Edmar Zanoteli

Edmar Zanoteli

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Edmar Zanoteli

Edmar Zanoteli

Publications by authors named "Edmar Zanoteli"

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81Publications

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Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Authors:
Pablo B Winckler André M S da Silva Antônio R Coimbra-Neto Elmano Carvalho Eduardo B U Cavalcanti Cláudia F R Sobreira Carlo D Marrone Marcela C Machado-Costa Alzira A S Carvalho Raimunda H F Feio Cleonísio L Rodrigues Marcus V M Gonçalves Renata B Tenório Rodrigo H Mendonça Ana Cotta Júlia F O Paim Cynthia Costa E Silva Camila de Aquino Cruz Marjory I Bená Daniel F A Betancur Antonette S El Husny Isabel C N de Souza Regina C B Duarte Umbertina C Reed Márcia L F Chaves Edmar Zanoteli Marcondes C França Jonas A Saute

Clin Genet 2019 Oct 15;96(4):341-353. Epub 2019 Jul 15.

Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.

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http://dx.doi.org/10.1111/cge.13597DOI Listing
October 2019

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Authors:
Jacob A Ross Yotam Levy Michela Ripolone Justin S Kolb Mark Turmaine Mark Holt Johan Lindqvist Kristl G Claeys Joachim Weis Mauro Monforte Giorgio Tasca Maurizio Moggio Nicolas Figeac Peter S Zammit Heinz Jungbluth Chiara Fiorillo John Vissing Nanna Witting Henk Granzier Edmar Zanoteli Edna C Hardeman Carina Wallgren-Pettersson Julien Ochala

Acta Neuropathol 2019 Sep 19;138(3):477-495. Epub 2019 Jun 19.

Centre for Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, Guy's Campus, King's College London, London, SE1 1UL, UK.

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http://dx.doi.org/10.1007/s00401-019-02034-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689292PMC
September 2019

Severe brain involvement in 5q spinal muscular atrophy type 0.

Authors:
Rodrigo H Mendonça Antônio J Rocha Andres Lozano-Arango Astry B Diaz Claudia Castiglioni André M S Silva Umbertina C Reed Leslie Kulikowski Ida Paramonov Ivon Cuscó Eduardo F Tizzano Edmar Zanoteli

Ann Neurol 2019 Sep 24;86(3):458-462. Epub 2019 Jul 24.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25549DOI Listing
September 2019

Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".

Authors:
Rodrigo H Mendonça Antônio J Rocha Andres Lozano-Arango Astry B Diaz Claudia Castiglioni André M S Silva Umbertina C Reed Leslie Kulikowski Ida Paramonov Ivon Cuscó Eduardo F Tizzano Edmar Zanoteli

Ann Neurol 2019 Sep 9. Epub 2019 Sep 9.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25597DOI Listing
September 2019

Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis.

Authors:
André M S Silva Hemerli C Almeida Maria A A Vianna Florencia Comello Edmar Zanoteli

Clin Infect Dis 2019 Jul;69(2):373-375

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo.

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http://dx.doi.org/10.1093/cid/ciy755DOI Listing
July 2019

Clinical and molecular findings in a cohort of ANO5-related myopathy.

Authors:
André M S Silva Antônio R Coimbra-Neto Paulo Victor S Souza Pablo B Winckler Marcus V M Gonçalves Eduardo B U Cavalcanti Alzira A D S Carvalho Cláudia F D R Sobreira Clara G Camelo Rodrigo D H Mendonça Eduardo D P Estephan Umbertina C Reed Marcela C Machado-Costa Mario E T Dourado-Junior Vanessa C Pereira Marcelo M Cruzeiro Paulo V P Helito Laís U Aivazoglou Leonardo V D Camargo Hudson H Gomes Amaro J S D Camargo Wladimir B V D R Pinto Bruno M L Badia Luiz H Libardi Mario T Yanagiura Acary S B Oliveira Anamarli Nucci Jonas A M Saute Marcondes C França-Junior Edmar Zanoteli

Ann Clin Transl Neurol 2019 Jul 11;6(7):1225-1238. Epub 2019 Jun 11.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1002/acn3.50801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649425PMC
July 2019

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Authors:
Pedro M Rodríguez Cruz Judith Cossins Eduardo de Paula Estephan Francina Munell Kathryn Selby Michio Hirano Reza Maroofin Mohammad Yahya Vahidi Mehrjardi Gabriel Chow Aisling Carr Adnan Manzur Stephanie Robb Pinki Munot Wei Wei Liu Siddharth Banka Harry Fraser Christian De Goede Edmar Zanoteli Umbertina Conti Reed Abigail Sage Margarida Gratacos Alfons Macaya Marina Dusl Jan Senderek Ana Töpf Monika Hofer Ravi Knight Sithara Ramdas Sandeep Jayawant Hans Lochmüller Jacqueline Palace David Beeson

Brain 2019 06;142(6):1547-1560

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1093/brain/awz107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752227PMC
June 2019

A new mutation in PYGM causing McArdle disease in a Brazilian patient.

Authors:
Caio Perez Gomes André Macedo Serafim da Silva Edmar Zanoteli João Bosco Pesquero

Acta Neurol Belg 2019 Jun 7. Epub 2019 Jun 7.

Department of Biophysics, Center for Research and Molecular Diagnosis of Genetic Diseases, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s13760-019-01159-7DOI Listing
June 2019

Skeletal Muscle Response to Deflazacort, Dexamethasone and Methylprednisolone.

