Edmar Zanoteli

Edmar Zanoteli

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Edmar Zanoteli

Publications by authors named "Edmar Zanoteli"

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

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".

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.

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

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

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

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.

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.

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.

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

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

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

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

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.

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.

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

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

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.

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

Therapeutic advances in 5q-linked spinal muscular atrophy.

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

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

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

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

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.

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

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

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

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

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

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

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.

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.

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

Neuraminidase-1 mediates skeletal muscle regeneration.

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.

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://journals.plos.org/plosone/article?id=10.1371/journal.pone.0110888PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213015PMC
June 2015

Rhabdomyolysis: a genetic perspective.

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

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

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.

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.

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

Statin-associated necrotizing autoimmune myopathy.

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
Publisher Site
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.

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.

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.

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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https://linkinghub.elsevier.com/retrieve/pii/S08878994130067
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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.

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

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

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.

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.

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.

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

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

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.

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.

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

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

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://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009866PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844429PMC
March 2010

Mitochondrial alterations in dynamin 2-related centronuclear myopathy.

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

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

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].

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].

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.

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.

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].

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].

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].

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.

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.

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.

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.

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