To investigate the molecular defect underlying a large Italian kindred with progressive adult-onset respiratory failure, proximal weakness of the upper limbs, and evidence of lower motor neuron degeneration.
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation / A. Di Fonzo, D. Ronchi, F. Gallia, F.M. Cribiù, I. Trezzi, A. Vetro, E. Della Mina, I. Limongelli, R. Bellazzi, I. Ricca, G. Micieli, E. Fassone, M. Rizzuti, A. Bordoni, F. Fortunato, S. Salani, G. Mora, S. Corti, M. Ceroni, S. Bosari, O. Zuffardi, N. Bresolin, E. Nobile-Orazio, G.P. Comi. - In: NEUROLOGY. - ISSN 0028-3878. - 82:22(2014 Jun 03), pp. 1990-1998. [10.1212/WNL.0000000000000476]
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
D. RonchiSecondo
;F. Gallia;I. Trezzi;E. Fassone;A. Bordoni;F. Fortunato;S. Salani;S. Corti;S. Bosari;N. Bresolin;E. Nobile-OrazioPenultimo
;G.P. ComiUltimo
2014
Abstract
To investigate the molecular defect underlying a large Italian kindred with progressive adult-onset respiratory failure, proximal weakness of the upper limbs, and evidence of lower motor neuron degeneration.
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