Authors:
Alan Fappi Juliana de Carvalho Neves Leandro Nunes Sanches Pedro Victor Massaroto E Silva Guilherme Yuiti Sikusawa Thayane Pereira Correa Brandão Gerson Chadi Edmar Zanoteli

Cells 2019 05 1;8(5). Epub 2019 May 1.

Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, São Paulo, SP 01246-904, Brazil.

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http://dx.doi.org/10.3390/cells8050406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562646PMC
May 2019

Molecular and histomorphological evaluation of female rats' urethral tissues after an innovative trauma model of prolonged vaginal distention: immediate, short-term and long-term effects.

Authors:
Maria A T Bortolini Suellen M Feitosa Andreisa P M Bilhar Gisela G R Salerno Edmar Zanoteli Manuel J Simões Rodrigo A Castro

Int Urogynecol J 2019 Mar 21;30(3):465-476. Epub 2018 Mar 21.

Sector of Urogynecology and Vaginal Surgery, Department of Gynecology, Federal University of São Paulo, Rua Barão do Triunfo, 427 cj 1206, São Paulo, SP, 04602-001, Brazil.

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http://dx.doi.org/10.1007/s00192-018-3634-2DOI Listing
March 2019

Diagnostic Imaging of Inflammatory Myopathies: New Concepts and a Radiological Approach.

Authors:
Júlio Brandão Guimarães Marcelo A Nico Alípio G Omond Laís Uyeda Aivazoglou Rafael Baches Jorge Edmar Zanoteli Artur R C Fernandes

Curr Rheumatol Rep 2019 Feb 14;21(3). Epub 2019 Feb 14.

Department of Radiology, Escola Paulista de Medicina, Federal University of Sao Paulo (UNIFESP), São Paulo, Brazil.

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http://link.springer.com/10.1007/s11926-019-0807-z
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http://dx.doi.org/10.1007/s11926-019-0807-zDOI Listing
February 2019

Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy.

Authors:
André Macedo Serafim da Silva Wagner Cid Palmeira Cavalcante Clara Gontijo Camelo Rodrigo de Holanda Mendonça Ida Fortini Mary Souza de Carvalho Edmar Zanoteli

Arq Neuropsiquiatr 2019 Feb;77(2):139

Universidade de São Paulo, Faculdade de Medicina (FMUSP), Departamento de Neurologia, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20190008DOI Listing
February 2019

Omega-3 multiple effects increasing glucocorticoid-induced muscle atrophy: autophagic, AMPK and UPS mechanisms.

Authors:
Alan Fappi Juliana de C Neves Karine A Kawasaki Luana Bacelar Leandro N Sanches Felipe P da Silva Rubens Larina-Neto Gerson Chadi Edmar Zanoteli

Physiol Rep 2019 01;7(1):e13966

Department of Neurology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.14814/phy2.13966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333722PMC
January 2019

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Authors:
Mickael Tordjman Ivana Dabaj Pascal Laforet Adrien Felter Ana Ferreiro Moustafa Biyoukar Bruno Law-Ye Edmar Zanoteli Claudia Castiglioni John Rendu Christophe Beroud Alexandre Chamouni Pascale Richard Dominique Mompoint Susana Quijano-Roy Robert-Yves Carlier

Eur Radiol 2018 Dec 25;28(12):5293-5303. Epub 2018 May 25.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.

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http://dx.doi.org/10.1007/s00330-018-5472-5DOI Listing
December 2018

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Authors:
Irina T Zaharieva Anna Sarkozy Pinki Munot Adnan Manzur Gina O'Grady John Rendu Eduardo Malfatti Helge Amthor Laurent Servais J Andoni Urtizberea Osorio Abath Neto Edmar Zanoteli Sandra Donkervoort Juliet Taylor Joanne Dixon Gemma Poke A Reghan Foley Chris Holmes Glyn Williams Muriel Holder Sabrina Yum Livija Medne Susana Quijano-Roy Norma B Romero Julien Fauré Lucy Feng Laila Bastaki Mark R Davis Rahul Phadke Caroline A Sewry Carsten G Bönnemann Heinz Jungbluth Christoph Bachmann Susan Treves Francesco Muntoni

Hum Mutat 2018 12 11;39(12):1980-1994. Epub 2018 Oct 11.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/humu.23635
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http://dx.doi.org/10.1002/humu.23635DOI Listing
December 2018

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Authors:
Marisol Sampedro Castañeda Edmar Zanoteli Renata S Scalco Vinicius Scaramuzzi Vitor Marques Caldas Umbertina Conti Reed Andre Macedo Serafim da Silva Benjamin O'Callaghan Rahul Phadke Enrico Bugiardini Richa Sud Samuel McCall Michael G Hanna Hanne Poulsen Roope Männikkö Emma Matthews

Brain 2018 12;141(12):3308-3318

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219PMC
December 2018

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Authors:
Eduardo de Paula Estephan Antonio Alberto Zambon Paulo Eurípedes Marchiori André Macedo Serafim da Silva Vitor Marques Caldas Cristiane Araújo Martins Moreno Umbertina Conti Reed Rita Horvath Ana Töpf Hanns Lochmüller Edmar Zanoteli

Neuromuscul Disord 2018 11 5;28(11):961-964. Epub 2018 Sep 5.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.08.007DOI Listing
November 2018

Clinical, Histological, and Immunohistochemical Findings in Inclusion Body Myositis.

Authors:
Leonardo Valente de Camargo Mary Souza de Carvalho Samuel Katsuyuki Shinjo Acary Souza Bulle de Oliveira Edmar Zanoteli

Biomed Res Int 2018 29;2018:5069042. Epub 2018 Jan 29.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1155/2018/5069042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893008PMC
October 2018

Clinical Variability in 2 Siblings With Late-Onset Pompe Disease.

