colágeno VI na distrofia muscular congênita 

      Freitas, Regina Toni Loureiro de [UNIFESP]; Zanoteli, Edmar [UNIFESP]; Morita, Maria Da Penha Ananias [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2005-06-01)
      Congenital muscular dystrophy (CMD) composes a group of disorders characterized by hypotonia and muscular weakness noticed in the first year of life. The Ullrich's form is characterized by proximal joint contractures and ...
    • Atrofia muscular progressiva: estudo clínico e laboratorial em onze pacientes 

      Ferraz, Maria Elisabeth Matta De Rezende [UNIFESP]; Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2004-03-01)
      Progressive muscular atrophy (PMA), an infrequent type of motor neuron disease (MND), is a predominantly lower motor neuron degeneration, causing muscle wasting and weakness with loss of weight and fasciculations. The ...
    • Atypical clinical and electroencephalographic pattern in a patient with subacute sclerosing panencephalitis 

      Silva, Délrio F. [UNIFESP]; Lima, Márcia Marques; Anghinah, Renato; Zanoteli, Edmar [UNIFESP]; Lima, José Geraldo Camargo [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1995-06-01)
      We describe an atypical clinical and electroencephalographic (EEG) pattern observed during the course of subacute sclerosing panencephalitis in a 14 year-old boy. In this patient with a two weeks history of partial complex ...
    • Atypical EEG pattern in children with absence seizures 

      Silva, Délrio F. [UNIFESP]; Lima, Márcia Marques; Anghinah, Renato; Zanoteli, Edmar [UNIFESP]; Lima, José Geraldo Camargo (Academia Brasileira de Neurologia - ABNEURO, 1995-06-01)
      We studied four children with diagnosis of absence seizures (generalized primary epilepsy), and with a generalized delta activity on the EEG during clinical attacks provoked by hyperventilation. The lack of ictal generalized ...
    • Atypical pattern related to 14 Hz positive spikes 

      Silva, Délrio F. [UNIFESP]; Lima, Márcia Marques; Kanda, Paulo M.; Anghinah, Renato; Zanoteli, Edmar [UNIFESP]; Lima, José Geraldo C. [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1995-06-01)
      We studied two children with a history of headache and a normal physical and neurological examination whose EEG showed an electroencephalographic pattern recently published, the N-shape potential associated with the 14 Hz ...
    • Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina 

      Rocco, Fernanda M.; Luz, Fernanda H. Gianini; Rossato, Alexsander Junquera; Fernandes, Antônio Carlos; Oliveira, Acary Souza Bulle [UNIFESP]; Beteta, Javier Toledano [UNIFESP]; Zanoteli, Edmar [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2005-06-01)
      Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), ...
    • Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset 

      Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1998-03-01)
      Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; ...
    • Centronuclear myopathy: subgroup characterized by tissue mosaicism - Authors's response 

      Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Assoc Arquivos De Neuro- Psiquiatria, 1999-06-01)
    • Complex partial status epilepticus in a child 

      Silva, Délrio F. [UNIFESP]; Zanoteli, Edmar [UNIFESP]; Lima, Márcia Marques; Anghinah, Renato; Lima, José Geraldo Camargo [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1995-06-01)
      Complex partial status epilepticus (SE) has been reported rarely in children. We describe the clinical case of a 14 year-old girl with complex partial seizures (CPS) since age 10 who developed a complex partial SE probably ...
    • Dipole reversal: an ictal feature in a patient with benign partial epilepsy of childhood with centrotemporal spike 

      Silva, Délrio F. [UNIFESP]; Lima, Márcia Marques; Anghinah, Renato; Zanoteli, Edmar [UNIFESP]; Lima, José Geraldo C. [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1995-06-01)
      We describe the case of a 15-year-old boy who had the diagnosis of benign partial epilepsy of childhood with centrotemporal spike. During the EEG a subclinical electrographic seizure was recorded. The discharges were clearly ...
    • Disfagia orofaríngea na distrofia miotônica: avaliação fonoaudiológica e análise nasofibrolaringoscópica 

      Chiappetta, Ana Lúcia de Magalhães Leal [UNIFESP]; Oda, Adriana Leico [UNIFESP]; Zanoteli, Edmar [UNIFESP]; Guilherme, Arnaldo [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2001-06-01)
      We herein present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The ...
    • The effect of telethonin deficiency in LGMD-2G and its expression in other forms of muscular dystrophies and congenital myopathies. 

      Vainzof, Mariz; Moreira, Eloisa de Sá; Passos-Bueno, Maria Rita; Faulkner, G.; Valle, G.; Zanoteli, Edmar [UNIFESP]; Gurgei-Gianneti, Juliana; Ribeiro, A. F.; Silva, Helga Cristina Almeida da [UNIFESP; Tsanaclis, Ana Maria Crous; Zatz, Mayana (Univ Chicago Press, 2000-10-01)
    • Epilepsy with continuous spike-waves during slow wave sleep: a clinical and electroencephalographic study 

      Silva, Délrio F. [UNIFESP]; Lima, Márcia Marques; Gonzalez, Luzinete V.a.t.; Lopez, Odyna J. Lr.; Anghinah, Renato; Zanoteli, Edmar [UNIFESP]; Lima, José Geraldo C. [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1995-06-01)
      We report four children with epilepsy with continuous spike-waves during slow wave sleep (CSWSS). The main clinical features were partial motor seizures, mental retardation and motor deficit. The EEG findings were characterized ...
    • Magnetic resonance imaging of masticatory muscles and temporomandibular joint in myotonic dystrophy patients (Steinert's disease) 

      Zanoteli, Edmar [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2001-12-01)
    • Miopatia centronuclear: estudo de dez pacientes 

      Zanoteli, Edmar [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 1996)
    • Mitochondrial alterations in dynamin 2-related centronuclear myopathy 

      Zanoteli, Edmar [UNIFESP]; Vergani, Naja; Campos, Yvan; Vainzof, Mariz; Oliveira, Acary Souza Bulle [UNIFESP]; D'azzo, Alessandra (Academia Brasileira de Neurologia - ABNEURO, 2009-03-01)
    • A novel PtdIns3P and PtdIns(3,5)P-2 phosphatase with an inactivating variant in centronuclear myopathy 

      Tosch, Valerie; Rohde, Holger M.; Tronchere, Helene; Zanoteli, Edmar [UNIFESP]; Monroy, Nancy; Kretz, Christine; Dondaine, Nicolas; Payrastre, Bernard; Mandel, Jean-Louis; Laporte, Jocelyn (Oxford Univ Press, 2006-11-01)
      In eukaryotic cells, phosphoinositides are lipid second messengers important for many cellular processes and have been found dysregulated in several human diseases. X-linked myotubular (centronuclear) myopathy is a severe ...
    • Padronização normal das fibras nervosas intraepidérmicas em 30 voluntários saudáveis com PGP 9,5 

      Moura, Luciana [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Zanoteli, Edmar [UNIFESP]; Cardoso, Ricardo; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2004-06-01)
      Skin biopsy has become an attractive technique to evaluate the terminal regions of small nerve fibers. There is extensive innervation of the skin by both sensory and autonomic fibers as demonstrated by staining for the ...
    • Ressonância magnética dos músculos da mastigação e da articulação temporomandibular na distrofia miotônica de Steinert 

      Zanoteli, Edmar [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2000)
      A distrofia miotonica de Steinert (DM) e uma doenca multissistemica com o gene responsavel localizado no cromossomo 19. O envolvimento muscular e caracterizado por miotonia e fraqueza que em geral iniciam na segunda ou ...