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1

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

Neto, Osorio Abath, de Araújo Martins Moreno, Cristiane, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

2

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

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 576 KB

english, 2012

3

G.P.33

Abath Neto, O., Martins, C.A., Reed, U.C., Biancalana, V., Bönnemann, C., Laporte, J., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

4

[ACM Press the 2006 international workshop - Shanghai, China (2006.05.23-2006.05.23)] Proceedings of the 2006 international workshop on Automation of software test - AST '06 - EasyAccept

Sauvé, Jacques Philippe, Abath Neto, Osório Lopes, Cirne, Walfredo

Year:

2006

Language:

english

File:

PDF, 215 KB

english, 2006

5

[ACM Press the 39th SIGCSE technical symposium - Portland, OR, USA (2008.03.12-2008.03.15)] Proceedings of the 39th SIGCSE technical symposium on Computer science education - SIGCSE '08 - Teaching software development with ATDD and easyaccept

Sauvé, Jacques Philippe, Abath Neto, Osório Lopes

Year:

2008

Language:

english

File:

PDF, 291 KB

english, 2008

6

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy

Malfatti, Edoardo, Monges, Soledad, Lehtokari, Vilma-Lotta, Schaeffer, Ursula, Abath Neto, Osorio, Kiiski, Kirsi, Lubieniecki, Fabiana, Taratuto, Ana Lía, Wallgren-Pettersson, Carina, Laporte, Jocelyn

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 4.02 MB

english, 2015

7

Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

Avila-Polo, R., Malfatti, E., Nelson, I., Nectoux, J., Böhm, J., Abath-Neto, O., Eymard, B., Monges, S., Lubieniecki, F., Brochier, G., Beuvin, M., Madelaine, A., Labasse, C., Taratuto, A., Udd, B., R

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

8

Novel histopathological phenotypes associated with TPM2 and TPM3-related congenital myopathies

Malfatti, E., Abath Neto, O., Fardeau, M., Laporte, J., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

9

A study of a cohort of X-linked myotubular myopathy at the clinical, histological and genetic level

Abath Neto, Osorio, Rodrigues e Silva, Marina, Martins, Cristiane de Araújo, Oliveira, Acary de Souza Bulle, Reed, Umbertina Conti, Biancalana, Valérie, Pesquero, João Bosco, Laporte, Jocelyn, Zanotel

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 416 KB

english, 2016

10

ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings

Malfatti, E., Monges, S., Lornage, X., Abath-Neto, O., Bohm, J., Joureau, B., De Winter, J., Rendu, J., Quijano-Roy, S., Brochier, G., Lubieniecki, F., Madelaine, A., Chanut, A., Estournet, B., Eymard

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

11

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, Abath Neto, Osório, Kok, Fernando, Zanoteli, Edmar, Santos, Bibiana, Pinto, Wladimir Bocca Vieira de Rezende, Barsottini, Orlando Graziani Povoas, Oliveira, Acary Souza Bulle, Ped

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 1.35 MB

english, 2016

12

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 7.33 MB

english, 2016

13

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

Abath Neto, Osorio, Heise, Carlos Otto, Moreno, Cristiane de Araújo Martins, Estephan, Eduardo de Paula, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Oliveira, Acary Souza Bull

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2017

Language:

english

File:

PDF, 142 KB

english, 2017

14

Dihydropyridine receptor (DHPR,CACNA1S) congenital myopathy

Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osori

Journal:

Acta Neuropathologica

Year:

2017

Language:

english

File:

PDF, 8.48 MB

english, 2017

15

Clinical and histological findings in ACTA1 related nemaline myopathy: case series and review of literature

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

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 500 KB

english, 2017

16

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

Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curti

Journal:

Acta Neuropathologica

Year:

2017

Language:

english

File:

PDF, 2.49 MB

english, 2017

17

Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy

Silva, A., Estephan, E., Moreno, C., Mendonça, R., Nishimura, P., Galindo, L., Carvalho, M., Abath-Neto, O., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

18

Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI

Dabaj, I., Araújo Martins Moreno, C., Abath Neto, O., Bertini, E., Castiglioni, C., Brandão Guimarães, J., Conti Reed, U., Mesrob, L., Lechner, D., Fiorillo, C., Malfati, E., Boland, A., Deleuze, J.,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

19

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family

Sampaio-Silva, Juliana, Batissoco, Ana Carla, Jesus-Santos, Rafaela, Abath-Neto, Osório, Scarpelli, Luciano Cesar, Nishimura, Patricia Yoshie, Galindo, Layla Testa, Bento, Ricardo Ferreira, Oiticica,

Journal:

Annals of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1002 KB

english, 2017

20

Teaching software development with ATDD and easyaccept

Sauvé, Jacques Philippe, Abath Neto, Osório Lopes

Journal:

ACM SIGCSE Bulletin

Year:

2008

Language:

english

File:

PDF, 291 KB

english, 2008

21

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

Dabaj, Ivana, Carlier, Robert Y, Gómez-Andrés, David, Abath Neto, Osório, Bertini, Enrico, D'Amico, Adele, Fattori, Fabiana, Péréon, Yann, Castiglioni, Claudia, Rodillo, Eliana, Catteruccia, Michela,

Journal:

Year:

2018

Language:

english

File:

PDF, 3.55 MB

english, 2018

22

Clinical decision making in the era of immunotherapy for high grade-glioma: report of four cases

Ranjan, Surabhi, Quezado, Martha, Garren, Nancy, Boris, Lisa, Siegel, Christine, Lopes Abath Neto, Osorio, Theeler, Brett J., Park, Deric M., Nduom, Edjah, Zaghloul, Kareem A., Gilbert, Mark R., Wu, J

Journal:

Year:

2018

Language:

english

File:

PDF, 1.94 MB

english, 2018

23

Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

Neto, Osorio Abath, Tassy, Olivier, Biancalana, Valérie, Zanoteli, Edmar, Pourquié, Olivier, Laporte, Jocelyn, Esteban, Francisco J.

Journal:

Year:

2014

Language:

english

File:

PDF, 967 KB

english, 2014

24

Impact of stroke unit in a public hospital on length of hospitalization and rate of early mortality of ischemic stroke patients

Rocha, Maria Sheila G., Almeida, Ana Claudia F., Abath Neto, Osorio, Porto, Marianna P. R., Brucki, Sonia Maria D.

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2013

Language:

english

File:

PDF, 220 KB

english, 2013

25

Limb-girdle muscular dystrophy type 2A in Brazilian children

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

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2015

File:

PDF, 504 KB

2015

26

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

Zaharieva, Irina, Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, O'Grady, Gina, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Urtizberea, J. Andoni, Neto, Osorio Abath, Zanoteli, Edmar

Journal:

Year:

2018

Language:

english

File:

PDF, 2.14 MB

english, 2018

27

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Donkervoort, S., Mohassel, P., Voermans, N., Quinn, C., van de Locht, M., de Winter, J., Conijn, S., Helmes, M., Medne, L., Lopes Abath Neto, O., Moore, S., Ottenheijm, C., Foley, A.R., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

28

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco,

Journal:

The EMBO Journal

Year:

2018

Language:

english

File:

PDF, 1.85 MB

english, 2018

29

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

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

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2014

File:

PDF, 82 KB

2014

30

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Moreno, C., Estephan, E., Abath Neto, O., Camelo, C., Silva, A., Reed, U., Bönnemann, C., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

31

Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases.

Moreno, Cristiane de Araújo Martins, Estephan, Eduardo de Paula, Fappi, Alan, Monges, Soledad, Lubieniecki, Fabiana, Neto, Osório Lopes Abath, Reed, Umbertina Conti, Donkervoort, Sandra, Harms, Matthe

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.04 MB

english, 2019

32

Locomotor mal-performance and gait adaptability deficits in sickle cell mice are associated with vascular and white matter abnormalities and oxidative stress in cerebellum

Almeida, Luis E.F., Wang, Li, Kamimura, Sayuri, Zerfas, Patricia M., Smith, Meghann L., Abath Neto, Osorio L., Vale, Ticiana, Quezado, Martha M., Horkayne-Szakaly, Iren, Wakim, Paul, Quezado, Zenaide

Journal:

Year:

2020

File:

PDF, 651 KB

2020

33

High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma

Raffeld, Mark, Abdullaev, Zied, Pack, Svetlana D., Xi, Liqiang, Nagaraj, Sushma, Briceno, Nicole, Vera, Elizabeth, Pittaluga, Stefania, Lopes Abath Neto, Osorio, Quezado, Martha, Aldape, Kenneth, Arms

Journal:

Acta Neuropathologica Communications

Year:

2020

File:

PDF, 5.29 MB

2020

34

Appendiceal Metastasis from Thymic Carcinoma: An Unusual Presentation of a Rare Cancer

Swift, Shannon, Abath Neto, OsÃ³rio Lopes, Bagheri, Mohammad Hadi, Saleh, Alfred, Loehrer, Patrick J., Rajan, Arun

Journal:

JTO Clinical and Research Reports

Year:

2020

File:

PDF, 1.56 MB

2020

35

HHVâ6 and hippocampal volume in patients with mesial temporal sclerosis

Akinsoji, Elizabeth O., Leibovitch, Emily, Billioux, B. Jeanne, Abath Neto, Osorio Lopes, RayâChaudhury, Abhik, Inati, Sara K., Zaghloul, Kareem, Heiss, John, Jacobson, Steven, Theodore, William H.

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 109 KB

2020

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