Authors:
Carolina da Cunha Correia Pedro Nogueira Fontana Gustavo Henrique Belarmino de Góes Edmar Zanoteli

J Clin Neuromuscul Dis 2018 09;20(1):47-48

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1097/CND.0000000000000216DOI Listing
September 2018

Molecular and immunohistochemical analysis of the urethra of female rats after induced trauma and intravenous therapy with muscle derived stem cells.

Authors:
Andreisa P M Bilhar Maria A T Bortolini Alexandre B Sé Suellen M Feitosa Gisela R F Salerno Edmar Zanoteli Manuel J Simões Rodrigo A Castro

Neurourol Urodyn 2018 09 28;37(7):2151-2159. Epub 2018 Aug 28.

Department of Gynecology, Federal University of São Paulo, São Paulo, Brazil.

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http://doi.wiley.com/10.1002/nau.23567
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http://dx.doi.org/10.1002/nau.23567DOI Listing
September 2018

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Authors:
Ivana Dabaj Robert Y Carlier David Gómez-Andrés Osório Abath Neto Enrico Bertini Adele D'amico Fabiana Fattori Yann PéRéon Claudia Castiglioni Eliana Rodillo Michela Catteruccia Júlio Brandão Guimarães Acary Souza Bulle Oliveira Umbertina Conti Reed Lilia Mesrob Doris Lechner Anne Boland Jean-François Deleuze Edoardo Malfatti Carsten Bonnemann Jocelyn Laporte Norma Romero Adrien Felter Susana Quijano-Roy Cristiane Araújo Martins Moreno Edmar Zanoteli

Muscle Nerve 2018 Aug 14;58(2):224-234. Epub 2018 May 14.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://doi.wiley.com/10.1002/mus.26137
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http://dx.doi.org/10.1002/mus.26137DOI Listing
August 2018

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure.

Authors:
André M S Silva Rodrigo H Mendonça Diogo C Soares Dagoberto Callegaro Vitor M Caldas Iago N Perissinotti Mary S Carvalho Edmar Zanoteli

Neurology 2018 07;91(4):187-190

From Departamento de Neurologia (A.M.S.S., R.H.M., D.C., V.M.C., I.N.P., M.S.C., E.Z.) and Unidade de Genética Clínica (D.C.S.), Faculdade de Medicina da Universidade de São Paulo (FMUSP), Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000005867DOI Listing
July 2018

Histological changes underlying bupivacaine's effect on extra ocular muscle.

Authors:
Luisa Moreira Hopker Juliana de Carvalho Neves Daiane Jaqueline Nascimento Eliene Dutra Campos Tomas Scalamandre Mendonça Edmar Zanoteli Norma Allemann

Exp Eye Res 2018 06 9;171:62-67. Epub 2018 Mar 9.

Federal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil; University of Illinois at Chicago (UIC), Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.exer.2018.03.004DOI Listing
June 2018

Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report.

Authors:
Alzira Alves de Siqueira Carvalho Vinicius Gomes da Silva Edmar Zanoteli David Feder

Ther Clin Risk Manag 2018 14;14:903-907. Epub 2018 May 14.

Department of Pharmacology, School of Medicine of ABC, Santo André, São Paulo, Brazil.

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http://dx.doi.org/10.2147/TCRM.S162931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5957055PMC
May 2018

Therapeutic advances in 5q-linked spinal muscular atrophy.

Authors:
Umbertina Conti Reed Edmar Zanoteli

Arq Neuropsiquiatr 2018 Apr;76(4):265-272

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

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http://dx.doi.org/10.1590/0004-282x20180011DOI Listing
April 2018

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Authors:
Eduardo de Paula Estephan Cláudia Ferreira da Rosa Sobreira André Clériston José Dos Santos Pedro José Tomaselli Wilson Marques Roberta Paiva Magalhães Ortega Marcela Câmara Machado Costa André Macedo Serafim da Silva Rodrigo Holanda Mendonça Vitor Marques Caldas Antonio Alberto Zambon Osório Abath Neto Paulo Eurípedes Marchiori Carlos Otto Heise Umbertina Conti Reed Yoshiteru Azuma Ana Töpf Hanns Lochmüller Edmar Zanoteli

J Neurol 2018 Mar 30;265(3):708-713. Epub 2018 Jan 30.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.

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http://dx.doi.org/10.1007/s00415-018-8736-8DOI Listing
March 2018

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Authors:
Valérie Biancalana Sophie Scheidecker Marguerite Miguet Annie Laquerrière Norma B Romero Tanya Stojkovic Osorio Abath Neto Sandra Mercier Nicol Voermans Laura Tanner Curtis Rogers Elisabeth Ollagnon-Roman Helen Roper Célia Boutte Shay Ben-Shachar Xavière Lornage Nasim Vasli Elise Schaefer Pascal Laforet Jean Pouget Alexandre Moerman Laurent Pasquier Pascale Marcorelle Armelle Magot Benno Küsters Nathalie Streichenberger Christine Tranchant Nicolas Dondaine Raphael Schneider Claire Gasnier Nadège Calmels Valérie Kremer Karine Nguyen Julie Perrier Erik Jan Kamsteeg Pierre Carlier Robert-Yves Carlier Julie Thompson Anne Boland Jean-François Deleuze Michel Fardeau Edmar Zanoteli Bruno Eymard Jocelyn Laporte

Acta Neuropathol 2017 Dec 6;134(6):889-904. Epub 2017 Jul 6.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-017-1748-0DOI Listing
December 2017

Sporadic Inclusion Body Myositis: MRI Findings and Correlation With Clinical and Functional Parameters.

