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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Published in:
2018
By:
- Castañeda, Marisol Sampedro;
- Zanoteli, Edmar;
- Scalco, Renata S;
- Scaramuzzi, Vinicius;
- Caldas, Vitor Marques;
- Reed, Umbertina Conti;
- Silva, Andre Macedo Serafim da;
- O'Callaghan, Benjamin;
- Phadke, Rahul;
- Bugiardini, Enrico;
- Sampedro Castañeda, Marisol;
- Marques Caldas, Vitor;
- Conti Reed, Umbertina;
- da Silva, Andre Macedo Serafim;
- Sud, Richa;
- McCall, Samuel;
- Hanna, Michael G;
- Poulsen, Hanne;
- Männikkö, Roope;
- Matthews, Emma
Publication type:
journal article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Published in:
2019
By:
- Cruz, Pedro M. Rodríguez;
- Cossins, Judith;
- Estephan, Eduardo de Paula;
- Munell, Francina;
- Selby, Kathryn;
- Hirano, Michio;
- Maroofin, Reza;
- Mehrjardi, Mohammad Yahya Vahidi;
- Chow, Gabriel;
- Carr, Aisling;
- Manzur, Adnan;
- Robb, Stephanie;
- Munot, Pinki;
- Liu, Wei Wei;
- Banka, Siddharth;
- Fraser, Harry;
- Goede, Christian De;
- Zanoteli, Edmar;
- Reed, Umbertina Conti;
- Sage, Abigail
Publication type:
journal article
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Published in:
2018
By:
- Dabaj, Ivana;
- Carlier, Robert Y.;
- Gómez‐Andrés, David;
- Neto, Osório Abath;
- Bertini, Enrico;
- D'amico, Adele;
- Fattori, Fabiana;
- PéRéon, Yann;
- Castiglioni, Claudia;
- Rodillo, Eliana;
- Catteruccia, Michela;
- Guimarães, júlio Brandão;
- Oliveira, Acary Souza Bulle;
- Reed, Umbertina Conti;
- Mesrob, Lilia;
- Lechner, Doris;
- Boland, Anne;
- Deleuze, Jean‐François;
- Malfatti, Edoardo;
- Bonnemann, Carsten
Publication type:
journal article
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 483, doi. 10.3233/JND-221638
By:
- Camelo, Clara Gontijo;
- Artilheiro, Mariana Cunha;
- Martins Moreno, Cristiane Araújo;
- Ferraciolli, Suely Fazio;
- Serafim Silva, André Macedo;
- Fernandes, Tatiana Ribeiro;
- Lucato, Leandro Tavares;
- Rocha, Antônio José;
- Reed, Umbertina Conti;
- Zanoteli, Edmar
Publication type:
Article
A common <italic>CHRNE</italic> mutation in Brazilian patients with congenital myasthenic syndrome.
Published in:
Journal of Neurology, 2018, v. 265, n. 3, p. 708, doi. 10.1007/s00415-018-8736-8
By:
- Estephan, Eduardo de Paula;
- Sobreira, Cláudia Ferreira da Rosa;
- dos Santos, André Clériston José;
- Tomaselli, Pedro José;
- Marques, Wilson;
- Ortega, Roberta Paiva Magalhães;
- Costa, Marcela Câmara Machado;
- da Silva, André Macedo Serafim;
- Mendonça, Rodrigo Holanda;
- Caldas, Vitor Marques;
- Zambon, Antonio Alberto;
- Abath Neto, Osório;
- Marchiori, Paulo Eurípedes;
- Heise, Carlos Otto;
- Reed, Umbertina Conti;
- Azuma, Yoshiteru;
- Töpf, Ana;
- Lochmüller, Hanns;
- Zanoteli, Edmar
Publication type:
Article
Efeitos do treinamento de empilhamento de ar na função pulmonar de pacientes com amiotrofia espinhal e distrofia muscular congênita.
Published in:
Brazilian Journal of Pulmonology / Jornal Brasileiro de Pneumologia, 2014, v. 40, n. 5, p. 528, doi. 10.1590/S1806-37132014000500009
By:
- Carvalho Marques, Tanyse Bahia;
- de Carvalho Neves, Juliana;
- Andrews Portes, Leslie;
- Marcos Salge, João;
- Zanoteli, Edmar;
- Conti Reed, Umbertina
Publication type:
Article
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Published in:
2017
By:
- 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 Bulle;
- Reed, Umbertina Conti;
- Biancalana, Valérie;
- Laporte, Jocelyn;
- Zanoteli, Edmar
Publication type:
Case Study
Spinal muscular atrophy: from animal model to clinical trial.
Published in:
Functional Neurology, 2010, v. 25, n. 2, p. 73
By:
- Zanoteli, Edmar;
- Maximino, Jessica Ruivo;
- Reed, Umbertina Conti;
- Chadi, Gerson
Publication type:
Article

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