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Items: 3

1.

Long-term progression in type II spinal muscular atrophy: A retrospective observational study.

Mercuri E, Lucibello S, Pera MC, Carnicella S, Coratti G, de Sanctis R, Messina S, Mazzone E, Forcina N, Fanelli L, Norcia G, Antonaci L, Frongia AL, Pane M.

Neurology. 2019 Sep 24;93(13):e1241-e1247. doi: 10.1212/WNL.0000000000008166. Epub 2019 Aug 26.

PMID:
31451515
2.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.

Frongia AL, Natera-de Benito D, Ortez C, Alarcón M, Borrás A, Medina J, Vigo M, Padrós N, Moya O, Armas J, Carrera-García L, Expósito-Escudero J, Cuadras D, Bernal S, Martorell L, Colomer J, Nascimento A.

Neuromuscul Disord. 2019 Jul;29(7):517-524. doi: 10.1016/j.nmd.2019.04.003. Epub 2019 Apr 18.

PMID:
31201046
3.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T.

Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6.

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