Authors:
Julio Brandao Guimaraes Edmar Zanoteli Thomas M Link Leonardo V de Camargo Luca Facchetti Lorenzo Nardo Artur da Rocha Correa Fernandes

AJR Am J Roentgenol 2017 Dec 27;209(6):1340-1347. Epub 2017 Sep 27.

1 Department of Radiology, Federal University of Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.2214/AJR.17.17849DOI Listing
December 2017

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Authors:
Osorio Abath Neto Cristiane de Araújo Martins Moreno Edoardo Malfatti Sandra Donkervoort Johann Böhm Júlio Brandão Guimarães A Reghan Foley Payam Mohassel Jahannaz Dastgir Diana Xerxes Bharucha-Goebel Soledad Monges Fabiana Lubieniecki James Collins Līvija Medne Mariarita Santi Sabrina Yum Brenda Banwell Emmanuelle Salort-Campana John Rendu Julien Fauré Uluc Yis Bruno Eymard Chrystel Cheraud Raphaël Schneider Julie Thompson Xaviere Lornage Lilia Mesrob Doris Lechner Anne Boland Jean-François Deleuze Umbertina Conti Reed Acary Souza Bulle Oliveira Valérie Biancalana Norma B Romero Carsten G Bönnemann Jocelyn Laporte Edmar Zanoteli

Neuromuscul Disord 2017 Nov 30;27(11):975-985. Epub 2017 May 30.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.016DOI Listing
November 2017

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.

Authors:
Cristiane de Araújo Martins Moreno Osório Abath Neto Sandra Donkervoort Ying Hu Umbertina Conti Reed Acary Sousa Bulle Oliveira Carsten Bönnemann Edmar Zanoteli

Pediatr Neurol 2017 Oct 7;75:11-16. Epub 2017 Apr 7.

Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.002DOI Listing
October 2017

Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy.

Authors:
André M S Silva Rodrigo H Mendonça Cristiane A M Moreno Eduardo P Estephan Paulo V P Helito Mary S Carvalho Edmar Zanoteli

Neuromuscul Disord 2017 Aug 12;27(8):756-759. Epub 2017 May 12.

Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.008DOI Listing
August 2017

Translation and validation of the Life Satisfaction Index for Adolescents scale with neuromuscular disorders: LSI-A Brazil.

Authors:
Valdecir Antonio Simon Edmar Zanoteli Margarete Andreozzi Vaz Pereira Simon Maria Bernadete Dutra de Resende Umbertina Conti Reed

Arq Neuropsiquiatr 2017 Aug;75(8):553-562

Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil.

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/0004-282X20170103DOI Listing
August 2017

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.

Authors:
Alexandra P Q C Araujo Alzira A S de Carvalho Eduardo B U Cavalcanti Jonas Alex M Saute Elmano Carvalho Marcondes C França Alberto R M Martinez Monica de M M Navarro Anamarli Nucci Maria Bernadete D de Resende Marcus Vinicius M Gonçalves Juliana Gurgel-Giannetti Rosana H Scola Cláudia F da R Sobreira Umbertina C Reed Edmar Zanoteli

Arq Neuropsiquiatr 2017 08;75(8):104-113

Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil.

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/0004-282x20170112DOI Listing
August 2017

Matching pairs difficulty in children with spinal muscular atrophy type I.

Authors:
Graziela Jorge Polido Alessandra Ferreira Barbosa Carlos Hitoshi Morimoto Fátima Aparecida Caromano Francis Meire Favero Edmar Zanoteli Umbertina Conti Reed Mariana Callil Voos

Neuromuscul Disord 2017 May 15;27(5):419-427. Epub 2017 Feb 15.

Department of Physical Therapy, Speech Therapy and Occupational Therapy, Faculty of Medicine, University of São Paulo, São Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.01.017DOI Listing
May 2017

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Authors:
Manuela Wiessner Andreas Roos Christopher J Munn Ranjith Viswanathan Tamieka Whyte Dan Cox Benedikt Schoser Caroline Sewry Helen Roper Rahul Phadke Chiara Marini Bettolo Rita Barresi Richard Charlton Carsten G Bönnemann Osório Abath Neto Umbertina C Reed Edmar Zanoteli Cristiane Araújo Martins Moreno Birgit Ertl-Wagner Rolf Stucka Christian De Goede Tamiris Borges da Silva Denisa Hathazi Margherita Dell'Aica René P Zahedi Simone Thiele Juliane Müller Helen Kingston Susanna Müller Elizabeth Curtis Maggie C Walter Tim M Strom Volker Straub Kate Bushby Francesco Muntoni Laura E Swan Hanns Lochmüller Jan Senderek

Am J Hum Genet 2017 Mar 9;100(3):523-536. Epub 2017 Feb 9.

Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339217PMC
March 2017

Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis.

Authors:
Ronnyson Susano Grativvol André Macedo Serafim da Silva Bruno Fukelmann Guedes Eduardo de Paula Estephan Rodrigo de Holanda Mendonça Antônio Alberto Zambon Carlos Otto Heise Edmar Zanoteli

Arq Neuropsiquiatr 2017 Mar;75(3):197-198

Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo, Brasil.

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http://dx.doi.org/10.1590/0004-282X20160192DOI Listing
March 2017

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.

