Mendonca, Rodrigo de Holanda; Matsui Jr, Ciro; Polido, Graziela Jorge; Serafim Silva, Andre Macedo; Kulikowski, Leslie; Dias, Alexandre Torchio; Zanardo, Evelin Aline; Fontoura Solla, Davi Jorge; Gurgel-Giannetti, Juliana; Monteiro Lessa de Moura, Ana Carolina; Campolina Sampaio, Gabriela Palhares; Bulle Oliveira, Acary Souza; Sgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Goncalves, Eduardo Augusto; Farias, Igor Braga; Nardes, Flavia; de Queiroz Campos Araujo, Alexandra Prufer; Marques Jr, Wilson; Tomaselli, Pedro Jose; Ospedale Ribeiro, Mara Dell; Kitajima, Joao Paulo; Monteiro, Fabiola Paoli; Morales Saute, Jonas Alex; Becker, Michele Michelin; Saraiva-Pereira, Maria Luiza; Brusius-Facchin, Ana Carolina; van der Linden, Vanessa; Florencio, Rodrigo Neves; Soares Barbosa, Andre Vinicius; Machado-Costa, Marcela Camara; Santos Pessoa, Andre Luiz; Souza, Leticia Silva; Franca Jr, Marcondes Cavalcante; Kok, Fernando; Reed, Umbertina Conti; Zanoteli, Edmar

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

ANNALS OF NEUROLOGY

IF7.7

2019-10-030

PREAI

Severe brain involvement in 5q spinal muscular atrophy type 0

ANNALS OF NEUROLOGY

IF7.7

2019-07-2439

PREAI

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

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2019-06-1128

OAAI

Silva, Andre M. S.; Coimbra-Neto, Antonio R.; Souza, Paulo Victor S.; Winckler, Pablo B.; Goncalves, Marcus V. M.; Cavalcanti, Eduardo B. U.; Carvalho, Alzira A. D. S.; Sobreire, Claudia F. D. R.; Camelo, Clara G.; Mendonca, Rodrigo D. H.; Estephan, Eduardo D. P.; Reed, Umbertina C.; Machado-Costa, Marcela C.; Dourado-Junior, Mario E. T.; Pereira, Vanessa C.; Cruzeiro, Marcelo M.; Helito, Paulo V. P.; Aivazoglou, Lais U.; Camargo, Leonardo V. D.; Gomes, Hudson H.; Camargo, Amaro J. S. D.; Pinto, Wladimir B. V. D. R.; Badia, Bruno M. L.; Libardi, Luiz H.; Yanagiura, Mario T.; Oliveira, Acary S. B.; Nucci, Anamarli; Saute, Jonas A. M.; Franca-Junior, Marcondes C.; Zanoteli, Edmar

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

BRAIN

IF11.7

2019-05-1332

OAAI

Cruz, Pedro M. Rodriguez; 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; De Goede, Christian; Zanoteli, Edmar; Reed, Umbertina Conti; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Topf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmueller, Hans; Palace, Jacqueline; Beeson, David

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

BRAIN

IF11.7

2018-11-1222

OAAI

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2017-03-0154

OAAI

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

The influence of visual and tactile perception on hand control in children with Duchenne muscular dystrophy

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2014-04-2613