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JAMA Neurology, ISSN 2168-6149, 03/2014, Volume 71, Issue 3, p. 350
  Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. However, treatment of individual syndromes has... 
Medical treatment | Fatigue | Mutation | Kinases | Drug dosages
Journal Article
Muscle & Nerve, ISSN 0148-639X, 03/2016, Volume 53, Issue 3, p. 388
Congenital myopathy due to mutations in the [alpha]-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who... 
Phenotype | Genetic disorders | Gene mutations | Actin | Genes | Genetic research | Genetic aspects | Muscle proteins | Prevalence studies (Epidemiology) | Mutation
Journal Article
JAMA Neurology, ISSN 2168-6149, 03/2014, Volume 71, Issue 3, pp. 350 - 354
Journal Article
by Howard, James F and Utsugisawa, Kimiaki and Benatar, Michael and Murai, Hiroyuki and Barohn, Richard J and Illa, Isabel and Jacob, Saiju and Vissing, John and Burns, Ted M and Kissel, John T and Muppidi, Srikanth and Nowak, Richard J and O'Brien, Fanny and Wang, Jing-Jing and Mantegazza, Renato and Mazia, Claudio Gabriel and Wilken, Miguel and Ortea, Carolina and Saba, Juliet and Rugiero, Marcelo and Bettini, Mariela and Vidal, Gonzalo and Vidal, Nuria and Garcia, Rebekah and Garcia, Sonia and Garcia, Alejandra Dalila and Lamont, Phillipa and Leong, Wai-Kuen and Boterhoven, Heidi and Fyfe, Beverly and Roberts, Leslie and Jasinarachchi, Mahi and Willlems, Natasha and Wanschitz, Julia and Löscher, Wolfgang and De Bleecker, Jan and Van den Abeele, Guy and de Koning, Kathy and De Mey, Katrien and Mercelis, Rudy and Wagemaekers, Linda and Mahieu, Delphine and Van Damme, Philip and Smetcoren, Charlotte and Stevens, Olivier and Verjans, Sarah and D'Hondt, Ann and Tilkin, Petra and Alves de Siqueira Carvalho, Alzira and Hasan, Rosa and Dias Brockhausen, Igor and Feder, David and Ambrosio, Daniel and Melo, Ana Paula and Rocha, Rosana and Rosa, Bruno and Veiga, Thabata and Augusto da Silva, Luiz and Gonçalves Geraldo, Jordana and da Penha Morita Ananias, Maria and Nogueira Coelho, Erica and Paiva, Gabriel and Pozo, Marina and Prando, Natalia and Dada Martineli Torres, Debora and Fernanda Butinhao, Cristiani and Coelho, Erica and Renata Cubas Volpe, Luciana and Duran, Gustavo and Gomes da Silva, Tamires Cristina and Otavio Maia Gonçalves, Luiz and Pazetto, Lucas Eduardo and Souza Duca, Luciana and Suriane Fialho, Tomás Augusto and Gheller Friedrich, Maurício André and Guerreiro, Alexandre and Mohr, Henrique and Pereira Martins, Maurer and da Cruz Pacheco, Daiane and Macagnan, Ana Paula and de Cassia Santos, Aline and Bulle Oliveira, Acary Souza and Amaral de Andrade, Ana Carolina and Annes, Marcelo and Cavalcante Lino, Valeria and Pinto, Wladimir and Miranda, Carolina and Carrara, Fernanda and Souza, Iandra and Genge, Angela and Massie, Rami and Campbell, Natasha and Bril, Vera and Katzberg, Hans and Soltani, Mehran and Ng, Eduardo and Siddiqi, Zaeem and Phan, Celile and Blackmore, Derrick and Vohanka, Stanislav and ... and REGAIN Study Grp and REGAIN Study Group
The Lancet Neurology, ISSN 1474-4422, 12/2017, Volume 16, Issue 12, pp. 976 - 986
Journal Article
JOURNAL OF NEUROLOGY, ISSN 0340-5354, 06/2019, Volume 266, Issue 6, pp. 1367 - 1375
Journal Article
Journal Article
Journal Article
Journal of Rehabilitation Medicine, ISSN 1650-1977, 04/2017, Volume 49, Issue 4, p. 362
Objective: The 2- and 6-minute walk tests are used to evaluate walking capacity, but reliability has been sparsely investigated in patients with neuromuscular... 
Measurement | Walking | Muscular diseases | Variability | Reliability
Journal Article
Muscle & Nerve, ISSN 0148-639X, 03/2016, Volume 53, Issue 3, pp. 388 - 393
Journal Article