Authors:
Osorio Abath Neto Carlos Otto Heise Cristiane de Araújo Martins Moreno Eduardo de Paula Estephan Lilia Mesrob Doris Lechner Anne Boland Jean-François Deleuze Acary Souza Bulle Oliveira Umbertina Conti Reed Valérie Biancalana Jocelyn Laporte Edmar Zanoteli

Can J Neurol Sci 2017 Jan 17;44(1):125-127. Epub 2016 Oct 17.

6Departamento de NeurologiaFaculdade de Medicina,Universidade de São PauloAvenida Dr. Enéas de Carvalho Aguiar 2555 andar,sala 5131,Cerqueira Cesar05403-900,Sao Paulo,Brazil.

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http://dx.doi.org/10.1017/cjn.2016.322DOI Listing
January 2017

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.

Authors:
Eduardo de Paula Estephan Cristiane Araújo Martins Moreno André Macedo Serafim da Silva Rodrigo de Holanda Mendonça Osório Abath Neto Patrícia Yoshi Nishimura Layla Testa Galindo Edmar Zanoteli

Arq Neuropsiquiatr 2017 01;75(1):72-73

Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20160171DOI Listing
January 2017

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Authors:
Qiang Gang Conceição Bettencourt Pedro M Machado Stefen Brady Janice L Holton Alan M Pittman Deborah Hughes Estelle Healy Matthew Parton David Hilton-Jones Perry B Shieh Merrilee Needham Christina Liang Edmar Zanoteli Leonardo Valente de Camargo Boel De Paepe Jan De Bleecker Aziz Shaibani Michela Ripolone Raffaella Violano Maurizio Moggio Richard J Barohn Mazen M Dimachkie Marina Mora Renato Mantegazza Simona Zanotti Andrew B Singleton Michael G Hanna Henry Houlden

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

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.

Authors:
Agessandro Abrahao Osório Abath Neto Fernando Kok Edmar Zanoteli Bibiana Santos Wladimir Bocca Vieira de Rezende Pinto Orlando Graziani Povoas Barsottini Acary Souza Bulle Oliveira José Luiz Pedroso

J Neurol Sci 2016 Sep 21;368:352-8. Epub 2016 Jul 21.

Division of General Neurology and Ataxias, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.07.048DOI Listing
September 2016

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.

Authors:
Osorio Abath Neto Marina Rodrigues E Silva Cristiane de Araújo Martins Acary de Souza Bulle Oliveira Umbertina Conti Reed Valérie Biancalana João Bosco Pesquero Jocelyn Laporte Edmar Zanoteli

Pediatr Neurol 2016 05 6;58:107-12. Epub 2016 Feb 6.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.01.023DOI Listing
May 2016

Limb-girdle muscular dystrophy type 2A in Brazilian children.

Authors:
Marco Antônio Veloso de Albuquerque Osório Abath Neto Francisco Marcos Alencar da Silva Edmar Zanoteli Umbertina Conti Reed

Arq Neuropsiquiatr 2015 Dec;73(12):993-7

Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/0004-282X20150168DOI Listing
December 2015

Neuraminidase-1 mediates skeletal muscle regeneration.

Authors:
Juliana de Carvalho Neves Vanessa Rodrigues Rizzato Alan Fappi Mariana Miranda Garcia Gerson Chadi Diantha van de Vlekkert Alessandra d'Azzo Edmar Zanoteli

Biochim Biophys Acta 2015 Sep 19;1852(9):1755-64. Epub 2015 May 19.

Department of Neurology, University of São Paulo, São Paulo, SP 01246-903, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617636PMC
September 2015

Integrative data mining highlights candidate genes for monogenic myopathies.

Authors:
Osorio Abath Neto Olivier Tassy Valérie Biancalana Edmar Zanoteli Olivier Pourquié Jocelyn Laporte

PLoS One 2014 29;9(10):e110888. Epub 2014 Oct 29.

Dept. of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, Strasbourg, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213015PMC
June 2015

Rhabdomyolysis: a genetic perspective.

Authors:
Renata Siciliani Scalco Alice R Gardiner Robert Ds Pitceathly Edmar Zanoteli Jefferson Becker Janice L Holton Henry Houlden Heinz Jungbluth Ros Quinlivan

Orphanet J Rare Dis 2015 May 2;10:51. Epub 2015 May 2.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://www.ojrd.com/content/10/1/51
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http://dx.doi.org/10.1186/s13023-015-0264-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522153PMC
May 2015

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.

Authors:
Osorio Abath Neto Cristiane de Araújo Martins Mary Carvalho Gerson Chadi Katia Werneck Seitz Acary Souza Bulle Oliveira Umbertina Conti Reed Jocelyn Laporte Edmar Zanoteli

Genet Mol Biol 2015 May 1;38(2):147-51. Epub 2015 May 1.

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/S1415-4757382220140238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530644PMC
May 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Authors:
Qiang Gang Conceicao Bettencourt Pedro M Machado Zoe Fox Stefen Brady Estelle Healy Matt Parton Janice L Holton David Hilton-Jones Perry B Shieh Edmar Zanoteli Boel De Paepe Jan De Bleecker Aziz Shaibani Michela Ripolone Raffaella Violano Maurizio Moggio Richard J Barohn Mazen M Dimachkie Marina Mora Renato Mantegazza Simona Zanotti Michael G Hanna Henry Houlden

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 2015

The effects of omega-3 fatty acid supplementation on dexamethasone-induced muscle atrophy.

Authors:
Alan Fappi Tiago S Godoy Jessica R Maximino Vanessa R Rizzato Juliana de C Neves Gerson Chadi Edmar Zanoteli

Biomed Res Int 2014 25;2014:961438. Epub 2014 May 25.

Department of Neurology, University of São Paulo, No. 455, Dr. Arnaldo Avenue, 01246-903 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1155/2014/961438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055633PMC
February 2015

Clinical aspects of patients with sarcoglycanopathies under steroids therapy.

Authors:
Marco A V Albuquerque Osório Abath-Neto Jéssica R Maximino Gerson Chadi Edmar Zanoteli Umbertina C Reed

Arq Neuropsiquiatr 2014 Oct;72(10):768-72

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/0004-282x20140126DOI Listing
October 2014

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy.

Authors:
Tanyse Bahia Carvalho Marques Juliana de Carvalho Neves Leslie Andrews Portes João Marcos Salge Edmar Zanoteli Umbertina Conti Reed

J Bras Pneumol 2014 Oct;40(5):528-34

Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263334PMC
http://dx.doi.org/10.1590/s1806-37132014000500009DOI Listing
October 2014

Statin-associated necrotizing autoimmune myopathy.

Authors:
Geórgea Hermogenes Fernandes Edmar Zanoteli Samuel Katsuyuki Shinjo

Mod Rheumatol 2014 Sep 11;24(5):862-4. Epub 2014 Feb 11.

Division of Rheumatology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo , São Paulo , Brazil.

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http://link.springer.com/content/pdf/10.1007%2Fs10165-013-08
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http://www.tandfonline.com/doi/full/10.3109/14397595.2013.87
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http://dx.doi.org/10.3109/14397595.2013.874739DOI Listing
September 2014

Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.

Authors:
Marco A V Albuquerque Lívia M Pasqualin Cristiane A Martins Umbertina C Reed Edmar Zanoteli

Pediatr Neurol 2014 May 24;50(5):e11-2. Epub 2014 Jan 24.

Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994140006
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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.036DOI Listing
May 2014

Early gene expression changes in skeletal muscle from SOD1(G93A) amyotrophic lateral sclerosis animal model.

Authors:
Gabriela P de Oliveira Jessica R Maximino Mariana Maschietto Edmar Zanoteli Renato D Puga Leandro Lima Dirce M Carraro Gerson Chadi

Cell Mol Neurobiol 2014 Apr 18;34(3):451-62. Epub 2014 Jan 18.

Neuroregeneration Center, Department of Neurology, University of São Paulo School of Medicine, Av. Dr. Arnaldo, 455, 2nd Floor, Room 2119, São Paulo, 01246-903, Brazil.

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http://dx.doi.org/10.1007/s10571-014-0029-xDOI Listing
April 2014

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

Authors:
Lívia M A Pasqualin Umbertina C Reed Thais V M M Costa Elisângela Quedas Marco A V Albuquerque Maria B D Resende Anne Rutkowski Gerson Chadi Edmar Zanoteli

Pediatr Neurol 2014 Apr 21;50(4):400-6. Epub 2013 Nov 21.

Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.010DOI Listing
April 2014

Predicting the loss of ambulation in Duchenne muscular dystrophy.

Authors:
Edmar Zanoteli

Arq Neuropsiquiatr 2014 Jan;72(1):1-2

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http://dx.doi.org/10.1590/0004-282X20130243DOI Listing
January 2014

Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.

Authors:
Luciana Rodrigues Jacy da Silva Mileny Esbravatti Stephano Colovati Bruno Coprerski Carlos Eugênio Fernandez de Andrade Edmar Zanoteli Salmo Raskin Mariana Moysés Oliveira Maria Isabel Melaragno Ana Beatriz Alvarez Perez

Neuromuscul Disord 2013 May 1;23(5):388-90. Epub 2013 Mar 1.

Medical Genetics Center, Department of Morphology and Genetics, Federal University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.nmd.2013.01.009DOI Listing
May 2013

Duchenne muscular dystrophy and Duane's syndrome: a rare association.

Authors:
Lívia M A Pasqualin Edmar Zanoteli Marco A M Veloso Silvana K Frizzo Maria B D Resende Julio Z Abucham-Neto Mariza Polati Gerson Chadi Umbertina C Reed

Arq Neuropsiquiatr 2013 Feb;71(2):127-8

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http://dx.doi.org/10.1590/s0004-282x2013000200014DOI Listing
February 2013

Lung function monitoring in patients with duchenne muscular dystrophy on steroid therapy.

Authors:
Darlene L Machado Elaine C Silva Maria B D Resende Celso R F Carvalho Edmar Zanoteli Umbertina C Reed

BMC Res Notes 2012 Aug 13;5:435. Epub 2012 Aug 13.

Department of Neurology, Medical School of the University of São Paulo, Av, Dr, Enéas de Carvalho Aguiar 255, room 5131, Cerqueira Cesar, São Paulo, 05403900, Brazil.

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http://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0
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http://dx.doi.org/10.1186/1756-0500-5-435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514262PMC
August 2012

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Authors:
Juliana Gurgel-Giannetti Edmar Zanoteli Eralda Luiza de Castro Concentino Osorio Abath Neto João Bosco Pesquero Umbertina Conti Reed Mariz Vainzof

Neuromuscul Disord 2012 Jun 20;22(6):541-5. Epub 2012 Jan 20.

Department of Pediatrics, Medical School of Federal University of Minas Gerais, Brazil.

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http://dx.doi.org/10.1016/j.nmd.2011.12.005DOI Listing
June 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Authors:
Johann Böhm Valérie Biancalana Elizabeth T Dechene Marc Bitoun Christopher R Pierson Elise Schaefer Hatice Karasoy Melissa A Dempsey Fabrice Klein Nicolas Dondaine Christine Kretz Nicolas Haumesser Claire Poirson Anne Toussaint Rebecca S Greenleaf Melissa A Barger Lane J Mahoney Peter B Kang Edmar Zanoteli John Vissing Nanna Witting Andoni Echaniz-Laguna Carina Wallgren-Pettersson James Dowling Luciano Merlini Anders Oldfors Lilian Bomme Ousager Judith Melki Amanda Krause Christina Jern Acary S B Oliveira Florence Petit Aurélia Jacquette Annabelle Chaussenot David Mowat Bruno Leheup Michele Cristofano Juan José Poza Aldea Fabrice Michel Alain Furby Jose E Barcena Llona Rudy Van Coster Enrico Bertini Jon Andoni Urtizberea Valérie Drouin-Garraud Christophe Béroud Bernard Prudhon Melanie Bedford Katherine Mathews Lori A H Erby Stephen A Smith Jennifer Roggenbuck Carol A Crowe Allison Brennan Spitale Sheila C Johal Anthony A Amato Laurie A Demmer Jessica Jonas Basil T Darras Thomas D Bird Mercy Laurino Selman I Welt Cynthia Trotter Pascale Guicheney Soma Das Jean-Louis Mandel Alan H Beggs Jocelyn Laporte

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy.

Authors:
Elaine C da Silva Darlene L Machado Maria B D Resende Renata F Silva Edmar Zanoteli Umbertina C Reed

Arq Neuropsiquiatr 2012 Mar;70(3):191-5

Department of Neurology, Medical School, University of São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2012000300007DOI Listing
March 2012

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid.

Authors:
Illora A Darbar Paulo G Plaggert Maria Bernadete D Resende Edmar Zanoteli Umbertina C Reed

BMC Neurol 2011 Mar 24;11:36. Epub 2011 Mar 24.

Department of Neurology, Medical School of the University of São Paulo, São Paulo, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078847PMC
March 2011

Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents.

Authors:
Valdecir A Simon Maria Bernardete Dutra Resende Margarete A V P Simon Edmar Zanoteli Umbertina Conti Reed

Arq Neuropsiquiatr 2011 Feb;69(1):19-22

Department of Neurology, School of Medicine, University of São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2011000100005DOI Listing
February 2011

Spinal muscular atrophy: from animal model to clinical trial.

Authors:
Edmar Zanoteli Jessica Ruivo Maximino Umbertina Conti Reed Gerson Chadi

Funct Neurol 2010 Apr-Jun;25(2):73-9

Department of Neurology, Medical School of the University of São Paulo, Brazil.

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December 2010

Comparison of motor strength and function in patients with Duchenne muscular dystrophy with or without steroid therapy.

Authors:
Samara Lamounier Santana Parreira Maria Bernadete Dutra Resende Edmar Zanoteli Mary Souza Carvalho Suely Kazue Marie Umbertina Conti Reed

Arq Neuropsiquiatr 2010 Oct;68(5):683-8

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2010000500002DOI Listing
October 2010

Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.

Authors:
Edmar Zanoteli Diantha van de Vlekkert Erik J Bonten Huimin Hu Linda Mann Elida M Gomero A John Harris Giulio Ghersi Alessandra d'Azzo

Biochim Biophys Acta 2010 Jul-Aug;1802(7-8):659-72. Epub 2010 Apr 11.

Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.

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http://dx.doi.org/10.1016/j.bbadis.2010.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2906380PMC
August 2010

Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development.

Authors:
Yvan Campos Xiaohui Qiu Edmar Zanoteli Simon Moshiach Naja Vergani Antonella Bongiovanni A John Harris Alessandra d'Azzo

PLoS One 2010 Mar 24;5(3):e9866. Epub 2010 Mar 24.

Department of Genetics and Tumor Cell Biology, St Jude Children's Research Hospital, Memphis, Tennessee, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844429PMC
March 2010

Mitochondrial alterations in dynamin 2-related centronuclear myopathy.

Authors:
Edmar Zanoteli Naja Vergani Yvan Campos Mariz Vainzof Acary S B Oliveira Alessandra d'Azzo

Arq Neuropsiquiatr 2009 Mar;67(1):102-4

Department of Neurology, UNIFESP-EPM, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2009000100023DOI Listing
March 2009

Histological analysis of palatopharyngeal muscle from children with snoring and obstructive sleep apnea syndrome.

Authors:
Isabela Mattos De Vuono Edmar Zanoteli Acary Souza Bulle de Oliveira Reginaldo Raimundo Fujita Shirley Shizue Nagata Pignatari Gilberto Ulson Pizarro Márcia Lurdes de Cássia Pradelle-Hallinan Gustavo Antônio Moreira

Int J Pediatr Otorhinolaryngol 2007 Feb 28;71(2):283-90. Epub 2006 Nov 28.

Department of Otorhinolaryngology and Head and Neck Surgery, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876060043
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http://dx.doi.org/10.1016/j.ijporl.2006.10.019DOI Listing
February 2007

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Authors:
Valérie Tosch Holger M Rohde Hélène Tronchère Edmar Zanoteli Nancy Monroy Christine Kretz Nicolas Dondaine Bernard Payrastre Jean-Louis Mandel Jocelyn Laporte

Hum Mol Genet 2006 Nov 28;15(21):3098-106. Epub 2006 Sep 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/ddl250DOI Listing
November 2006

[Analysis of the expression of collagen VI in congenital muscular dystrophy].

Authors:
Regina Toni Loureiro de Freitas Edmar Zanoteli Maria da Penha Ananias Morita Acary Souza Bulle Oliveira

Arq Neuropsiquiatr 2005 Jun 25;63(2B):514-8. Epub 2005 Jul 25.

Disciplina de Neurologia da Universidade Federal de São Paulo, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2005000300027DOI Listing
June 2005

[Motor function evaluation in merosin-deficient congenital muscular dystrophy children].

Authors:
Fernanda M Rocco Fernanda H Gianini Luz Alexsander Junquera Rossato Antônio Carlos Fernandes Acary S B Oliveira Javier Toledano Betetas Edmar Zanoteli

Arq Neuropsiquiatr 2005 Jun;63(2A):298-306

Clínica de Doenças Neuromusculares da Associação de Assistência a Criança Deficiente (AACD), São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/s0004-282x2005000200018DOI Listing
June 2005

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Authors:
Edmar Zanoteli Jocelyn Laporte José C C Rocha Christine Kretz Acary S B Oliveira Jean-Louis Mandel Ana B A Perez Alberto A Gabbai Anna Buj-Bello

Am J Med Genet A 2005 Apr;134(3):338-40

Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30574DOI Listing
April 2005

Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.

Authors:
Lydia U Yamamoto Thomas R Gollop Nadyr F Naccache Rita C M Pavanello Edmar Zanoteli Mayana Zatz Mariz Vainzof

Diagn Mol Pathol 2004 Sep;13(3):167-71

Department of Biology, Human Genome Research Center, São Paulo, Brazil.

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September 2004

[Normal pattern of intraepidermal nerve fibers in 30 healthy volunteers with PGP 9.5].

Authors:
Luciana Moura Acary Souza Bulle Oliveira Edmar Zanoteli Ricardo Cardoso Beny Schmidt Alberto Alain Gabbai

Arq Neuropsiquiatr 2004 Jun 23;62(2A):271-5. Epub 2004 Jun 23.

Setor de Investigação em Doenças Neuromusculares, Escola Paulista de Medicina, Universidade Federal de São PauloSão Paulo, SP, Brasil.

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http://dx.doi.org/10.1590/s0004-282x2004000200015DOI Listing
June 2004

[Progressive muscular atrophy: clinical and laboratory study in eleven patients].

Authors:
Maria Elisabeth Matta de Rezende Ferraz Edmar Zanoteli Acary Souza Bulle Oliveira Alberto Alain Gabbai

Arq Neuropsiquiatr 2004 Mar 28;62(1):119-26. Epub 2004 Apr 28.

Setor de Doenças Neuromusculares, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.

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http://dx.doi.org/10.1590/s0004-282x2004000100021DOI Listing
March 2004

[Surgical treatment of scoliosis in spinal muscular atrophy].

Authors:
Vanderson Roso Simone de Oliveira Bittencourt Bitu Edmar Zanoteli Javier Toledano Beteta Rogério Carvalho de Castro Antônio Carlos Fernandes

Arq Neuropsiquiatr 2003 Sep 16;61(3A):631-8. Epub 2003 Sep 16.

Clínicas de Escoliose e de Doenças Neuromusculares, Associação de Assistência Criança Deficiente, São Paulo, SP, Brasil.

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http://dx.doi.org/10.1590/s0004-282x2003000400020DOI Listing
September 2003

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.

Authors:
Juliana Gurgel-Giannetti Umbertina C Reed Sueli K Marie Edmar Zanoteli Moacir A T Fireman Acary S B Oliveira Lineu C Werneck Alan H Beggs Mayana Zatz Mariz Vainzof

J Child Neurol 2003 Mar;18(3):235-40

Centro de Estudos do Genoma Humano, Department of Biology, IB, School of Medicine, University of São Paulo, SP-CEP, Brazil.

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http://dx.doi.org/10.1177/08830738030180031501DOI Listing
March 2003

Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance.

Authors:
Edmar Zanoteli Renato M Lotuffo Acary S B Oliveira Alan H Beggs Marta Canovas Mayana Zatz Mariz Vainzof

J Mol Neurosci 2003 Feb;20(1):39-42

Department of Neurology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

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http://link.springer.com/10.1385/JMN:20:1:39
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http://dx.doi.org/10.1385/JMN:20:1:39DOI Listing
February 2003

Telethonin protein expression in neuromuscular disorders.

Authors:
Mariz Vainzof Eloisa S Moreira Oscar T Suzuki Georgine Faulkner Georgio Valle Alan H Beggs Olli Carpen Alberto F Ribeiro Edmar Zanoteli Juliana Gurgel-Gianneti Ana Maria Tsanaclis Helga C A Silva Maria Rita Passos-Bueno Mayana Zatz

Biochim Biophys Acta 2002 Oct;1588(1):33-40

Center for the Study of the Human Genome, Department Biology, IBUSP, University of Sao Paulo, R. do Matão, 277, sala 220-Cidade Universitária, São Paulo, Brazil.

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http://dx.doi.org/10.1016/s0925-4439(02)00113-8DOI Listing
October 2002

Temporomandibular joint and masticatory muscle involvement in myotonic dystrophy: a study by magnetic resonance imaging.

Authors:
Edmar Zanoteli Helio K Yamashita Hideo Suzuki Acary S B Oliveira Alberto A Gabbai

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002 Aug;94(2):262-71

Department of Neurology, Universidade Federal de São Paulo-Escola Paulista de Medicina, Brazil.

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http://dx.doi.org/10.1067/moe.2002.124580DOI Listing
August 2002